Project HERA

NF1 variants

Every NF1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

27 variants

NF1 variants

Newest first. Each row opens the full report, criterion by criterion.

27 shown
Variant
Protein change
Classification
NF1 NM_001042492.3:c.2573C>G
NP_001035957.1:p.(S858C)
VUS
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NF1 NM_001042492.3:c.2573C>G
NP_001035957.1:p.(S858C)
Likely Benign
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NF1 NM_001042492.3:c.6737del
NP_001035957.1:p.(P2246Qfs*19)
Likely Pathogenic
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NF1 NM_001042492.2:c.*4T>C
NP_001035957.1:p.?
Benign
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NF1 NM_001042492.2:c.4836-2A>G
NP_001035957.1:p.?
Pathogenic
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NF1 NM_001042492.2:c.2190C>G
NP_001035957.1:p.(N730K)
VUS
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NF1 NM_001042492.2:c.2544G>A
NP_001035957.1:p.(G848=)
Benign
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NF1 NM_001042492.2:c.2022C>T
NP_001035957.1:p.(S674=)
Benign
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NF1 NM_001042492.3:c.3496G>C
NP_001035957.1:p.(G1166R)
VUS
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NF1 NM_000267.3:c.3118A>T
NP_000258.1:p.(K1040*)
Likely Pathogenic
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NF1 NM_001042492.2:c.3479G>A
NP_001035957.1:p.(G1160D)
VUS
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NF1 NM_000267.3:c.2355A>G
NP_000258.1:p.(E785=)
VUS
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NF1 NM_001042492.2:c.6776T>C
NP_001035957.1:p.(V2259A)
VUS
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NF1 NM_000267.3:c.7039G>T
NP_000258.1:p.(E2347*)
Pathogenic
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NF1 NM_000267.3:c.6084+8C>G
NP_000258.1:p.?
Benign
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NF1 NM_000267.3:c.2325+16C>G
NP_000258.1:p.?
Likely Benign
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NF1 NM_000267.3:c.846G>A
NP_000258.1:p.(Q282=)
Benign
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NF1 NM_000267.3:c.2325+16C>G
NP_000258.1:p.?
Likely Benign
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NF1 NM_000267.3:c.4661+11A>G
NP_000258.1:p.?
Likely Benign
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NF1 NM_000267.3:c.4270-9A>T
NP_000258.1:p.?
Likely Benign
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NF1 NM_000267.3:c.702_704delinsATT
NP_000258.1:p.(Y235F)
VUS
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NF1 NM_000267.3:c.369C>G
NP_000258.1:p.(T123=)
Likely Benign
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NF1 NM_000267.3:c.8089_8093delinsGTTTT
NP_000258.1:p.(F2697_S2698delinsVL)
VUS
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NF1 NM_000267.3:c.2033C>T
NP_000258.1:p.(P678L)
VUS
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NF1 NM_000267.3:c.8085A>G
NP_000258.1:p.(G2695=)
VUS
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NF1 NM_000267.3:c.4686A>G
NP_000258.1:p.(E1562=)
VUS
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NF1 NM_000267.3:c.2747A>G
NP_000258.1:p.(N916S)
VUS
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