Related gene-specific medical variations for Gene (Select 4974) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302308	NM_002544.5(OMG):c.1076A>G (p.Asp359Gly)	NF1, OMG (D359G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302307	NM_002544.5(OMG):c.799T>C (p.Tyr267His)	NF1, OMG (Y267H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302306	NM_002544.5(OMG):c.713T>C (p.Leu238Ser)	NF1, OMG (L238S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302305	NM_002544.5(OMG):c.926C>T (p.Thr309Ile)	NF1, OMG (T309I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204305	NM_002544.5(OMG):c.571A>G (p.Thr191Ala)	NF1, OMG (T191A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204304	NM_002544.5(OMG):c.349T>G (p.Ser117Ala)	NF1, OMG (S117A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204303	NM_002544.5(OMG):c.1196C>T (p.Thr399Ile)	NF1, OMG (T399I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204302	NM_002544.5(OMG):c.1133T>C (p.Met378Thr)	NF1, OMG (M378T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204301	NM_002544.5(OMG):c.1006G>A (p.Glu336Lys)	NF1, OMG (E336K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055468	NM_002544.5(OMG):c.62G>A (p.Gly21Asp)	NF1, OMG (G21D)	Single nucleotide variant (missense variant +1 more)	OMG-related disorder	GBenign
Select item 3054841	NM_002544.5(OMG):c.1251T>G (p.Ser417=)	NF1, OMG	Single nucleotide variant (synonymous variant +1 more)	OMG-related disorder	GLikely benign
Select item 3029883	NM_002544.5(OMG):c.516G>A (p.Val172=)	NF1, OMG	Single nucleotide variant (synonymous variant +1 more)	OMG-related disorder	GLikely benign
Select item 2691923	NM_001042492.3(NF1):c.4836-28663G>A	NF1, OMG	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 2647633	NM_002544.5(OMG):c.1266G>C (p.Trp422Cys)	NF1, OMG (W422C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2616532	NM_002544.5(OMG):c.1238C>T (p.Thr413Ile)	NF1, OMG (T413I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612712	NM_002544.5(OMG):c.278T>C (p.Leu93Pro)	NF1, OMG (L93P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603863	NM_002544.5(OMG):c.1066C>G (p.His356Asp)	NF1, OMG (H356D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581202	NM_001042492.3(NF1):c.4836-29639A>G	NF1, OMG (S51P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470068	NM_002544.5(OMG):c.312G>A (p.Met104Ile)	NF1, OMG (M104I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457026	NM_002544.5(OMG):c.1037A>G (p.His346Arg)	NF1, OMG (H346R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397559	NM_002544.5(OMG):c.445G>A (p.Glu149Lys)	NF1, OMG (E149K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372755	NM_002544.5(OMG):c.1318G>C (p.Val440Leu)	NF1, OMG (V440L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343673	NM_002544.5(OMG):c.997C>T (p.Pro333Ser)	NF1, OMG (P333S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322867	NM_002544.5(OMG):c.1178T>C (p.Met393Thr)	NF1, OMG (M393T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749782	NM_002544.5(OMG):c.1233A>G (p.Val411=)	NF1, OMG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 736429	NM_002544.5(OMG):c.1110A>C (p.Ser370=)	NF1, OMG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 445498	NM_002544.5(OMG):c.1304T>C (p.Val435Ala)	OMG, NF1 (V435A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 445481	NM_001042492.3(NF1):c.4835+29771T>C	NF1, OMG (T408A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign

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Links from Gene

Items: 28