Related gene-specific medical variations for Gene (Select 4905) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358937	NM_006178.4(NSF):c.1600A>G (p.Thr534Ala)	NSF (T534A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96	GLikely pathogenic
Select item 3339998	NM_006178.4(NSF):c.1814T>C (p.Ile605Thr)	LRRC37A2, NSF (I605T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301145	NM_006178.4(NSF):c.1615G>A (p.Val539Met)	LRRC37A2, NSF (V539M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202345	NM_006178.4(NSF):c.2074A>G (p.Thr692Ala)	LRRC37A2, NSF (T692A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025118	NM_006178.4(NSF):c.1516G>A (p.Gly506Ser)	LRRC37A2, NSF (G506S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2647869	NM_006178.4(NSF):c.2125A>C (p.Lys709Gln)	LRRC37A2, NSF (K709Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647868	NM_006178.4(NSF):c.1937C>G (p.Thr646Ser)	LRRC37A2, NSF (T646S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647867	NM_006178.4(NSF):c.1825C>T (p.Leu609Phe)	LRRC37A2, NSF (L609F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647866	NM_006178.4(NSF):c.1296G>A (p.Glu432=)	LRRC37A2, NSF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647865	NM_006178.4(NSF):c.1291G>A (p.Val431Met)	LRRC37A2, NSF (V431M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2647864	NM_006178.4(NSF):c.951T>A (p.Gly317=)	LRRC37A2, NSF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2528002	NM_006178.4(NSF):c.1039C>T (p.His347Tyr)	LRRC37A2, NSF (H347Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2500351	NM_006178.4(NSF):c.1078G>T (p.Gly360Cys)	LRRC37A2, NSF (G360C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96	GUncertain significance
Select item 2474496	NM_006178.4(NSF):c.1031C>T (p.Thr344Met)	LRRC37A2, NSF (T344M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2434446	NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)	LRRC37A2, NSF (P563R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96	GLikely pathogenic
Select item 2329962	NM_006178.4(NSF):c.2009T>C (p.Ile670Thr)	LRRC37A2, NSF (I670T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318210	NM_006178.4(NSF):c.2071C>T (p.Arg691Cys)	LRRC37A2, NSF (R691C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308915	NM_006178.4(NSF):c.1246G>A (p.Gly416Arg)	LRRC37A2, NSF (G416R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1699024	NM_006178.4(NSF):c.1590_1592dup (p.Ser531_Asp532insSer)	LRRC37A2, NSF	Duplication (inframe_insertion +1 more)	Developmental and epileptic encephalopathy 96	GUncertain significance
Select item 1335280	NM_006178.4(NSF):c.1275C>T (p.Asp425=)	LRRC37A2, NSF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1321305	NM_006178.4(NSF):c.1359G>A (p.Met453Ile)	LRRC37A2, NSF (M453I)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96	GUncertain significance
Select item 1120202	NM_006178.4(NSF):c.1688C>T (p.Pro563Leu)	LRRC37A2, NSF (P563L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96 +1 more	GPathogenic/Likely pathogenic
Select item 1120201	NM_006178.4(NSF):c.1375G>A (p.Ala459Thr)	LRRC37A2, NSF (A459T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96	GPathogenic
Select item 775110	NM_006178.4(NSF):c.1731T>C (p.Ser577=)	LRRC37A2, NSF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 585125	NM_006178.4(NSF):c.1289C>T (p.Ala430Val)	NSF, LRRC37A2 (A430V)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided

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Links from Gene

Items: 25