Related gene-specific medical variations for Gene (Select 5833) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341654	NM_148896.5(NPB):c.185C>T (p.Ala62Val)	LOC130061982, NPB +1 more (A62V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3300735	NM_148896.5(NPB):c.137G>A (p.Gly46Asp)	LOC130061982, NPB +1 more (G46D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300734	NM_148896.5(NPB):c.91G>A (p.Gly31Arg)	LOC130061982, NPB +1 more (G31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256733	NM_002861.5(PCYT2):c.88T>G (p.Cys30Gly)	PCYT2, LOC130061984 (C30G)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 82, autosomal recessive	GLikely pathogenic
Select item 3210516	NM_002861.5(PCYT2):c.77G>T (p.Trp26Leu)	LOC130061984, PCYT2 (W26L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210514	NM_002861.5(PCYT2):c.20G>A (p.Gly7Glu)	LOC130061984, PCYT2 (G7E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201555	NM_148896.5(NPB):c.247C>G (p.Leu83Val)	LOC130061982, NPB +1 more (L83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201554	NM_148896.5(NPB):c.122C>G (p.Ala41Gly)	LOC130061982, NPB +1 more (A41G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619573	NM_002861.5(PCYT2):c.20G>C (p.Gly7Ala)	LOC130061984, PCYT2 (G7A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615890	NM_148896.5(NPB):c.35T>C (p.Leu12Pro)	NPB, PCYT2 (L12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470995	NM_002861.5(PCYT2):c.68T>C (p.Val23Ala)	LOC130061984, PCYT2 (V23A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455961	NM_148896.5(NPB):c.306C>A (p.Asp102Glu)	LOC130061982, NPB +1 more (D102E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2434618	NM_002861.5(PCYT2):c.175G>T (p.Asp59Tyr)	PCYT2 (D27Y +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 82, autosomal recessive	GUncertain significance
Select item 2406205	NM_148896.5(NPB):c.149C>T (p.Ser50Phe)	LOC130061982, NPB +1 more (S50F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348286	NM_148896.5(NPB):c.370G>A (p.Ala124Thr)	NPB, PCYT2 (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343879	NM_148896.5(NPB):c.238C>A (p.Leu80Met)	LOC130061982, NPB +1 more (L80M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317275	NM_148896.5(NPB):c.58C>T (p.Pro20Ser)	NPB, PCYT2 (P20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308763	NM_148896.5(NPB):c.134C>G (p.Ser45Cys)	LOC130061982, NPB +1 more (S45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249192	NM_148896.5(NPB):c.143G>A (p.Arg48His)	LOC130061982, NPB +1 more (R48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226674	NM_002861.5(PCYT2):c.46G>A (p.Gly16Ser)	LOC130061984, PCYT2 (G16S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1700761	NM_002861.5(PCYT2):c.71G>C (p.Arg24Thr)	LOC130061984, PCYT2 (R24T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 21