Related gene-specific medical variations for Gene (Select 5130) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247001	NC_000003.11:g.(?_195984639)_(195984778_?)del	PCYT1A	Deletion	not provided	GUncertain significance
Select item 2779772	NM_001312673.2(PCYT1A):c.396C>G (p.Arg132=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691732	NM_001312673.2(PCYT1A):c.424G>A (p.Val142Met)	LOC126806932, PCYT1A	Single nucleotide variant (missense variant)	Lipodystrophy, congenital generalized, type 5	GPathogenic
Select item 2284547	NM_001312673.2(PCYT1A):c.397T>C (p.Tyr133His)	LOC126806932, PCYT1A (Y133H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2158558	NM_001312673.2(PCYT1A):c.485G>A (p.Arg162Gln)	LOC126806932, PCYT1A (R162Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127392	NM_001312673.2(PCYT1A):c.486+13del	LOC126806932, PCYT1A	Deletion (intron variant)	not provided	GLikely benign
Select item 2119053	NM_001312673.2(PCYT1A):c.481C>T (p.His161Tyr)	PCYT1A, LOC126806932 (H161Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118060	NM_001312673.2(PCYT1A):c.486+12del	LOC126806932, PCYT1A	Deletion (intron variant)	not provided	GLikely benign
Select item 1912881	NM_001312673.2(PCYT1A):c.466G>A (p.Glu156Lys)	LOC126806932, PCYT1A (E156K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902209	NM_001312673.2(PCYT1A):c.486+20T>C	LOC126806932, PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652471	NM_001312673.2(PCYT1A):c.375G>A (p.Thr125=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641701	NM_001312673.2(PCYT1A):c.423C>T (p.Tyr141=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565369	NM_001312673.2(PCYT1A):c.456G>A (p.Thr152=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549736	NM_001312673.2(PCYT1A):c.465C>T (p.Pro155=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545225	NM_001312673.2(PCYT1A):c.354A>G (p.Thr118=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543942	NM_001312673.2(PCYT1A):c.447G>T (p.Ala149=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510388	NM_001312673.2(PCYT1A):c.365A>G (p.Lys122Arg)	LOC126806932, PCYT1A (K122R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469536	NM_001312673.2(PCYT1A):c.355C>T (p.His119Tyr)	LOC126806932, PCYT1A (H119Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377005	NM_001312673.2(PCYT1A):c.478G>C (p.Glu160Gln)	LOC126806932, PCYT1A (E160Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362380	NM_001312673.2(PCYT1A):c.446C>T (p.Ala149Val)	LOC126806932, PCYT1A (A149V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361916	NM_001312673.2(PCYT1A):c.484C>T (p.Arg162Trp)	LOC126806932, PCYT1A (R162W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361695	NM_001312673.2(PCYT1A):c.403G>A (p.Ala135Thr)	LOC126806932, PCYT1A (A135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353765	NM_001312673.2(PCYT1A):c.486G>A (p.Arg162=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1232257	NM_001312673.2(PCYT1A):c.486+57A>G	LOC126806932, PCYT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169260	NM_001312673.2(PCYT1A):c.335-12G>C	LOC126806932, PCYT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1141104	NM_001312673.2(PCYT1A):c.408C>T (p.Val136=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1138552	NM_001312673.2(PCYT1A):c.390T>C (p.Asn130=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1131275	NM_001312673.2(PCYT1A):c.447G>A (p.Ala149=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1127542	NM_001312673.2(PCYT1A):c.384C>T (p.Asn128=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1093046	NM_001312673.2(PCYT1A):c.402C>T (p.Asp134=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080089	NM_001312673.2(PCYT1A):c.477C>T (p.Ala159=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032964	NM_001312673.2(PCYT1A):c.389A>G (p.Asn130Ser)	LOC126806932, PCYT1A (N130S)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1023867	NM_001312673.2(PCYT1A):c.335-9_335-7del	LOC126806932, PCYT1A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1011161	NM_001312673.2(PCYT1A):c.475G>T (p.Ala159Ser)	LOC126806932, PCYT1A (A159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999419	NM_001312673.2(PCYT1A):c.418C>T (p.Arg140Cys)	PCYT1A, LOC126806932 (R140C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853459	NM_001312673.2(PCYT1A):c.395G>A (p.Arg132His)	LOC126806932, PCYT1A (R132H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809597	NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu)	LOC126806932, PCYT1A (F157L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis +1 more	GConflicting classifications of pathogenicity
Select item 747237	NM_001312673.2(PCYT1A):c.348G>A (p.Glu116=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735613	NM_001312673.2(PCYT1A):c.441G>A (p.Arg147=)	LOC126806932, PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721254	NM_001312673.2(PCYT1A):c.478G>A (p.Glu160Lys)	LOC126806932, PCYT1A (E160K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 373332	NM_001312673.2(PCYT1A):c.374C>T (p.Thr125Met)	LOC126806932, PCYT1A (T125M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 101063	NM_001312673.2(PCYT1A):c.385G>A (p.Glu129Lys)	LOC126806932, PCYT1A (E129K)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	GPathogenic
Select item 101058	NM_001312673.2(PCYT1A):c.448C>G (p.Pro150Ala)	LOC126806932, PCYT1A (P150A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 43