ClinVar for MedGen (Select 324684) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431393	NM_001312673.2(PCYT1A):c.935dup (p.Ala313fs)	PCYT1A (A313fs)	Duplication (frameshift variant)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	GLikely pathogenic
Select item 1434824	NM_001312673.2(PCYT1A):c.1103A>C (p.Ter368Ser)	PCYT1A	Single nucleotide variant (stop lost)	not provided +1 more	GUncertain significance
Select item 1426118	NM_001312673.2(PCYT1A):c.88G>A (p.Val30Ile)	PCYT1A (V30I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032965	NM_001312673.2(PCYT1A):c.850G>T (p.Glu284Ter)	PCYT1A (E284*)	Single nucleotide variant (nonsense)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	GPathogenic
Select item 1032964	NM_001312673.2(PCYT1A):c.389A>G (p.Asn130Ser)	PCYT1A, LOC126806932 (N130S)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 956587	NM_001312673.2(PCYT1A):c.325A>G (p.Ile109Val)	PCYT1A (I109V)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome +1 more	GUncertain significance
Select item 101065	NM_001312673.2(PCYT1A):c.968dup (p.Ser323fs)	PCYT1A (S323fs)	Duplication (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 101064	NM_001312673.2(PCYT1A):c.571T>C (p.Phe191Leu)	PCYT1A (F191L)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	GPathogenic
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 101062	NM_001312673.2(PCYT1A):c.669G>C (p.Arg223Ser)	PCYT1A (R223S)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	GPathogenic
Select item 101061	NM_001312673.2(PCYT1A):c.990del (p.Ser331fs)	PCYT1A (S331fs)	Deletion (frameshift variant)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 101060	NM_001312673.2(PCYT1A):c.847C>T (p.Arg283Ter)	PCYT1A (R283*)	Single nucleotide variant (nonsense)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 101059	NM_001312673.2(PCYT1A):c.295G>A (p.Ala99Thr)	PCYT1A (A99T)	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)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 101057	NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val)	PCYT1A (A99V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic