PCYT1A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1268229	NM_001312673.2(PCYT1A):c.*50A>G	PCYT1A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1434824	NM_001312673.2(PCYT1A):c.1103A>C (p.Ter368Ser)	PCYT1A	Single nucleotide variant (stop lost)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome +1 more	GUncertain significance
Select item 1476964	NM_001312673.2(PCYT1A):c.1099G>A (p.Asp367Asn)	PCYT1A (D367N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733429	NM_001312673.2(PCYT1A):c.1091A>T (p.Asp364Val)	PCYT1A (D364V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1938244	NM_001312673.2(PCYT1A):c.1079A>G (p.Asp360Gly)	PCYT1A (D360G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1141600	NM_001312673.2(PCYT1A):c.1077T>C (p.Tyr359=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3305288	NM_001312673.2(PCYT1A):c.1076A>G (p.Tyr359Cys)	PCYT1A (Y359C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2065984	NM_001312673.2(PCYT1A):c.1062C>G (p.His354Gln)	PCYT1A (H354Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521274	NM_001312673.2(PCYT1A):c.1060C>T (p.His354Tyr)	PCYT1A (H354Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1100202	NM_001312673.2(PCYT1A):c.1056C>T (p.Ser352=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816841	NM_001312673.2(PCYT1A):c.1051C>T (p.Leu351Phe)	PCYT1A (L351F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005926	NM_001312673.2(PCYT1A):c.1050T>A (p.Asn350Lys)	PCYT1A (N350K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381686	NM_001312673.2(PCYT1A):c.1049A>G (p.Asn350Ser)	PCYT1A (N350S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767516	NM_001312673.2(PCYT1A):c.1047A>G (p.Ala349=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537543	NM_001312673.2(PCYT1A):c.1046C>T (p.Ala349Val)	PCYT1A (A349V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 849607	NM_001312673.2(PCYT1A):c.1042C>G (p.Pro348Ala)	PCYT1A (P348A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 836525	NM_001312673.2(PCYT1A):c.1042C>T (p.Pro348Ser)	PCYT1A (P348S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 765618	NM_001312673.2(PCYT1A):c.1041C>T (p.Ser347=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1059689	NM_001312673.2(PCYT1A):c.1039T>C (p.Ser347Pro)	PCYT1A (S347P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009313	NM_001312673.2(PCYT1A):c.1035T>G (p.Pro345=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046267	NM_001312673.2(PCYT1A):c.1030C>T (p.Pro344Ser)	PCYT1A (P344S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960215	NM_001312673.2(PCYT1A):c.1024A>G (p.Thr342Ala)	PCYT1A (T342A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994812	NM_001312673.2(PCYT1A):c.1022A>G (p.Lys341Arg)	PCYT1A (K341R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352098	NM_001312673.2(PCYT1A):c.1018G>A (p.Gly340Ser)	PCYT1A (G340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786855	NM_001312673.2(PCYT1A):c.1017C>G (p.Ser339=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608004	NM_001312673.2(PCYT1A):c.1017C>T (p.Ser339=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1047309	NM_001312673.2(PCYT1A):c.1011dup (p.Phe338fs)	PCYT1A (F338fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 833696	NM_001312673.2(PCYT1A):c.1010C>T (p.Pro337Leu)	PCYT1A (P337L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 852871	NM_001312673.2(PCYT1A):c.1009C>T (p.Pro337Ser)	PCYT1A (P337S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 941571	NM_001312673.2(PCYT1A):c.1006T>C (p.Trp336Arg)	PCYT1A (W336R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1022463	NM_001312673.2(PCYT1A):c.1004G>C (p.Arg335Pro)	PCYT1A (R335P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966124	NM_001312673.2(PCYT1A):c.1004G>A (p.Arg335Gln)	PCYT1A (R335Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1504930	NM_001312673.2(PCYT1A):c.1003C>T (p.Arg335Ter)	PCYT1A (R335*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2052147	NM_001312673.2(PCYT1A):c.996dup (p.Ser333fs)	PCYT1A (S333fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 942178	NM_001312673.2(PCYT1A):c.996del (p.Ser333fs)	PCYT1A (S333fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 716333	NM_001312673.2(PCYT1A):c.996C>G (p.Pro332=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1896613	NM_001312673.2(PCYT1A):c.994C>T (p.Pro332Ser)	PCYT1A (P332S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1613156	NM_001312673.2(PCYT1A):c.993C>G (p.Ser331=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901809	NM_001312673.2(PCYT1A):c.990C>A (p.Pro330=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 101061	NM_001312673.2(PCYT1A):c.990del (p.Ser331fs)	PCYT1A (S331fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1461595	NM_001312673.2(PCYT1A):c.989C>T (p.Pro330Leu)	PCYT1A (P330L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1117787	NM_001312673.2(PCYT1A):c.988C>T (p.Pro330Ser)	PCYT1A (P330S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1113770	NM_001312673.2(PCYT1A):c.984C>T (p.Arg328=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 837047	NM_001312673.2(PCYT1A):c.983G>A (p.Arg328His)	PCYT1A (R328H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1400085	NM_001312673.2(PCYT1A):c.982C>T (p.Arg328Cys)	PCYT1A (R328C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1551543	NM_001312673.2(PCYT1A):c.981G>A (p.Glu327=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954073	NM_001312673.2(PCYT1A):c.980A>G (p.Glu327Gly)	PCYT1A (E327G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 842981	NM_001312673.2(PCYT1A):c.979G>A (p.Glu327Lys)	PCYT1A (E327K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1084008	NM_001312673.2(PCYT1A):c.978C>A (p.Arg326=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 965042	NM_001312673.2(PCYT1A):c.978C>T (p.Arg326=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2061140	NM_001312673.2(PCYT1A):c.977G>T (p.Arg326Leu)	PCYT1A (R326L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026325	NM_001312673.2(PCYT1A):c.977G>A (p.Arg326His)	PCYT1A (R326H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 957928	NM_001312673.2(PCYT1A):c.976C>T (p.Arg326Cys)	PCYT1A (R326C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 957039	NM_001312673.2(PCYT1A):c.973A>G (p.Thr325Ala)	PCYT1A (T325A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1107293	NM_001312673.2(PCYT1A):c.969C>T (p.Ser323=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 101065	NM_001312673.2(PCYT1A):c.968dup (p.Ser323fs)	PCYT1A (S323fs)	Duplication (frameshift variant)	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2048528	NM_001312673.2(PCYT1A):c.964A>G (p.Ser322Gly)	PCYT1A (S322G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974568	NM_001312673.2(PCYT1A):c.960C>T (p.Pro320=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1303447	NM_001312673.2(PCYT1A):c.958C>T (p.Pro320Ser)	PCYT1A (P320S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 762059	NM_001312673.2(PCYT1A):c.957C>T (p.Ser319=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 373771	NM_001312673.2(PCYT1A):c.955_956dup (p.Ser319fs)	PCYT1A (S319fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1900022	NM_001312673.2(PCYT1A):c.948G>A (p.Pro316=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466661	NM_001312673.2(PCYT1A):c.947C>T (p.Pro316Leu)	PCYT1A (P316L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1139174	NM_001312673.2(PCYT1A):c.945C>T (p.Ser315=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1373661	NM_001312673.2(PCYT1A):c.944G>A (p.Ser315Asn)	PCYT1A (S315N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001087	NM_001312673.2(PCYT1A):c.944G>C (p.Ser315Thr)	PCYT1A (S315T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440425	NM_001312673.2(PCYT1A):c.943A>G (p.Ser315Gly)	PCYT1A (S315G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602661	NM_001312673.2(PCYT1A):c.939C>T (p.Ala313=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741474	NM_001312673.2(PCYT1A):c.938C>T (p.Ala313Val)	PCYT1A (A313V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1504572	NM_001312673.2(PCYT1A):c.937G>A (p.Ala313Thr)	PCYT1A (A313T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2085805	NM_001312673.2(PCYT1A):c.932T>C (p.Leu311Pro)	PCYT1A (L311P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498901	NM_001312673.2(PCYT1A):c.926G>C (p.Arg309Pro)	PCYT1A (R309P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058734	NM_001312673.2(PCYT1A):c.926G>A (p.Arg309Gln)	PCYT1A (R309Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183353	NM_001312673.2(PCYT1A):c.924C>T (p.Gly308=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166756	NM_001312673.2(PCYT1A):c.903T>C (p.His301=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2958513	NM_001312673.2(PCYT1A):c.898-11G>C	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101665	NM_001312673.2(PCYT1A):c.898-11G>T	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671216	NM_001312673.2(PCYT1A):c.898-12C>T	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629901	NM_001312673.2(PCYT1A):c.898-12C>G	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925768	NM_001312673.2(PCYT1A):c.898-16C>G	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281465	NM_001312673.2(PCYT1A):c.897+160C>T	PCYT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1058009	NM_001312673.2(PCYT1A):c.897+16C>G	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004128	NM_001312673.2(PCYT1A):c.897+13C>T	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636681	NM_001312673.2(PCYT1A):c.897+12C>T	PCYT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1126824	NM_001312673.2(PCYT1A):c.897+8C>G	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775442	NM_001312673.2(PCYT1A):c.897+1G>A	PCYT1A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1616801	NM_001312673.2(PCYT1A):c.891A>G (p.Gly297=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507552	NM_001312673.2(PCYT1A):c.885G>A (p.Pro295=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1026995	NM_001312673.2(PCYT1A):c.884C>T (p.Pro295Leu)	PCYT1A (P295L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112459	NM_001312673.2(PCYT1A):c.871G>C (p.Glu291Gln)	PCYT1A (E291Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388002	NM_001312673.2(PCYT1A):c.857T>C (p.Ile286Thr)	PCYT1A (I286T)	Single nucleotide variant (missense variant)	not provided	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 1014923	NM_001312673.2(PCYT1A):c.848G>A (p.Arg283Gln)	PCYT1A (R283Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 101060	NM_001312673.2(PCYT1A):c.847C>T (p.Arg283Ter)	PCYT1A (R283*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1004313	NM_001312673.2(PCYT1A):c.835GAG[1] (p.Glu280del)	PCYT1A (E280del)	Microsatellite	not provided	GUncertain significance
Select item 1528098	NM_001312673.2(PCYT1A):c.831G>A (p.Lys277=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919985	NM_001312673.2(PCYT1A):c.830A>G (p.Lys277Arg)	PCYT1A (K277R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635954	NM_001312673.2(PCYT1A):c.819C>T (p.Asp273=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633329	NM_001312673.2(PCYT1A):c.813C>T (p.Ser271=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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