ClinVar for Gene (Select 5130) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3305286	NM_001312673.2(PCYT1A):c.50A>G (p.Glu17Gly)	PCYT1A (E17G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247001	NC_000003.11:g.(?_195984639)_(195984778_?)del	PCYT1A	Deletion	not provided	GUncertain significance
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3148878	GRCh37/hg19 3q29(chr3:195739427-197340833)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 3062683	GRCh37/hg19 3q29(chr3:195792450-196145838)x3	DYNLT2B, PCYT1A +5 more	Copy number gain	not specified	GUncertain significance
Select item 3004128	NM_001312673.2(PCYT1A):c.897+13C>T	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974568	NM_001312673.2(PCYT1A):c.960C>T (p.Pro320=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958513	NM_001312673.2(PCYT1A):c.898-11G>C	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900712	NM_001312673.2(PCYT1A):c.566-6A>C	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866223	NM_001312673.2(PCYT1A):c.117+9A>C	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839610	NM_001312673.2(PCYT1A):c.183G>A (p.Arg61=)	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 2812587	NM_001312673.2(PCYT1A):c.566-17A>G	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799635	NM_001312673.2(PCYT1A):c.566-13G>A	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786855	NM_001312673.2(PCYT1A):c.1017C>G (p.Ser339=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784875	NM_001312673.2(PCYT1A):c.566-4T>G	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2775442	NM_001312673.2(PCYT1A):c.897+1G>A	PCYT1A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2775441	NM_001312673.2(PCYT1A):c.277G>A (p.Ala93Thr)	PCYT1A (A93T)	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 2698111	NM_001312673.2(PCYT1A):c.218-18T>G	PCYT1A	Single nucleotide variant (intron 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 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2551759	NM_001312673.2(PCYT1A):c.317C>T (p.Thr106Met)	PCYT1A (T106M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	BDH1, CEP19 +113 more	Copy number loss	See cases	GPathogenic
Select item 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	BDH1, CEP19 +26 more	Duplication	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 2425277	NC_000003.11:g.(?_195965559)_(195984778_?)dup	PCYT1A	Duplication	not provided	GUncertain significance
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 2234054	NM_001312673.2(PCYT1A):c.74C>T (p.Thr25Ile)	PCYT1A (T25I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2177712	NM_001312673.2(PCYT1A):c.621C>T (p.Thr207=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2126996	NM_001312673.2(PCYT1A):c.181A>G (p.Arg61Gly)	PCYT1A (R61G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125570	NM_001312673.2(PCYT1A):c.708+14T>G	PCYT1A	Single nucleotide variant (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 2117192	NM_001312673.2(PCYT1A):c.88G>T (p.Val30Phe)	PCYT1A (V30F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116053	NM_001312673.2(PCYT1A):c.709-1G>C	PCYT1A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2114253	NM_001312673.2(PCYT1A):c.527C>T (p.Ala176Val)	PCYT1A (A176V)	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 2107941	NM_001312673.2(PCYT1A):c.618C>A (p.Ile206=)	PCYT1A	Single nucleotide variant (synonymous 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 2097580	NM_001312673.2(PCYT1A):c.58G>A (p.Gly20Arg)	PCYT1A (G20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093124	NM_001312673.2(PCYT1A):c.22A>C (p.Lys8Gln)	PCYT1A (K8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2065984	NM_001312673.2(PCYT1A):c.1062C>G (p.His354Gln)	PCYT1A (H354Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062226	NM_001312673.2(PCYT1A):c.8C>A (p.Ala3Glu)	PCYT1A (A3E)	Single nucleotide variant (missense 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 2052147	NM_001312673.2(PCYT1A):c.996dup (p.Ser333fs)	PCYT1A (S333fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2050425	NM_001312673.2(PCYT1A):c.650C>T (p.Ala217Val)	PCYT1A (A217V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2045488	NM_001312673.2(PCYT1A):c.598A>G (p.Ile200Val)	PCYT1A (I200V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028803	NM_001312673.2(PCYT1A):c.318G>T (p.Thr106=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026814	NM_001312673.2(PCYT1A):c.75A>G (p.Thr25=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019653	NM_001312673.2(PCYT1A):c.54G>C (p.Ala18=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018591	NM_001312673.2(PCYT1A):c.118-11C>T	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014718	NM_001312673.2(PCYT1A):c.218-12A>G	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2012763	NM_001312673.2(PCYT1A):c.92C>T (p.Pro31Leu)	PCYT1A (P31L)	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 1995665	NM_001312673.2(PCYT1A):c.63C>A (p.Pro21=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1978673	NM_001312673.2(PCYT1A):c.735G>T (p.Arg245Ser)	PCYT1A (R245S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977185	NM_001312673.2(PCYT1A):c.14G>A (p.Cys5Tyr)	PCYT1A (C5Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973818	NM_001312673.2(PCYT1A):c.588G>A (p.Arg196=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1954073	NM_001312673.2(PCYT1A):c.980A>G (p.Glu327Gly)	PCYT1A (E327G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953295	NM_001312673.2(PCYT1A):c.776A>G (p.Lys259Arg)	PCYT1A (K259R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952258	NM_001312673.2(PCYT1A):c.622C>T (p.Arg208Ter)	PCYT1A (R208*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1949656	NM_001312673.2(PCYT1A):c.708+8C>G	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944223	NM_001312673.2(PCYT1A):c.779C>G (p.Ser260Ter)	PCYT1A (S260*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1935782	NM_001312673.2(PCYT1A):c.21C>A (p.Ala7=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928359	NM_001312673.2(PCYT1A):c.536A>T (p.Asp179Val)	PCYT1A (D179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925768	NM_001312673.2(PCYT1A):c.898-16C>G	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925592	NM_001312673.2(PCYT1A):c.281G>A (p.Arg94Gln)	PCYT1A (R94Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1901809	NM_001312673.2(PCYT1A):c.990C>A (p.Pro330=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900022	NM_001312673.2(PCYT1A):c.948G>A (p.Pro316=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1809391	GRCh37/hg19 3q29(chr3:195725291-195968808)x3	TFRC, PCYT1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809243	GRCh37/hg19 3q29(chr3:195790857-196543483)x1	CEP19, DYNLT2B +13 more	Copy number loss	not provided	GUncertain significance
Select item 1808666	GRCh37/hg19 3q29(chr3:195690228-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703655	GRCh37/hg19 3q29(chr3:195703615-197386180)	BDH1, CEP19 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1679598	Single allele	LOC129938264, LOC129938265 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1671216	NM_001312673.2(PCYT1A):c.898-12C>T	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667875	NM_001312673.2(PCYT1A):c.34A>C (p.Arg12=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1665695	NM_001312673.2(PCYT1A):c.630G>A (p.Val210=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1664273	NM_001312673.2(PCYT1A):c.487-11C>G	PCYT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655602	NM_001312673.2(PCYT1A):c.204C>T (p.Ser68=)	PCYT1A	Single nucleotide variant (synonymous 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

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