ClinVar for Gene (Select 2875) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102089	NM_005309.3(GPT):c.968G>C (p.Arg323Pro)	GPT (R323P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102088	NM_005309.3(GPT):c.968G>A (p.Arg323His)	GPT (R323H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102087	NM_005309.3(GPT):c.86G>A (p.Arg29His)	GPT (R29H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102086	NM_005309.3(GPT):c.835G>C (p.Val279Leu)	GPT (V279L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102085	NM_005309.3(GPT):c.748C>A (p.Gln250Lys)	GPT (Q250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102084	NM_005309.3(GPT):c.737C>T (p.Thr246Ile)	GPT (T246I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102083	NM_005309.3(GPT):c.536G>A (p.Arg179His)	GPT (R179H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102082	NM_005309.3(GPT):c.35T>A (p.Val12Glu)	GPT (V12E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102081	NM_005309.3(GPT):c.205G>A (p.Gly69Arg)	GPT (G69R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102080	NM_005309.3(GPT):c.1433G>A (p.Arg478Gln)	GPT (R478Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102079	NM_005309.3(GPT):c.1430T>C (p.Leu477Pro)	GPT (L477P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102078	NM_005309.3(GPT):c.1399C>T (p.Arg467Trp)	GPT (R467W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102077	NM_005309.3(GPT):c.1285C>G (p.Gln429Glu)	GPT (Q429E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102076	NM_005309.3(GPT):c.1193A>G (p.Asn398Ser)	GPT (N398S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102075	NM_005309.3(GPT):c.1118C>T (p.Ala373Val)	GPT (A373V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102074	NM_005309.3(GPT):c.1102A>T (p.Thr368Ser)	GPT (T368S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	OPLAH, PARP10 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2615458	NM_005309.3(GPT):c.1093C>A (p.Pro365Thr)	GPT (P365T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608412	NM_005309.3(GPT):c.1096G>A (p.Ala366Thr)	GPT (A366T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570046	NM_005309.3(GPT):c.329G>A (p.Arg110His)	GPT (R110H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556073	NM_005309.3(GPT):c.751A>C (p.Thr251Pro)	GPT (T251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555261	NM_005309.3(GPT):c.757G>A (p.Glu253Lys)	GPT (E253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522922	NM_005309.3(GPT):c.1097C>T (p.Ala366Val)	GPT (A366V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458077	NM_005309.3(GPT):c.92G>A (p.Arg31Gln)	GPT (R31Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405091	NM_005309.3(GPT):c.493G>A (p.Val165Met)	GPT (V165M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399145	NM_005309.3(GPT):c.113G>A (p.Arg38His)	GPT (R38H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396520	NM_005309.3(GPT):c.22C>T (p.Arg8Trp)	GPT (R8W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388071	NM_005309.3(GPT):c.1252G>A (p.Val418Met)	GPT (V418M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371652	NM_005309.3(GPT):c.1262C>A (p.Pro421His)	GPT (P421H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358946	NM_005309.3(GPT):c.193C>T (p.Arg65Cys)	GPT (R65C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336171	NM_005309.3(GPT):c.800T>C (p.Leu267Pro)	GPT (L267P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323816	NM_005309.3(GPT):c.1090C>T (p.Pro364Ser)	GPT (P364S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322901	NM_005309.3(GPT):c.1432C>T (p.Arg478Trp)	GPT (R478W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319209	NM_005309.3(GPT):c.1340C>A (p.Thr447Asn)	GPT (T447N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269504	NM_005309.3(GPT):c.260C>T (p.Ala87Val)	GPT (A87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262298	NM_005309.3(GPT):c.158G>A (p.Arg53His)	GPT (R53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257678	NM_005309.3(GPT):c.110T>C (p.Val37Ala)	GPT (V37A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255431	NM_005309.3(GPT):c.1267C>T (p.Arg423Trp)	GPT (R423W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223807	NM_005309.3(GPT):c.539C>T (p.Thr180Met)	GPT (T180M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221439	NM_005309.3(GPT):c.1324C>T (p.Arg442Cys)	GPT (R442C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217191	NM_005309.3(GPT):c.1211G>A (p.Ser404Asn)	GPT (S404N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208291	NM_005309.3(GPT):c.1378C>T (p.Arg460Trp)	GPT (R460W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2052187	NM_005309.3(GPT):c.739+43_739+84del	GPT	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 1411106	NC_000008.10:g.(?_145729802)_(145737046_?)del	GPT, MFSD3 +1 more	Deletion	Baller-Gerold syndrome	GUncertain significance
Select item 988937	GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3	HGH1, MIR1234 +44 more	Copy number gain	not provided	GUncertain significance
Select item 980336	GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3	MIR1234, PPP1R16A +19 more	Copy number gain	not provided	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 795901	NM_005309.3(GPT):c.1434G>A (p.Arg478=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793479	NM_005309.3(GPT):c.592G>C (p.Glu198Gln)	GPT (E198Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 788823	NM_005309.3(GPT):c.600C>T (p.Gly200=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782283	NM_005309.3(GPT):c.796C>G (p.Arg266Gly)	GPT (R266G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775271	NM_005309.3(GPT):c.676G>T (p.Gly226Cys)	GPT (G226C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 773406	NM_005309.3(GPT):c.320G>A (p.Arg107Lys)	GPT (R107K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 756224	NM_005309.3(GPT):c.1280G>A (p.Arg427His)	GPT (R427H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 756084	NM_005309.3(GPT):c.956+9G>A	GPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747412	NM_005309.3(GPT):c.441C>T (p.Ile147=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743546	NM_005309.3(GPT):c.381C>T (p.Ser127=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740651	NM_005309.3(GPT):c.567C>T (p.Tyr189=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738033	NM_005309.3(GPT):c.1287+8G>A	GPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 737701	NM_005309.3(GPT):c.252+10C>T	GPT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 731229	NM_005309.3(GPT):c.766G>C (p.Glu256Gln)	GPT (E256Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723955	NM_005309.3(GPT):c.306C>T (p.Asp102=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721296	NM_005309.3(GPT):c.840C>T (p.Tyr280=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720312	NM_005309.3(GPT):c.327G>A (p.Glu109=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717394	NM_005309.3(GPT):c.1354G>C (p.Val452Leu)	GPT (V452L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 717393	NM_005309.3(GPT):c.1288G>C (p.Glu430Gln)	GPT (E430Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 714261	NM_005309.3(GPT):c.174G>A (p.Lys58=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710733	NM_005309.3(GPT):c.32C>A (p.Ala11Glu)	GPT (A11E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710602	NM_005309.3(GPT):c.231G>A (p.Arg77=)	GPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686570	GRCh37/hg19 8q24.3(chr8:145695493-145798535)x3	ARHGAP39, C8orf82 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 686073	GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1	ARHGAP39, C8orf82 +11 more	Copy number loss	not provided	GUncertain significance
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic
Select item 523293	GRCh37/hg19 8q24.3(chr8:142840194-146280020)	CYP11B1, KIFC2 +86 more	Copy number gain	Intellectual disability	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic

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