DPAGT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 255485	NM_000190.4(HMBS):c.606G>T (p.Val202=)	DPAGT1, HMBS	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3103761	NM_002105.3(H2AX):c.426G>C (p.Glu142Asp)	DPAGT1, H2AX (E142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103762	NM_002105.3(H2AX):c.47A>G (p.Lys16Arg)	DPAGT1, H2AX (K16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103760	NM_002105.3(H2AX):c.25G>A (p.Gly9Ser)	DPAGT1, H2AX (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1296893	NC_000011.10:g.119095811C>T	DPAGT1, H2AX	Single nucleotide variant	not provided	GBenign
Select item 302739	NM_001382.4(DPAGT1):c.*484T>C	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302740	NM_001382.4(DPAGT1):c.*427T>G	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 302741	NM_001382.4(DPAGT1):c.*417T>C	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 878275	NM_001382.4(DPAGT1):c.*390A>G	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 878276	NM_001382.4(DPAGT1):c.*386G>A	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302742	NM_001382.4(DPAGT1):c.*379G>T	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302743	NM_001382.4(DPAGT1):c.*369A>G	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302744	NM_001382.4(DPAGT1):c.*265A>G	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 878873	NM_001382.4(DPAGT1):c.*241T>C	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 302745	NM_001382.4(DPAGT1):c.*184G>A	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	Acute intermittent porphyria +3 more	GBenign
Select item 368940	NM_001382.4(DPAGT1):c.*159G>A	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	Acute intermittent porphyria +1 more	GConflicting classifications of pathogenicity
Select item 1584126	NM_001382.4(DPAGT1):c.1224C>T (p.Val408=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 302746	NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1484030	NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn)	DPAGT1 (D407N)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1489823	NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe)	DPAGT1 (L404F)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1956055	NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)	DPAGT1 (R403Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2039259	NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)	DPAGT1 (R403*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 13 +2 more	GUncertain significance
Select item 663782	NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)	DPAGT1 (V402I)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 703939	NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 652219	NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)	DPAGT1 (L401F)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +3 more	GUncertain significance
Select item 2039324	NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)	DPAGT1 (Q400H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 996651	NM_001382.4(DPAGT1):c.1197T>A (p.Tyr399Ter)	DPAGT1 (Y399*)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 838195	NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln)	DPAGT1 (R398Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +2 more	GUncertain significance
Select item 1361337	NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter)	DPAGT1 (R398*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1530551	NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1438778	NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro)	DPAGT1 (T394P)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 93728	NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)	DPAGT1, HMBS (I393V)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +5 more	GBenign
Select item 2027603	NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1518352	NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu)	DPAGT1 (I388L)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2138908	NM_001382.4(DPAGT1):c.1162-14A>G	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2035051	NM_001382.4(DPAGT1):c.1161+18G>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 516551	NM_001382.4(DPAGT1):c.1161+16G>A	DPAGT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1619138	NM_001382.4(DPAGT1):c.1161+15C>T	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 798553	NM_001382.4(DPAGT1):c.1161+10G>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1583593	NM_001382.4(DPAGT1):c.1161+9G>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 857268	NM_001382.4(DPAGT1):c.1161+5G>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1118375	NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1009921	NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg)	DPAGT1 (L385R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1463034	NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser)	DPAGT1 (L381S)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 760794	NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1373663	NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)	DPAGT1 (T380I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GLikely pathogenic
Select item 1668893	NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 3233256	NM_001382.4(DPAGT1):c.1133A>T (p.Asn378Ile)	DPAGT1 (N378I)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GPathogenic
Select item 429774	NM_001382.4(DPAGT1):c.1123C>T (p.His375Tyr)	DPAGT1 (H375Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1035261	NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser)	DPAGT1 (P373S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 996712	NM_001382.4(DPAGT1):c.1117C>G (p.Pro373Ala)	DPAGT1 (P373A)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 1571852	NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 942896	NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val)	DPAGT1 (L367V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1299537	NM_001382.4(DPAGT1):c.1097T>C (p.Leu366Ser)	DPAGT1 (L366S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13	GLikely pathogenic
Select item 1119513	NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1472081	NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys)	DPAGT1 (E351K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2925852	NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2022211	NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1035230	NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)	DPAGT1 (H346R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +2 more	GConflicting classifications of pathogenicity
Select item 802806	NM_001382.4(DPAGT1):c.1036C>G (p.His346Asp)	DPAGT1 (H346D)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2010698	NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)	DPAGT1 (V345I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 756562	NM_001382.4(DPAGT1):c.1026G>A (p.Leu342=)	DPAGT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1018370	NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val)	DPAGT1 (L342V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1524806	NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe)	DPAGT1 (L340F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 473241	NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala)	DPAGT1 (V336A)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1646612	NM_001382.4(DPAGT1):c.1006-6C>T	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 754492	NM_001382.4(DPAGT1):c.1006-8C>G	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 647040	NM_001382.4(DPAGT1):c.1005+6A>T	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1895994	NM_001382.4(DPAGT1):c.1005+5C>T	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2954181	NM_001382.4(DPAGT1):c.1005+1G>A	DPAGT1	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 13 +1 more	GLikely pathogenic
Select item 965363	NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr)	DPAGT1 (K335T)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 167007	NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)	DPAGT1, HMBS (F332V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +3 more	GConflicting classifications of pathogenicity
Select item 1595636	NM_001382.4(DPAGT1):c.993C>T (p.Thr331=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1021954	NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp)	DPAGT1 (G330D)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3085416	NM_001382.4(DPAGT1):c.976C>T (p.Leu326Phe)	DPAGT1 (L326F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 540460	NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val)	DPAGT1 (L326V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 916396	NM_001382.4(DPAGT1):c.951C>G (p.Ser317Arg)	DPAGT1 (S317R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 941063	NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly)	DPAGT1 (E315G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 706605	NM_001382.4(DPAGT1):c.933A>G (p.Thr311=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1543349	NM_001382.4(DPAGT1):c.930G>A (p.Lys310=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 302747	NM_001382.4(DPAGT1):c.918-4G>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 511627	NM_001382.4(DPAGT1):c.918-5C>T	DPAGT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 473243	NM_001382.4(DPAGT1):c.918-8C>T	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 664042	NM_001382.4(DPAGT1):c.918-10C>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2922463	NM_001382.4(DPAGT1):c.918-15A>G	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 258077	NM_001382.4(DPAGT1):c.918-18G>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +3 more	GBenign/Likely benign
Select item 2111310	NM_001382.4(DPAGT1):c.917+7G>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 941441	NM_001382.4(DPAGT1):c.917+6C>T	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance

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