23545[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 145552	GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3	ATP6V0A2, CCDC92 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1184290	NC_000012.12:g.123628460_123712468dup	ATP6V0A2, EIF2B1 +6 more	Duplication	not provided	GUncertain significance
Select item 126286	NM_024809.5(TCTN2):c.2041T>C (p.Leu681=)	ATP6V0A2, TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +5 more	GBenign/Likely benign
Select item 307562	NM_024809.5(TCTN2):c.*45G>A	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +5 more	GConflicting classifications of pathogenicity
Select item 368984	NM_024809.5(TCTN2):c.*67C>T	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +3 more	GBenign/Likely benign
Select item 307563	NM_024809.5(TCTN2):c.*87C>T	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 307564	NM_024809.5(TCTN2):c.*155G>A	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 8 +3 more	GBenign
Select item 307567	NM_024809.5(TCTN2):c.330_331insACTC	ATP6V0A2, TCTN2	Insertion (3 prime UTR variant)	Cutis laxa, recessive +3 more	GBenign
Select item 307568	NM_024809.5(TCTN2):c.*412T>C	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +2 more	GBenign/Likely benign
Select item 307569	NM_024809.5(TCTN2):c.*468C>T	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +2 more	GBenign
Select item 1197039	NC_000012.12:g.123712055AC[8]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1193378	NC_000012.12:g.123712055AC[6]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1280269	NC_000012.12:g.123712057AC[9]	ATP6V0A2	Microsatellite	not provided	GBenign
Select item 1206994	NC_000012.12:g.123712057AC[7]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1191074	NC_000012.12:g.123712057AC[11]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 669870	NM_012463.3(ATP6V0A2):c.-511T>A	ATP6V0A2	Single nucleotide variant	not provided	GLikely benign
Select item 1249327	NC_000012.12:g.123712057T>A	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 1277865	NC_000012.12:g.123712059T>A	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 1212066	NC_000012.12:g.123712061AC[7]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1194513	NC_000012.12:g.123712061AC[5]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1191205	NC_000012.12:g.123712061AC[6]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1180031	NC_000012.12:g.123712067A>G	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 1219271	NC_000012.12:g.123712077_123712084AC[7]ATACACACAC[1]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1207961	NC_000012.12:g.123712077_123712083AC[3]ATACACACA[1]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1187077	NC_000012.12:g.123712077_123712084AC[5]ATACACACAC[1]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1199869	NC_000012.12:g.123712122T>C	ATP6V0A2	Single nucleotide variant	not provided	GLikely benign
Select item 669664	NM_012463.3(ATP6V0A2):c.-407A>T	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 669665	NM_012463.3(ATP6V0A2):c.-400G>C	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 676294	NM_012463.3(ATP6V0A2):c.-399A>T	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 676231	NM_012463.3(ATP6V0A2):c.-378G>C	ATP6V0A2, LOC130009117	Single nucleotide variant	not provided	GBenign
Select item 1213650	NC_000012.12:g.123712271G>C	ATP6V0A2, LOC130009117	Single nucleotide variant	not provided	GLikely benign
Select item 1298082	NC_000012.12:g.123712309del	ATP6V0A2, LOC130009117	Deletion	not provided	GBenign
Select item 307571	NM_012463.3(ATP6V0A2):c.-243C>A	ATP6V0A2, LOC130009117	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 307572	NM_012463.3(ATP6V0A2):c.-227A>G	LOC130009117, ATP6V0A2	Single nucleotide variant	Cutis laxa, recessive +1 more	GLikely benign
Select item 307573	NM_012463.3(ATP6V0A2):c.-222C>G	ATP6V0A2, LOC130009117 +1 more	Single nucleotide variant	Familial aplasia of the vermis +3 more	GBenign/Likely benign
Select item 307574	NM_012463.4(ATP6V0A2):c.-170C>A	ATP6V0A2, LOC130009117	Single nucleotide variant (5 prime UTR variant)	Cutis laxa, recessive +1 more	GUncertain significance
Select item 307575	NM_012463.4(ATP6V0A2):c.-148C>T	ATP6V0A2, LOC130009117	Single nucleotide variant (5 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 307576	NM_012463.4(ATP6V0A2):c.-117C>T	ATP6V0A2, LOC130009117	Single nucleotide variant (5 prime UTR variant)	Cutis laxa with osteodystrophy	GLikely benign
Select item 881884	NM_012463.4(ATP6V0A2):c.-114G>A	ATP6V0A2, LOC130009117	Single nucleotide variant (5 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 95515	NM_012463.4(ATP6V0A2):c.-14C>T	ATP6V0A2, LOC130009117 +1 more	Single nucleotide variant (5 prime UTR variant)	Cutis laxa, recessive +4 more	GBenign/Likely benign
Select item 3337835	NM_012463.4(ATP6V0A2):c.1A>T (p.Met1Leu)	ATP6V0A2, LOC130009117 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2412724	NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs)	ATP6V0A2, LOC130009117 (R6fs)	Deletion (frameshift variant)	Cutis laxa with osteodystrophy	GLikely pathogenic
Select item 1515497	NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln)	ATP6V0A2, LOC130009117 (R6Q)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1090979	NM_012463.4(ATP6V0A2):c.18G>A (p.Arg6=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2182887	NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly)	ATP6V0A2, LOC130009117 (S7G)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 425021	NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile)	LOC130009117, ATP6V0A2 (T9I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1368713	NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)	ATP6V0A2, LOC130009117 (M10V)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +4 more	GUncertain significance
Select item 776772	NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1356197	NM_012463.4(ATP6V0A2):c.34C>G (p.Leu12Val)	ATP6V0A2, LOC130009117 (L12V)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2191476	NM_012463.4(ATP6V0A2):c.63G>T (p.Thr21=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 871742	NM_012463.4(ATP6V0A2):c.65C>T (p.Ala22Val)	ATP6V0A2, LOC130009117 (A22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999880	NM_012463.4(ATP6V0A2):c.72G>A (p.Glu24=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 286400	NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)	ATP6V0A2, LOC130009117 (S27fs)	Duplication (frameshift variant)	Cutis laxa +2 more	GPathogenic/Likely pathogenic
Select item 2185625	NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1972659	NM_012463.4(ATP6V0A2):c.81C>T (p.Ser27=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 881885	NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp)	ATP6V0A2, LOC130009117 (G30D)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 2890919	NM_012463.4(ATP6V0A2):c.90C>G (p.Gly30=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1974053	NM_012463.4(ATP6V0A2):c.102G>T (p.Leu34=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2735988	NM_012463.4(ATP6V0A2):c.117+1del	ATP6V0A2, LOC130009117	Deletion (splice donor variant)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 2723697	NM_012463.4(ATP6V0A2):c.117+7G>A	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1935117	NM_012463.4(ATP6V0A2):c.117+9C>A	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2843216	NM_012463.4(ATP6V0A2):c.117+10G>A	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely benign
Select item 2714965	NM_012463.4(ATP6V0A2):c.117+13C>T	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 385242	NM_012463.4(ATP6V0A2):c.117+14G>A	LOC130009117, ATP6V0A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1547745	NM_012463.4(ATP6V0A2):c.117+18_117+19del	ATP6V0A2, LOC130009117	Microsatellite (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 509956	NM_012463.4(ATP6V0A2):c.117+17_117+20delinsTCT	ATP6V0A2, LOC130009117	Indel (intron variant)	not specified	GLikely benign
Select item 2973119	NM_012463.4(ATP6V0A2):c.117+19A>G	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1547746	NM_012463.4(ATP6V0A2):c.117+19A>T	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3009969	NM_012463.4(ATP6V0A2):c.117+20C>G	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2193059	NM_012463.4(ATP6V0A2):c.117+20_117+21insT	ATP6V0A2, LOC130009117	Insertion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1250031	NM_012463.4(ATP6V0A2):c.117+51A>C	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217128	NM_012463.4(ATP6V0A2):c.117+81G>T	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677551	NM_012463.4(ATP6V0A2):c.118-73G>A	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2165613	NM_012463.4(ATP6V0A2):c.118-13A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2761230	NM_012463.4(ATP6V0A2):c.118-6del	ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2032101	NM_012463.4(ATP6V0A2):c.118-9T>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 594101	NM_012463.4(ATP6V0A2):c.118-7_118-3del	ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2761229	NM_012463.4(ATP6V0A2):c.118-4T>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1479815	NM_012463.4(ATP6V0A2):c.118-1G>T	ATP6V0A2	Single nucleotide variant (splice acceptor variant)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 1711946	NM_012463.4(ATP6V0A2):c.128A>G (p.Asn43Ser)	ATP6V0A2 (N43S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493288	NM_012463.4(ATP6V0A2):c.170G>C (p.Arg57Thr)	ATP6V0A2 (R57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057450	NM_012463.4(ATP6V0A2):c.177A>G (p.Glu59=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ATP6V0A2-related disorder	GLikely benign
Select item 845	NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)	ATP6V0A2 (R63*)	Single nucleotide variant (nonsense)	ALG9 congenital disorder of glycosylation +3 more	GPathogenic
Select item 2165089	NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)	ATP6V0A2 (R63Q)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1218839	NM_012463.4(ATP6V0A2):c.194del (p.Leu65fs)	ATP6V0A2 (L65fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1957085	NM_012463.4(ATP6V0A2):c.196+8T>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 514198	NM_012463.4(ATP6V0A2):c.196+15T>G	ATP6V0A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1224686	NM_012463.4(ATP6V0A2):c.196+173dup	ATP6V0A2	Duplication (intron variant)	not provided	GBenign
Select item 1225878	NM_012463.4(ATP6V0A2):c.196+235G>A	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201128	NM_012463.4(ATP6V0A2):c.197-283A>G	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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