LOC130009117[gene] - ClinVar

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Items: 53

	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 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	ATP6V0A2, LOC130009117	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	Cutis laxa, recessive +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)	Familial aplasia of the vermis +5 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)	LOC130009117, ATP6V0A2 (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)	ATP6V0A2, LOC130009117 (T9I)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy +3 more	GUncertain significance
Select item 1368713	NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)	ATP6V0A2, LOC130009117 (M10V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	ALG9 congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 2185625	NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=)	LOC130009117, ATP6V0A2	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	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)	Cutis laxa with osteodystrophy +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

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Items: 53