ClinVar for MedGen (Select 82795) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256749	NM_012463.4(ATP6V0A2):c.1609T>C (p.Trp537Arg)	ATP6V0A2 (W537R)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy	GLikely pathogenic
Select item 2882130	NM_012463.4(ATP6V0A2):c.1046del (p.Ser349fs)	ATP6V0A2 (S349fs)	Deletion (frameshift variant)	Cutis laxa with osteodystrophy	GLikely pathogenic
Select item 2687870	NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs)	ATP6V0A2 (Y753fs)	Duplication (frameshift variant)	Cutis laxa with osteodystrophy	GPathogenic
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 2069270	NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)	ATP6V0A2 (A326S)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 1698977	NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr)	ATP6V0A2 (F814Y)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 1462973	NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His)	ATP6V0A2 (R776H)	Single nucleotide variant (missense variant)	not provided +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 1327202	NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)	ATP6V0A2 (E332K)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy +3 more	GUncertain significance
Select item 1309768	NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)	ATP6V0A2 (V295I)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +4 more	GUncertain significance
Select item 1303408	NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)	ATP6V0A2 (R141H)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +3 more	GUncertain significance
Select item 1192375	NM_012463.4(ATP6V0A2):c.649-114T>G	ATP6V0A2	Single nucleotide variant (intron variant)	Wrinkly skin syndrome +2 more	GBenign
Select item 1190639	NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)	ATP6V0A2 (I180T)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +4 more	GUncertain significance
Select item 1183408	NM_012463.4(ATP6V0A2):c.294+103T>C	ATP6V0A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1098631	NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys)	ATP6V0A2 (R678C)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 1034405	NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His)	ATP6V0A2 (R371H)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 996063	NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs)	ATP6V0A2 (L335fs)	Deletion (frameshift variant)	Cutis laxa with osteodystrophy	GPathogenic
Select item 996059	NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer)	ATP6V0A2	Deletion (nonsense)	Cutis laxa with osteodystrophy	GPathogenic
Select item 932514	NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met)	ATP6V0A2 (V556M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 884118	NM_012463.4(ATP6V0A2):c.*3707A>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 884117	NM_012463.4(ATP6V0A2):c.*3684C>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 884116	NM_012463.4(ATP6V0A2):c.*3654A>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 884056	NM_012463.4(ATP6V0A2):c.*2357C>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 884055	NM_012463.4(ATP6V0A2):c.*2329G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 884054	NM_012463.4(ATP6V0A2):c.*2090C>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 883989	NM_012463.4(ATP6V0A2):c.*742G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 883988	NM_012463.4(ATP6V0A2):c.*706T>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 883987	NM_012463.4(ATP6V0A2):c.*643C>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 883986	NM_012463.4(ATP6V0A2):c.*575G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 883908	NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 883835	NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu)	ATP6V0A2 (P147L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 883249	NM_012463.4(ATP6V0A2):c.*1950G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 883248	NM_012463.4(ATP6V0A2):c.*1837T>C	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 883247	NM_012463.4(ATP6V0A2):c.*1803C>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 883246	NM_012463.4(ATP6V0A2):c.*1731C>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 883192	NM_012463.4(ATP6V0A2):c.*63C>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 883191	NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu)	ATP6V0A2 (F849L)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy +1 more	GUncertain significance
Select item 883134	NM_012463.4(ATP6V0A2):c.1515-12T>G	ATP6V0A2	Single nucleotide variant (intron variant)	Cutis laxa with osteodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 883133	NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)	ATP6V0A2 (N477S)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy +3 more	GUncertain significance
Select item 883132	NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	Cutis laxa with osteodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 882410	NM_012463.4(ATP6V0A2):c.*3368T>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 882409	NM_012463.4(ATP6V0A2):c.*3357G>C	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 882408	NM_012463.4(ATP6V0A2):c.*3262G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 882159	NM_012463.4(ATP6V0A2):c.*3167G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 882158	NM_012463.4(ATP6V0A2):c.*2929C>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 882157	NM_012463.4(ATP6V0A2):c.*2876A>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 882106	NM_012463.4(ATP6V0A2):c.*1645G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 882105	NM_012463.4(ATP6V0A2):c.*1620T>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 882038	NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 882037	NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 881962	NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly)	ATP6V0A2 (A307G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 880767	NM_012463.4(ATP6V0A2):c.*2875A>C	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 880766	NM_012463.4(ATP6V0A2):c.*2782C>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 880765	NM_012463.4(ATP6V0A2):c.*2771A>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 880764	NM_012463.4(ATP6V0A2):c.*2759T>C	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 880763	NM_012463.4(ATP6V0A2):c.*2710G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 880762	NM_012463.4(ATP6V0A2):c.*2618A>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 880701	NM_012463.4(ATP6V0A2):c.*1122A>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 880700	NM_012463.4(ATP6V0A2):c.*1064G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 880625	NM_012463.4(ATP6V0A2):c.2176-5C>G	ATP6V0A2	Single nucleotide variant (intron variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 880546	NM_012463.4(ATP6V0A2):c.826-5C>T	ATP6V0A2	Single nucleotide variant (intron variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 880545	NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg)	ATP6V0A2 (G265R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 880544	NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly)	ATP6V0A2 (E264G)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy +1 more	GUncertain significance
Select item 880543	NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met)	ATP6V0A2 (I262M)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 880542	NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln)	ATP6V0A2 (R259Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 872301	NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)	ATP6V0A2 (D706N)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +3 more	GUncertain significance
Select item 813895	NM_012463.4(ATP6V0A2):c.2176-10TC[2]	ATP6V0A2	Microsatellite (intron variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 676667	NM_012463.4(ATP6V0A2):c.2294-4G>A	ATP6V0A2	Single nucleotide variant (intron variant)	Cutis laxa with osteodystrophy +2 more	GBenign/Likely benign
Select item 676662	NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	Cutis laxa with osteodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 593584	NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	Cutis laxa with osteodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 533136	NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)	ATP6V0A2 (R780H)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 512155	NM_012463.4(ATP6V0A2):c.1327-16G>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 499896	NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys)	ATP6V0A2 (R780C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498312	NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 451817	NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)	ATP6V0A2 (R340W)	Single nucleotide variant (missense variant)	not provided +4 more	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 391189	NM_012463.4(ATP6V0A2):c.1189+12G>T	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 390767	NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)	ATP6V0A2 (R141L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 386006	NM_012463.4(ATP6V0A2):c.1606-12G>A	ATP6V0A2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 307646	NM_012463.4(ATP6V0A2):c.*3665T>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 307645	NM_012463.4(ATP6V0A2):c.*3603G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy +1 more	GBenign
Select item 307644	NM_012463.4(ATP6V0A2):c.*3553G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy +1 more	GBenign
Select item 307643	NM_012463.4(ATP6V0A2):c.*3505A>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 307642	NM_012463.4(ATP6V0A2):c.*3425G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy +1 more	GBenign
Select item 307641	NM_012463.4(ATP6V0A2):c.*3269A>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 307640	NM_012463.4(ATP6V0A2):c.*3235A>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy +1 more	GBenign
Select item 307639	NM_012463.4(ATP6V0A2):c.*3227C>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307638	NM_012463.4(ATP6V0A2):c.*3166C>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 307637	NM_012463.4(ATP6V0A2):c.*3159G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 307636	NM_012463.4(ATP6V0A2):c.*3042T>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 307635	NM_012463.4(ATP6V0A2):c.*3000G>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 307633	NM_012463.4(ATP6V0A2):c.*2877T>A	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307632	NM_012463.4(ATP6V0A2):c.*2833A>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 307631	NM_012463.4(ATP6V0A2):c.*2646A>G	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign
Select item 307630	NM_012463.4(ATP6V0A2):c.*2485C>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GLikely benign
Select item 307629	NM_012463.4(ATP6V0A2):c.*2454T>C	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 307628	NM_012463.4(ATP6V0A2):c.*2353G>T	ATP6V0A2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with osteodystrophy	GBenign

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