"GeneDx"[submitter] AND "ATP6V1A"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 1183335	NM_001690.4(ATP6V1A):c.-13-202C>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268535	NM_001690.4(ATP6V1A):c.-13-81A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2581859	NM_001690.4(ATP6V1A):c.56G>C (p.Gly19Ala)	ATP6V1A (G19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545526	NM_001690.4(ATP6V1A):c.80C>G (p.Pro27Arg)	ATP6V1A (P27R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1228236	NM_001690.4(ATP6V1A):c.83-164A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304578	NM_001690.4(ATP6V1A):c.258_265delinsGTTTATGCC (p.Ser87fs)	ATP6V1A (S87fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1277309	NM_001690.4(ATP6V1A):c.426+69A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698139	NM_001690.4(ATP6V1A):c.493A>G (p.Lys165Glu)	ATP6V1A (K165E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497853	NM_001690.4(ATP6V1A):c.548G>A (p.Gly183Glu)	ATP6V1A (G183E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222446	NM_001690.4(ATP6V1A):c.565-161del	ATP6V1A	Deletion (intron variant)	not provided	GBenign
Select item 3364661	NM_001690.4(ATP6V1A):c.593G>T (p.Gly198Val)	ATP6V1A (G198V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582174	NM_001690.4(ATP6V1A):c.594del (p.Gly198_Val199insTer)	ATP6V1A	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1308093	NM_001690.4(ATP6V1A):c.613A>G (p.Met205Val)	ATP6V1A (M205V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803505	NM_001690.4(ATP6V1A):c.634C>T (p.Arg212Cys)	ATP6V1A (R212C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2504525	NM_001690.4(ATP6V1A):c.656A>C (p.Glu219Ala)	ATP6V1A (E219A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370582	NM_001690.4(ATP6V1A):c.695_716+40del	ATP6V1A	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3376059	NM_001690.4(ATP6V1A):c.734C>A (p.Thr245Asn)	ATP6V1A (T245N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369870	NM_001690.4(ATP6V1A):c.845A>G (p.Asn282Ser)	ATP6V1A (N282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237605	NM_001690.4(ATP6V1A):c.879+27C>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271193	NM_001690.4(ATP6V1A):c.880-244T>C	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283544	NM_001690.4(ATP6V1A):c.880-69dup	ATP6V1A	Duplication (intron variant)	not provided	GBenign
Select item 1229952	NM_001690.4(ATP6V1A):c.880-16T>C	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1802126	NM_001690.4(ATP6V1A):c.954G>A (p.Met318Ile)	ATP6V1A (M318I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1278420	NM_001690.4(ATP6V1A):c.988+201C>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307941	NM_001690.4(ATP6V1A):c.1075A>G (p.Arg359Gly)	ATP6V1A (R359G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365685	NM_001690.4(ATP6V1A):c.1113T>G (p.Asp371Glu)	ATP6V1A (D371E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223018	NM_001690.4(ATP6V1A):c.1227-210A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252542	NM_001690.4(ATP6V1A):c.1227-37del	ATP6V1A	Deletion (intron variant)	not provided	GBenign
Select item 2444775	NM_001690.4(ATP6V1A):c.1270G>A (p.Ala424Thr)	ATP6V1A (A424T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310961	NM_001690.4(ATP6V1A):c.1379C>A (p.Ala460Asp)	ATP6V1A (A460D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257187	NM_001690.4(ATP6V1A):c.1589+20T>C	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371237	NM_001690.4(ATP6V1A):c.1611del (p.Thr537_Val538insTer)	ATP6V1A	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1708864	NM_001690.4(ATP6V1A):c.1651G>A (p.Ala551Thr)	ATP6V1A (A551T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662166	NM_001690.4(ATP6V1A):c.1745C>G (p.Ser582Cys)	ATP6V1A (S582C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365016	NM_001690.4(ATP6V1A):c.1777G>A (p.Gly593Ser)	ATP6V1A (G593S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246211	NM_001690.4(ATP6V1A):c.*4C>T	ATP6V1A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3361893	NM_001690.4(ATP6V1A):c.535A>G (p.Ile179Val)	ATP6V1A (I179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360621	NM_001690.4(ATP6V1A):c.536T>C (p.Ile179Thr)	ATP6V1A (I179T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359465	NM_001690.4(ATP6V1A):c.692A>G (p.Gln231Arg)	ATP6V1A (Q231R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 44