"GeneDx"[submitter] AND "ATP6AP1"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 60420	GRCh38/hg38 Xq28(chrX:154336596-154642063)x2	ATP6AP1, ATP6AP1-DT +58 more	Copy number gain	See cases	GUncertain significance
Select item 60422	GRCh38/hg38 Xq28(chrX:154394598-154626056)x2	ATP6AP1, ATP6AP1-DT +42 more	Copy number gain	See cases	GUncertain significance
Select item 58018	GRCh38/hg38 Xq28(chrX:154394598-154554969)x1	ATP6AP1, ATP6AP1-DT +37 more	Copy number loss	See cases	GPathogenic
Select item 1229930	NC_000023.11:g.154428498T>G	ATP6AP1	Single nucleotide variant	not provided	GBenign
Select item 3377868	NM_001183.6(ATP6AP1):c.1A>C (p.Met1Leu)	ATP6AP1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304733	NM_001183.6(ATP6AP1):c.25C>T (p.Arg9Ter)	ATP6AP1 (R9*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3252310	NM_001183.6(ATP6AP1):c.35T>G (p.Met12Arg)	ATP6AP1 (M12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165872	NM_001183.6(ATP6AP1):c.96GGC[9] (p.Ala40_Ala41dup)	ATP6AP1	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 1165873	NM_001183.6(ATP6AP1):c.226A>G (p.Thr76Ala)	ATP6AP1 (T76A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1675255	NM_001183.6(ATP6AP1):c.245T>C (p.Leu82Pro)	ATP6AP1 (L82P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305964	NM_001183.6(ATP6AP1):c.288+5G>A	ATP6AP1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1191622	NM_001183.6(ATP6AP1):c.288+68C>G	ATP6AP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252891	NM_001183.6(ATP6AP1):c.288+240A>G	ATP6AP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281317	NM_001183.6(ATP6AP1):c.289-282G>A	ATP6AP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683341	NM_001183.6(ATP6AP1):c.289-135=	ATP6AP1	Single nucleotide variant (intron variant)	Immunodeficiency 47 +1 more	GBenign
Select item 1273454	NM_001183.6(ATP6AP1):c.289-106T>C	ATP6AP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213096	NM_001183.6(ATP6AP1):c.328G>A (p.Gly110Arg)	ATP6AP1 (G110R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311985	NM_001183.6(ATP6AP1):c.379G>C (p.Ala127Pro)	ATP6AP1 (A127P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308446	NM_001183.6(ATP6AP1):c.473A>G (p.His158Arg)	ATP6AP1 (H158R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301498	NM_001183.6(ATP6AP1):c.509A>T (p.Asn170Ile)	ATP6AP1 (N170I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871058	NM_001183.6(ATP6AP1):c.538C>T (p.Arg180Cys)	ATP6AP1 (R180C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310261	NM_001183.6(ATP6AP1):c.558-1G>T	ATP6AP1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3376052	NM_001183.6(ATP6AP1):c.575C>A (p.Pro192His)	ATP6AP1 (P192H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803363	NM_001183.6(ATP6AP1):c.604G>T (p.Val202Phe)	ATP6AP1 (V202F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391565	NM_001183.6(ATP6AP1):c.831G>T (p.Ala277=)	ATP6AP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1236110	NM_001183.6(ATP6AP1):c.923+332T>C	ATP6AP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251848	NM_001183.6(ATP6AP1):c.924-113G>A	ATP6AP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257912	NM_001183.6(ATP6AP1):c.924-27A>G	ATP6AP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 236242	NM_001183.6(ATP6AP1):c.938A>G (p.Tyr313Cys)	ATP6AP1 (Y313C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1254051	NM_001183.6(ATP6AP1):c.953_963delinsACATTCAAGTGACAGGACTC (p.Gly318_Val321delinsAspIleGlnValThrGlyLeu)	ATP6AP1	Indel (inframe_indel)	not provided	GLikely pathogenic
Select item 236241	NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys)	ATP6AP1 (E346K)	Single nucleotide variant (missense variant)	Immunodeficiency 47 +1 more	GPathogenic/Likely pathogenic
Select item 3364862	NM_001183.6(ATP6AP1):c.1049A>G (p.Asn350Ser)	ATP6AP1 (N350S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504018	NM_001183.6(ATP6AP1):c.1113C>T (p.Cys371=)	ATP6AP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1806757	NM_001183.6(ATP6AP1):c.1249G>A (p.Asp417Asn)	ATP6AP1 (D417N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220277	NM_001183.6(ATP6AP1):c.*95A>G	ATP6AP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1277135	NM_001183.6(ATP6AP1):c.*261A>G	ATP6AP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253514	GRCh37/hg19 Xq28(chrX:153627408-154089925)x2	CTAG1A, MPP1 +19 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3360385	NM_001183.6(ATP6AP1):c.691C>T (p.Arg231Cys)	ATP6AP1 (R231C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 58