ATP6V1H[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +173 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	LINC00588, LINC00968 +226 more	Copy number loss	See cases	GPathogenic
Select item 2557919	NM_015941.4(ATP6V1H):c.1445G>A (p.Arg482Gln)	ATP6V1H (R482Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131937	NM_015941.4(ATP6V1H):c.1435G>A (p.Ala479Thr)	ATP6V1H (A479T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539497	NM_015941.4(ATP6V1H):c.1435G>T (p.Ala479Ser)	ATP6V1H (A461S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275818	NM_015941.4(ATP6V1H):c.1387A>G (p.Asn463Asp)	ATP6V1H (N463D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485649	NM_015941.4(ATP6V1H):c.1351A>G (p.Asn451Asp)	ATP6V1H (N433D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244190	NM_015941.4(ATP6V1H):c.1340A>G (p.Gln447Arg)	ATP6V1H (Q447R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557082	NM_015941.4(ATP6V1H):c.1294G>A (p.Gly432Ser)	ATP6V1H (G414S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312874	NM_015941.4(ATP6V1H):c.1222G>T (p.Ala408Ser)	ATP6V1H (A390S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206346	NM_015941.4(ATP6V1H):c.1159A>T (p.Asn387Tyr)	ATP6V1H (N369Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2587986	NM_015941.4(ATP6V1H):c.1050T>C (p.Ser350=)	ATP6V1H	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3131942	NM_015941.4(ATP6V1H):c.925A>G (p.Met309Val)	ATP6V1H (M291V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146043	GRCh38/hg38 8q11.23(chr8:53790469-54207499)x3	ATP6V1H, LOC111811969 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2526649	NM_015941.4(ATP6V1H):c.869G>A (p.Arg290His)	ATP6V1H (R272H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560995	NM_015941.4(ATP6V1H):c.784C>T (p.Arg262Cys)	ATP6V1H (R262C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340656	NM_015941.4(ATP6V1H):c.635A>G (p.Asn212Ser)	ATP6V1H (N212S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484554	NM_015941.4(ATP6V1H):c.540C>G (p.Ser180Arg)	ATP6V1H (S180R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379173	NM_015941.4(ATP6V1H):c.458A>G (p.Lys153Arg)	ATP6V1H (K153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538169	NM_015941.4(ATP6V1H):c.448G>A (p.Ala150Thr)	ATP6V1H (A150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467764	NM_015941.4(ATP6V1H):c.341A>G (p.Tyr114Cys)	ATP6V1H (Y114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241246	NM_015941.4(ATP6V1H):c.337G>C (p.Asp113His)	ATP6V1H (D113H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276128	NM_015941.4(ATP6V1H):c.176C>T (p.Pro59Leu)	ATP6V1H (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131939	NM_015941.4(ATP6V1H):c.79C>G (p.Arg27Gly)	ATP6V1H (R27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456781	NM_015941.4(ATP6V1H):c.43C>G (p.Pro15Ala)	ATP6V1H (P15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218438	NM_015941.4(ATP6V1H):c.20G>A (p.Arg7Gln)	ATP6V1H (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1339984	GRCh37/hg19 8q11.23(chr8:54475345-54756939)x3	ATP6V1H	Copy number gain	not provided	GUncertain significance
Select item 979232	GRCh37/hg19 8q11.23(chr8:52605905-54913501)x3	ALKAL1, ATP6V1H +8 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	ADAM18, ADAM2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	ALKAL1, ATP6V1H +20 more	Copy number gain	not provided	GUncertain significance
Select item 563431	GRCh37/hg19 8q11.23(chr8:54606702-54692283)x1	ATP6V1H	Copy number loss	not provided	GLikely benign
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ALKAL1, ANK1 +133 more	Copy number gain	See cases	GUncertain significance
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ATP6V1H, NPBWR1 +36 more	Copy number gain	See cases	GPathogenic

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Items: 51