13540[HGNC] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 148190	GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1	ADNP, ADNP-AS1 +63 more	Copy number loss	See cases	GPathogenic
Select item 2496401	NM_006045.3(ATP9A):c.3083A>G (p.Tyr1028Cys)	ATP9A (Y1028C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609062	NM_006045.3(ATP9A):c.3026C>T (p.Thr1009Ile)	ATP9A (T1009I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770302	NM_006045.3(ATP9A):c.2976C>T (p.Ile992=)	ATP9A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2269155	NM_006045.3(ATP9A):c.2843C>T (p.Ser948Leu)	ATP9A (S948L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785657	NM_006045.3(ATP9A):c.2646A>T (p.Thr882=)	ATP9A, LOC126863053	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3132059	NM_006045.3(ATP9A):c.2497C>T (p.Arg833Trp)	ATP9A (R833W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238922	NM_006045.3(ATP9A):c.2276G>A (p.Arg759Gln)	ATP9A (R759Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220026	NM_006045.3(ATP9A):c.2158C>T (p.Arg720Cys)	ATP9A (R720C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068126	NM_006045.3(ATP9A):c.2111G>A (p.Arg704Gln)	ATP9A (R704Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GUncertain significance
Select item 2407087	NM_006045.3(ATP9A):c.1985C>T (p.Thr662Met)	ATP9A (T662M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463444	NM_006045.3(ATP9A):c.1798G>A (p.Val600Met)	ATP9A (V600M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286006	NM_006045.3(ATP9A):c.1790G>A (p.Arg597Gln)	ATP9A (R597Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370491	NM_006045.3(ATP9A):c.1691C>T (p.Thr564Met)	ATP9A (T564M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132057	NM_006045.3(ATP9A):c.1663G>C (p.Val555Leu)	ATP9A, LOC121853013 (V555L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527447	NM_006045.3(ATP9A):c.1570A>G (p.Met524Val)	ATP9A, LOC121853013 (M524V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330172	NM_006045.3(ATP9A):c.1460A>G (p.Gln487Arg)	ATP9A (Q487R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784411	NM_006045.3(ATP9A):c.1452C>T (p.Ala484=)	ATP9A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3132056	NM_006045.3(ATP9A):c.1391C>T (p.Ala464Val)	ATP9A (A464V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132055	NM_006045.3(ATP9A):c.1325C>T (p.Pro442Leu)	ATP9A (P442L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265641	NM_006045.3(ATP9A):c.1313C>T (p.Ala438Val)	ATP9A (A438V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618838	NM_006045.3(ATP9A):c.1294C>G (p.Gln432Glu)	ATP9A (Q432E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690551	NM_006045.3(ATP9A):c.1164dup (p.Leu389fs)	ATP9A (L389fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GLikely pathogenic
Select item 3026085	NM_006045.3(ATP9A):c.1158G>A (p.Ser386=)	ATP9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383841	NM_006045.3(ATP9A):c.1108G>A (p.Gly370Arg)	ATP9A (G370R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443776	NM_006045.3(ATP9A):c.983G>A (p.Trp328Ter)	ATP9A (W328*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GPathogenic
Select item 3132064	NM_006045.3(ATP9A):c.979C>T (p.Arg327Cys)	ATP9A (R327C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064833	NM_006045.3(ATP9A):c.876+6T>G	ATP9A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GUncertain significance
Select item 1706531	NM_006045.3(ATP9A):c.868C>T (p.Arg290Ter)	ATP9A (R290*)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 3132063	NM_006045.3(ATP9A):c.865C>A (p.Pro289Thr)	ATP9A (P289T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269786	NM_006045.3(ATP9A):c.841C>T (p.Arg281Trp)	ATP9A (R281W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2626989	NM_006045.3(ATP9A):c.800-5T>C	ATP9A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1284891	NM_006045.3(ATP9A):c.799+1G>T	ATP9A	Single nucleotide variant (splice donor variant)	See cases	GPathogenic
Select item 2652409	NM_006045.3(ATP9A):c.705C>T (p.Phe235=)	ATP9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385307	NM_006045.3(ATP9A):c.659G>A (p.Arg220Gln)	ATP9A (R220Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443775	NM_006045.3(ATP9A):c.658C>T (p.Arg220Ter)	ATP9A (R220*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GPathogenic
Select item 2410157	NM_006045.3(ATP9A):c.646C>T (p.Leu216Phe)	ATP9A (L216F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443772	NM_006045.3(ATP9A):c.642+1G>A	ATP9A	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GPathogenic
Select item 777584	NM_006045.3(ATP9A):c.630C>T (p.Leu210=)	ATP9A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3132062	NM_006045.3(ATP9A):c.589G>A (p.Asp197Asn)	ATP9A (D197N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2626988	NM_006045.3(ATP9A):c.503G>C (p.Arg168Pro)	ATP9A (R168P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558825	NM_006045.3(ATP9A):c.468A>C (p.Gln156His)	ATP9A (Q156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652410	NM_006045.3(ATP9A):c.465C>A (p.Ile155=)	ATP9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443774	NM_006045.3(ATP9A):c.433C>T (p.Arg145Ter)	ATP9A (R145*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GPathogenic
Select item 3132061	NM_006045.3(ATP9A):c.409C>G (p.Gln137Glu)	ATP9A (Q137E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404573	NM_006045.3(ATP9A):c.385G>A (p.Val129Met)	ATP9A (V129M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1284890	NM_006045.3(ATP9A):c.327+1G>T	ATP9A	Single nucleotide variant (splice donor variant)	See cases	GPathogenic
Select item 2334599	NM_006045.3(ATP9A):c.286G>A (p.Glu96Lys)	ATP9A (E96K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132060	NM_006045.3(ATP9A):c.251A>G (p.Tyr84Cys)	ATP9A (Y84C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405153	NM_006045.3(ATP9A):c.163C>T (p.Arg55Trp)	ATP9A (R55W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510716	NM_006045.3(ATP9A):c.155G>A (p.Arg52Lys)	ATP9A (R52K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132054	NM_006045.3(ATP9A):c.112C>T (p.Pro38Ser)	ATP9A (P38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774966	NM_006045.3(ATP9A):c.95G>T (p.Gly32Val)	ATP9A (G32V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3327	NC_000020.11:g.(51758515_51770114)_(51894383_?)del	ATP9A, LINC01429 +2 more	Deletion	Duane-radial ray syndrome	GPathogenic
Select item 3062401	GRCh37/hg19 20q13.13-13.2(chr20:49718564-51223195)x3	ATP9A, NFATC2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 688422	GRCh37/hg19 20q13.2(chr20:50018612-50381792)x3	ATP9A, NFATC2	Copy number gain	not provided	GUncertain significance
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 441649	GRCh37/hg19 20q13.2(chr20:50327635-52375128)x3	ATP9A, SALL4 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 66