15920[HGNC] - ClinVar

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Items: 37

	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 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 2531867	NM_007238.5(PXMP4):c.625C>G (p.Arg209Gly)	PXMP4 (R209G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219527	NM_007238.5(PXMP4):c.592G>A (p.Asp198Asn)	PXMP4 (D198N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605346	NM_007238.5(PXMP4):c.591C>A (p.His197Gln)	PXMP4 (H197Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465658	NM_007238.5(PXMP4):c.583G>A (p.Val195Ile)	PXMP4 (V195I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531415	NM_007238.5(PXMP4):c.563A>G (p.Tyr188Cys)	PXMP4 (Y188C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311842	NM_007238.5(PXMP4):c.499G>T (p.Val167Leu)	PXMP4 (V167L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363729	NM_007238.5(PXMP4):c.482C>T (p.Ala161Val)	PXMP4 (A161V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379324	NM_007238.5(PXMP4):c.451C>T (p.Pro151Ser)	PXMP4 (P151S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244055	NM_007238.5(PXMP4):c.326T>C (p.Phe109Ser)	PXMP4 (F109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373120	NM_007238.5(PXMP4):c.239G>A (p.Arg80Gln)	PXMP4 (R80Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150123	NM_007238.5(PXMP4):c.238C>T (p.Arg80Trp)	PXMP4 (R80W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2480494	NM_007238.5(PXMP4):c.214T>G (p.Tyr72Asp)	PXMP4 (Y72D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524934	NM_007238.5(PXMP4):c.193T>C (p.Trp65Arg)	PXMP4 (W65R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150122	NM_007238.5(PXMP4):c.186G>C (p.Glu62Asp)	PXMP4 (E62D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239194	NM_007238.5(PXMP4):c.184G>A (p.Glu62Lys)	PXMP4 (E62K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551547	NM_007238.5(PXMP4):c.167G>A (p.Arg56Gln)	PXMP4 (R56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150121	NM_007238.5(PXMP4):c.160C>T (p.Leu54Phe)	PXMP4 (L54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327693	NM_007238.5(PXMP4):c.143C>T (p.Ala48Val)	PXMP4 (A48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150125	NM_007238.5(PXMP4):c.88C>T (p.Leu30Phe)	PXMP4 (L30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150124	NM_007238.5(PXMP4):c.56G>C (p.Arg19Pro)	PXMP4 (R19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248297	NC_000020.10:g.(?_31571600)_(33001705_?)del	ACTL10, AHCY +22 more	Deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 816125	GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)x3	PIGU, E2F1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 584348	NC_000020.10:g.(?_31996293)_(33338342_?)del	CBFA2T2, CHMP4B +17 more	Deletion	Long QT syndrome	GUncertain significance
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	ACSS2, ACTL10 +25 more	Deletion	Long QT syndrome	GUncertain significance
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

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Items: 37