14671[HGNC] - ClinVar

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Items: 49

	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 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 3264693	NM_024855.4(ACTR5):c.31G>A (p.Ala11Thr)	ACTR5 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291626	NM_024855.4(ACTR5):c.38C>T (p.Ala13Val)	ACTR5 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142567	NM_024855.4(ACTR5):c.40G>A (p.Ala14Thr)	ACTR5 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354527	NM_024855.4(ACTR5):c.68C>T (p.Pro23Leu)	ACTR5 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375616	NM_024855.4(ACTR5):c.76C>T (p.His26Tyr)	ACTR5 (H26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142590	NM_024855.4(ACTR5):c.82C>T (p.Pro28Ser)	ACTR5 (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142592	NM_024855.4(ACTR5):c.89C>T (p.Pro30Leu)	ACTR5 (P30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242237	NM_024855.4(ACTR5):c.146C>G (p.Pro49Arg)	ACTR5 (P49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263537	NM_024855.4(ACTR5):c.166G>A (p.Glu56Lys)	ACTR5 (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240912	NM_024855.4(ACTR5):c.242G>A (p.Gly81Glu)	ACTR5 (G81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483145	NM_024855.4(ACTR5):c.257G>A (p.Ser86Asn)	ACTR5 (S86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619482	NM_024855.4(ACTR5):c.269T>A (p.Leu90Gln)	ACTR5 (L90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356840	NM_024855.4(ACTR5):c.467A>G (p.Tyr156Cys)	ACTR5 (Y156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264732	NM_024855.4(ACTR5):c.502C>T (p.Leu168Phe)	ACTR5 (L168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142574	NM_024855.4(ACTR5):c.505T>C (p.Phe169Leu)	ACTR5 (F169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142577	NM_024855.4(ACTR5):c.508A>G (p.Ser170Gly)	ACTR5 (S170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393914	NM_024855.4(ACTR5):c.509G>C (p.Ser170Thr)	ACTR5 (S170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264760	NM_024855.4(ACTR5):c.703G>A (p.Ala235Thr)	ACTR5 (A235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404770	NM_024855.4(ACTR5):c.709A>G (p.Ile237Val)	ACTR5 (I237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532765	NM_024855.4(ACTR5):c.725T>G (p.Met242Arg)	ACTR5 (M242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514905	NM_024855.4(ACTR5):c.757G>A (p.Ala253Thr)	ACTR5 (A253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215386	NM_024855.4(ACTR5):c.791G>A (p.Arg264Gln)	ACTR5 (R264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477882	NM_024855.4(ACTR5):c.822C>G (p.His274Gln)	ACTR5 (H274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602231	NM_024855.4(ACTR5):c.883C>G (p.Gln295Glu)	ACTR5 (Q295E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264700	NM_024855.4(ACTR5):c.890G>A (p.Arg297Lys)	ACTR5 (R297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301994	NM_024855.4(ACTR5):c.901C>G (p.Gln301Glu)	ACTR5 (Q301E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222858	NM_024855.4(ACTR5):c.910C>T (p.Arg304Trp)	ACTR5 (R304W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411425	NM_024855.4(ACTR5):c.935G>A (p.Arg312Gln)	ACTR5 (R312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142594	NM_024855.4(ACTR5):c.967C>T (p.Arg323Cys)	ACTR5 (R323C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142518	NM_024855.4(ACTR5):c.1061C>T (p.Pro354Leu)	ACTR5 (P354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264712	NM_024855.4(ACTR5):c.1122A>T (p.Lys374Asn)	ACTR5 (K374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464844	NM_024855.4(ACTR5):c.1245G>C (p.Leu415Phe)	ACTR5 (L415F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615718	NM_024855.4(ACTR5):c.1276C>T (p.Pro426Ser)	ACTR5 (P426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264722	NM_024855.4(ACTR5):c.1349G>A (p.Arg450Gln)	ACTR5 (R450Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264742	NM_024855.4(ACTR5):c.1412C>T (p.Thr471Ile)	ACTR5 (T471I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303094	NM_024855.4(ACTR5):c.1487G>A (p.Gly496Asp)	ACTR5 (G496D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326396	NM_024855.4(ACTR5):c.1594G>A (p.Asp532Asn)	ACTR5 (D532N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142540	NM_024855.4(ACTR5):c.1613G>A (p.Arg538His)	ACTR5 (R538H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314212	NM_024855.4(ACTR5):c.1642A>G (p.Asn548Asp)	ACTR5 (N548D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283123	NM_024855.4(ACTR5):c.1784G>A (p.Gly595Asp)	ACTR5 (G595D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264750	NM_024855.4(ACTR5):c.1805G>A (p.Gly602Asp)	ACTR5 (G602D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248361	NC_000020.10:g.(?_37060620)_(37581163_?)dup	ACTR5, ADIG +6 more	Duplication	not provided	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 564625	GRCh37/hg19 20q11.23-12(chr20:37327665-37675011)x3	SLC32A1, FAM83D +3 more	Copy number gain	not provided	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: 49