HACD3[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 2373260	NM_016395.4(HACD3):c.215A>G (p.Lys72Arg)	HACD3 (K72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331289	NM_016395.4(HACD3):c.354G>A (p.Met118Ile)	HACD3 (M118I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104098	NM_016395.4(HACD3):c.380G>A (p.Arg127His)	HACD3 (R127H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475569	NM_016395.4(HACD3):c.410G>T (p.Gly137Val)	HACD3 (G137V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481996	NM_016395.4(HACD3):c.489G>C (p.Trp163Cys)	HACD3 (W163C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104099	NM_016395.4(HACD3):c.605C>T (p.Thr202Ile)	HACD3 (T202I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104100	NM_016395.4(HACD3):c.716A>G (p.Gln239Arg)	HACD3 (Q239R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463746	NM_016395.4(HACD3):c.730G>T (p.Val244Phe)	HACD3 (V244F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624411	NM_016395.4(HACD3):c.751T>C (p.Trp251Arg)	HACD3 (W251R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104101	NM_016395.4(HACD3):c.887C>T (p.Ser296Leu)	HACD3 (S179L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620325	NM_016395.4(HACD3):c.901A>C (p.Ile301Leu)	HACD3 (I184L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590990	NM_016395.4(HACD3):c.914A>G (p.Asn305Ser)	HACD3 (N188S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297275	NM_016395.4(HACD3):c.998T>C (p.Ile333Thr)	HACD3 (I216T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104095	NM_016395.4(HACD3):c.1001T>A (p.Met334Lys)	HACD3 (M217K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104096	NM_016395.4(HACD3):c.1030C>T (p.Arg344Cys)	HACD3 (R227C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292067	NM_016395.4(HACD3):c.1040A>G (p.Tyr347Cys)	HACD3 (Y230C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251576	NM_016395.4(HACD3):c.1052G>A (p.Arg351Lys)	HACD3 (R351K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300735	NM_016395.4(HACD3):c.1055G>A (p.Arg352Gln)	HACD3 (R352Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 29