ClinVar for Gene (Select 51495) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283402	NM_016395.4(HACD3):c.386A>G (p.Asn129Ser)	HACD3 (N129S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283401	NM_016395.4(HACD3):c.281C>T (p.Thr94Ile)	HACD3 (T94I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3283400	NM_016395.4(HACD3):c.326G>A (p.Arg109His)	HACD3 (R109H)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +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	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32