29153[HGNC] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2280283	NM_014952.5(BAHD1):c.83G>A (p.Ser28Asn)	BAHD1 (S28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325954	NM_014952.5(BAHD1):c.100G>A (p.Val34Ile)	BAHD1 (V34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260295	NM_014952.5(BAHD1):c.152G>A (p.Arg51His)	BAHD1 (R51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593059	NM_014952.5(BAHD1):c.155G>A (p.Arg52His)	BAHD1 (R52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459556	NM_014952.5(BAHD1):c.324C>A (p.Asp108Glu)	BAHD1 (D108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334083	NM_014952.5(BAHD1):c.368A>G (p.Asn123Ser)	BAHD1 (N123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132852	NM_014952.5(BAHD1):c.430C>T (p.Arg144Cys)	BAHD1 (R144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389585	NM_014952.5(BAHD1):c.431G>A (p.Arg144His)	BAHD1 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236065	NM_014952.5(BAHD1):c.457C>T (p.Arg153Cys)	BAHD1 (R153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275154	NM_014952.5(BAHD1):c.461G>A (p.Ser154Asn)	BAHD1 (S154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568599	NM_014952.5(BAHD1):c.464G>A (p.Arg155His)	BAHD1 (R155H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409681	NM_014952.5(BAHD1):c.467A>T (p.Asp156Val)	BAHD1 (D156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260289	NM_014952.5(BAHD1):c.509G>A (p.Arg170Gln)	BAHD1 (R170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373997	NM_014952.5(BAHD1):c.515G>A (p.Arg172Gln)	BAHD1 (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209199	NM_014952.5(BAHD1):c.541C>T (p.Arg181Trp)	BAHD1 (R181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230296	NM_014952.5(BAHD1):c.542G>A (p.Arg181Gln)	BAHD1 (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391204	NM_014952.5(BAHD1):c.578C>T (p.Pro193Leu)	BAHD1 (P193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340944	NM_014952.5(BAHD1):c.584G>A (p.Arg195Gln)	BAHD1 (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260286	NM_014952.5(BAHD1):c.655C>T (p.Arg219Trp)	BAHD1 (R219W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289573	NM_014952.5(BAHD1):c.680G>A (p.Arg227His)	BAHD1 (R227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260294	NM_014952.5(BAHD1):c.686A>G (p.His229Arg)	BAHD1 (H229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132853	NM_014952.5(BAHD1):c.718C>G (p.Pro240Ala)	BAHD1 (P240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355051	NM_014952.5(BAHD1):c.740C>G (p.Pro247Arg)	BAHD1 (P247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132854	NM_014952.5(BAHD1):c.863C>A (p.Pro288His)	BAHD1 (P288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1231388	NM_014952.5(BAHD1):c.892C>A (p.Gln298Lys)	BAHD1 (Q298K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3132855	NM_014952.5(BAHD1):c.914A>G (p.Glu305Gly)	BAHD1 (E305G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375216	NM_014952.5(BAHD1):c.931C>T (p.Arg311Cys)	BAHD1 (R311C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508579	NM_014952.5(BAHD1):c.982C>T (p.Pro328Ser)	BAHD1 (P328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132841	NM_014952.5(BAHD1):c.1061C>T (p.Pro354Leu)	BAHD1 (P354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260288	NM_014952.5(BAHD1):c.1067C>T (p.Pro356Leu)	BAHD1 (P356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260292	NM_014952.5(BAHD1):c.1138T>C (p.Tyr380His)	BAHD1 (Y380H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132842	NM_014952.5(BAHD1):c.1192A>G (p.Met398Val)	BAHD1 (M398V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132844	NM_014952.5(BAHD1):c.1225G>A (p.Ala409Thr)	BAHD1 (A409T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132845	NM_014952.5(BAHD1):c.1226C>T (p.Ala409Val)	BAHD1 (A409V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260291	NM_014952.5(BAHD1):c.1252G>C (p.Ala418Pro)	BAHD1 (A418P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270294	NM_014952.5(BAHD1):c.1291C>A (p.Pro431Thr)	BAHD1 (P431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522283	NM_014952.5(BAHD1):c.1324G>A (p.Glu442Lys)	BAHD1 (E442K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132846	NM_014952.5(BAHD1):c.1328A>G (p.Asp443Gly)	BAHD1 (D443G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566895	NM_014952.5(BAHD1):c.1357G>A (p.Gly453Arg)	BAHD1 (G453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366482	NM_014952.5(BAHD1):c.1402G>A (p.Gly468Ser)	BAHD1 (G468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569009	NM_014952.5(BAHD1):c.1498G>C (p.Ala500Pro)	BAHD1 (A499P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233947	NM_014952.5(BAHD1):c.1504C>G (p.Pro502Ala)	BAHD1 (P501A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569264	NM_014952.5(BAHD1):c.1508T>A (p.Leu503His)	BAHD1 (L502H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569265	NM_014952.5(BAHD1):c.1511T>A (p.Leu504Gln)	BAHD1 (L504Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289347	NM_014952.5(BAHD1):c.1552G>A (p.Val518Ile)	BAHD1 (V518I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322751	NM_014952.5(BAHD1):c.1567A>G (p.Thr523Ala)	BAHD1 (T522A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220325	NM_014952.5(BAHD1):c.1577C>T (p.Ser526Leu)	BAHD1 (S525L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260287	NM_014952.5(BAHD1):c.1594G>A (p.Ala532Thr)	BAHD1 (A531T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286972	NM_014952.5(BAHD1):c.1594G>C (p.Ala532Pro)	BAHD1 (A532P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554942	NM_014952.5(BAHD1):c.1598G>A (p.Arg533His)	BAHD1 (R533H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132847	NM_014952.5(BAHD1):c.1601C>G (p.Ala534Gly)	BAHD1 (A533G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223990	NM_014952.5(BAHD1):c.1664G>C (p.Cys555Ser)	BAHD1 (C554S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600551	NM_014952.5(BAHD1):c.1672A>G (p.Thr558Ala)	BAHD1 (T558A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132848	NM_014952.5(BAHD1):c.1682G>C (p.Ser561Thr)	BAHD1 (S561T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132849	NM_014952.5(BAHD1):c.1711A>C (p.Lys571Gln)	BAHD1 (K570Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467924	NM_014952.5(BAHD1):c.1730G>A (p.Arg577His)	BAHD1 (R576H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260290	NM_014952.5(BAHD1):c.1736G>A (p.Arg579His)	BAHD1 (R578H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406125	NM_014952.5(BAHD1):c.1747C>T (p.Arg583Cys)	BAHD1 (R582C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268102	NM_014952.5(BAHD1):c.1750C>T (p.Arg584Cys)	BAHD1 (R583C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207651	NM_014952.5(BAHD1):c.1757G>A (p.Arg586His)	BAHD1 (R585H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607999	NM_014952.5(BAHD1):c.1844G>A (p.Ser615Asn)	BAHD1 (S614N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316666	NM_014952.5(BAHD1):c.2024A>C (p.Gln675Pro)	BAHD1 (Q674P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529728	NM_014952.5(BAHD1):c.2118G>T (p.Glu706Asp)	BAHD1 (E703D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486530	NM_014952.5(BAHD1):c.2257C>G (p.Pro753Ala)	BAHD1 (P752A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132851	NM_014952.5(BAHD1):c.2298T>A (p.His766Gln)	BAHD1 (H766Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980032	GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4	DISP2, C15orf62 +23 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	GPathogenic
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

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Items: 75