3245[HGNC] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 57437	GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3	EHD4, EHD4-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 157345	NM_139265.3(EHD4):c.803_33733dup	EHD4, LOC105370792 +2 more	Duplication	Preeclampsia	Gnot provided
Select item 3087784	NM_139265.4(EHD4):c.1543C>T (p.Leu515Phe)	EHD4 (L515F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324567	NM_139265.4(EHD4):c.1534A>G (p.Lys512Glu)	EHD4 (K512E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270067	NM_139265.4(EHD4):c.1442A>G (p.Asn481Ser)	EHD4 (N481S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087783	NM_139265.4(EHD4):c.1412A>G (p.Lys471Arg)	EHD4 (K471R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087782	NM_139265.4(EHD4):c.1407C>G (p.Asn469Lys)	EHD4 (N469K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274895	NM_139265.4(EHD4):c.1384A>G (p.Asn462Asp)	EHD4 (N462D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274896	NM_139265.4(EHD4):c.1376C>G (p.Ser459Trp)	EHD4 (S459W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481116	NM_139265.4(EHD4):c.1360C>G (p.Leu454Val)	EHD4 (L454V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087781	NM_139265.4(EHD4):c.1330G>A (p.Val444Met)	EHD4 (V444M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265596	NM_139265.4(EHD4):c.1330G>T (p.Val444Leu)	EHD4 (V444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274894	NM_139265.4(EHD4):c.1309G>A (p.Ala437Thr)	EHD4 (A437T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087780	NM_139265.4(EHD4):c.1264G>A (p.Glu422Lys)	EHD4 (E422K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087779	NM_139265.4(EHD4):c.1220C>T (p.Thr407Met)	EHD4 (T407M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359222	NM_139265.4(EHD4):c.1214C>T (p.Thr405Met)	EHD4 (T405M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407646	NM_139265.4(EHD4):c.1068C>A (p.Phe356Leu)	EHD4 (F356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488802	NM_139265.4(EHD4):c.857A>G (p.Gln286Arg)	EHD4 (Q286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492842	NM_139265.4(EHD4):c.826G>A (p.Ala276Thr)	EHD4 (A276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087789	NM_139265.4(EHD4):c.814C>T (p.Arg272Trp)	EHD4 (R272W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315767	NM_139265.4(EHD4):c.761G>A (p.Arg254His)	EHD4 (R254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274892	NM_139265.4(EHD4):c.748C>A (p.Pro250Thr)	EHD4 (P250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559358	NM_139265.4(EHD4):c.707A>G (p.Tyr236Cys)	EHD4 (Y236C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087787	NM_139265.4(EHD4):c.658G>A (p.Val220Met)	EHD4 (V220M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460934	NM_139265.4(EHD4):c.643G>A (p.Asp215Asn)	EHD4 (D215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087786	NM_139265.4(EHD4):c.631C>T (p.Arg211Trp)	EHD4 (R211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245789	NM_139265.4(EHD4):c.611C>T (p.Ser204Leu)	EHD4 (S204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488507	NM_139265.4(EHD4):c.581C>G (p.Ala194Gly)	EHD4 (A194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335274	NM_139265.4(EHD4):c.518A>G (p.Asp173Gly)	EHD4 (D173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362010	NM_139265.4(EHD4):c.437A>G (p.Asn146Ser)	EHD4 (N146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333359	NM_139265.4(EHD4):c.419T>C (p.Met140Thr)	EHD4 (M140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274891	NM_139265.4(EHD4):c.403T>C (p.Phe135Leu)	EHD4 (F135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620220	NM_139265.4(EHD4):c.385A>G (p.Ser129Gly)	EHD4 (S129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248893	NM_139265.4(EHD4):c.188T>G (p.Met63Arg)	EHD4 (M63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087785	NM_139265.4(EHD4):c.187A>G (p.Met63Val)	EHD4 (M63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339876	NM_139265.4(EHD4):c.127T>G (p.Tyr43Asp)	EHD4 (Y43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274893	NM_139265.4(EHD4):c.91C>T (p.Leu31Phe)	EHD4, LOC130056913 (L31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087788	NM_139265.4(EHD4):c.76G>T (p.Gly26Cys)	EHD4, LOC130056913 (G26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404719	NM_139265.4(EHD4):c.49G>T (p.Gly17Cys)	EHD4 (G17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454475	NM_139265.4(EHD4):c.20G>A (p.Arg7Gln)	EHD4 (R7Q)	Single nucleotide variant (missense variant)	not specified	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 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	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 980031	GRCh37/hg19 15q15.1(chr15:41869275-42484890)x3	MGA, PLA2G4F +9 more	Copy number gain	not provided	GLikely benign
Select item 564195	GRCh37/hg19 15q15.1(chr15:42079854-42426833)x3	SPTBN5, PLA2G4E +5 more	Copy number gain	not provided	GUncertain significance
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 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	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

ClinVar

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Items: 52