34527[HGNC] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 2514167	NM_001007540.4(CDHR4):c.2317G>A (p.Gly773Arg)	CDHR4 (G773R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409122	NM_001007540.4(CDHR4):c.2305G>A (p.Asp769Asn)	CDHR4 (D769N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213623	NM_001007540.4(CDHR4):c.2282T>C (p.Leu761Pro)	CDHR4 (L761P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384459	NM_001007540.4(CDHR4):c.2277G>A (p.Met759Ile)	CDHR4 (M759I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530758	NM_001007540.4(CDHR4):c.2239C>T (p.Pro747Ser)	CDHR4 (P747S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223501	NM_001007540.4(CDHR4):c.2221G>A (p.Glu741Lys)	CDHR4 (E741K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523376	NM_001007540.4(CDHR4):c.2196C>G (p.Ser732Arg)	CDHR4 (S732R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370880	NM_001007540.4(CDHR4):c.2180C>T (p.Ala727Val)	CDHR4 (A727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141399	NM_001007540.4(CDHR4):c.2148G>C (p.Gln716His)	CDHR4 (Q716H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265377	NM_001007540.4(CDHR4):c.1907C>T (p.Thr636Ile)	CDHR4 (T636I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210403	NM_001007540.4(CDHR4):c.1891G>A (p.Asp631Asn)	CDHR4 (D631N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389201	NM_001007540.4(CDHR4):c.1801C>G (p.Gln601Glu)	CDHR4 (Q601E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265378	NM_001007540.4(CDHR4):c.1790G>A (p.Arg597Gln)	CDHR4 (R597Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141398	NM_001007540.4(CDHR4):c.1768G>C (p.Val590Leu)	CDHR4 (V590L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600876	NM_001007540.4(CDHR4):c.1742A>G (p.Gln581Arg)	CDHR4 (Q581R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481937	NM_001007540.4(CDHR4):c.1694G>A (p.Arg565His)	CDHR4 (R565H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278239	NM_001007540.4(CDHR4):c.1640C>T (p.Ala547Val)	CDHR4 (A547V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361074	NM_001007540.4(CDHR4):c.1575C>G (p.Asn525Lys)	CDHR4 (N525K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141397	NM_001007540.4(CDHR4):c.1572G>C (p.Gln524His)	CDHR4 (Q524H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217186	NM_001007540.4(CDHR4):c.1553T>C (p.Ile518Thr)	CDHR4 (I518T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614596	NM_001007540.4(CDHR4):c.1547T>C (p.Leu516Pro)	CDHR4 (L516P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265379	NM_001007540.4(CDHR4):c.1475G>A (p.Arg492His)	CDHR4 (R492H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204039	NM_001007540.4(CDHR4):c.1403C>T (p.Thr468Met)	CDHR4 (T468M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529299	NM_001007540.4(CDHR4):c.1397T>C (p.Val466Ala)	CDHR4 (V466A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314396	NM_001007540.4(CDHR4):c.1393G>A (p.Val465Met)	CDHR4 (V465M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352115	NM_001007540.4(CDHR4):c.1367C>T (p.Ala456Val)	CDHR4 (A456V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213832	NM_001007540.4(CDHR4):c.1366G>C (p.Ala456Pro)	CDHR4 (A456P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342318	NM_001007540.4(CDHR4):c.1351C>T (p.Arg451Trp)	CDHR4 (R451W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141396	NM_001007540.4(CDHR4):c.1154C>G (p.Ala385Gly)	CDHR4 (A385G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214301	NM_001007540.4(CDHR4):c.1136G>A (p.Arg379His)	CDHR4 (R379H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541641	NM_001007540.4(CDHR4):c.1114C>G (p.Leu372Val)	CDHR4 (L372V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265381	NM_001007540.4(CDHR4):c.1078C>T (p.Leu360Phe)	CDHR4 (L360F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234454	NM_001007540.4(CDHR4):c.1066G>A (p.Val356Met)	CDHR4 (V356M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141395	NM_001007540.4(CDHR4):c.1007C>T (p.Pro336Leu)	CDHR4 (P336L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457011	NM_001007540.4(CDHR4):c.968A>G (p.Asn323Ser)	CDHR4 (N323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462969	NM_001007540.4(CDHR4):c.949T>C (p.Trp317Arg)	CDHR4 (W317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254657	NM_001007540.4(CDHR4):c.933T>G (p.Phe311Leu)	CDHR4 (F311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141403	NM_001007540.4(CDHR4):c.928G>C (p.Ala310Pro)	CDHR4 (A310P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299963	NM_001007540.4(CDHR4):c.880G>C (p.Glu294Gln)	CDHR4 (E294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214349	NM_001007540.4(CDHR4):c.863G>A (p.Arg288Gln)	CDHR4 (R288Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603761	NM_001007540.4(CDHR4):c.854G>A (p.Gly285Asp)	CDHR4 (G285D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524016	NM_001007540.4(CDHR4):c.839T>C (p.Ile280Thr)	CDHR4 (I280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552789	NM_001007540.4(CDHR4):c.796C>T (p.Arg266Cys)	CDHR4 (R266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455150	NM_001007540.4(CDHR4):c.790G>A (p.Asp264Asn)	CDHR4 (D264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265376	NM_001007540.4(CDHR4):c.760G>C (p.Glu254Gln)	CDHR4 (E254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595805	NM_001007540.4(CDHR4):c.754G>A (p.Gly252Ser)	CDHR4 (G252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372887	NM_001007540.4(CDHR4):c.712G>A (p.Glu238Lys)	CDHR4 (E238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256117	NM_001007540.4(CDHR4):c.607G>A (p.Val203Ile)	CDHR4 (V203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559515	NM_001007540.4(CDHR4):c.559G>A (p.Gly187Ser)	CDHR4 (G187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141402	NM_001007540.4(CDHR4):c.448C>T (p.Arg150Trp)	CDHR4 (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265380	NM_001007540.4(CDHR4):c.380G>A (p.Cys127Tyr)	CDHR4 (C127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311945	NM_001007540.4(CDHR4):c.379T>C (p.Cys127Arg)	CDHR4 (C127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141401	NM_001007540.4(CDHR4):c.359G>A (p.Arg120Gln)	CDHR4 (R120Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141400	NM_001007540.4(CDHR4):c.235G>A (p.Gly79Ser)	CDHR4 (G79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473534	NM_001007540.4(CDHR4):c.104C>T (p.Thr35Ile)	CDHR4 (T35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247092	NM_001007540.4(CDHR4):c.35C>T (p.Ala12Val)	CDHR4 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265384	NM_001007540.4(CDHR4):c.28C>T (p.Leu10Phe)	CDHR4 (L10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265383	NM_001007540.4(CDHR4):c.13A>G (p.Arg5Gly)	CDHR4 (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 221433	GRCh37/hg19 3p21.31(chr3:49758015-49829191)x3	GMPPB, IP6K1 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 68