7521[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2390378	NM_021924.5(CDHR5):c.2515G>A (p.Gly839Ser)	CDHR5 (G645S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327952	NM_021924.5(CDHR5):c.2483C>T (p.Ala828Val)	CDHR5 (A634V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516422	NM_021924.5(CDHR5):c.2482G>A (p.Ala828Thr)	CDHR5 (A634T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265391	NM_021924.5(CDHR5):c.2464G>A (p.Gly822Ser)	CDHR5 (G628S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399280	NM_021924.5(CDHR5):c.2423C>T (p.Ala808Val)	CDHR5 (A614V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404904	NM_021924.5(CDHR5):c.2422G>A (p.Ala808Thr)	CDHR5 (A614T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141419	NM_021924.5(CDHR5):c.2407G>A (p.Val803Met)	CDHR5 (V609M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250445	NM_021924.5(CDHR5):c.2398G>C (p.Glu800Gln)	CDHR5 (E794Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461151	NM_021924.5(CDHR5):c.2369C>T (p.Ala790Val)	CDHR5 (A596V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411064	NM_021924.5(CDHR5):c.2356G>A (p.Gly786Ser)	CDHR5 (G780S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394016	NM_021924.5(CDHR5):c.2348G>A (p.Arg783Gln)	CDHR5 (R783Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550991	NM_021924.5(CDHR5):c.2315C>A (p.Thr772Lys)	CDHR5 (T772K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322815	NM_021924.5(CDHR5):c.2305G>A (p.Gly769Arg)	CDHR5 (G575R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409468	NM_021924.5(CDHR5):c.2291C>T (p.Ala764Val)	CDHR5 (A764V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380105	NM_021924.5(CDHR5):c.2269G>A (p.Gly757Ser)	CDHR5 (G751S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543993	NM_021924.5(CDHR5):c.2263C>T (p.Pro755Ser)	CDHR5 (P561S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321565	NM_021924.5(CDHR5):c.2216C>T (p.Ala739Val)	CDHR5 (A739V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411129	NM_021924.5(CDHR5):c.2204A>T (p.Asp735Val)	CDHR5 (D735V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265386	NM_021924.5(CDHR5):c.2203G>A (p.Asp735Asn)	CDHR5 (D735N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411128	NM_021924.5(CDHR5):c.2201A>C (p.His734Pro)	CDHR5 (H728P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290827	NM_021924.5(CDHR5):c.2185G>A (p.Val729Ile)	CDHR5 (V723I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488090	NM_021924.5(CDHR5):c.2180C>T (p.Ala727Val)	CDHR5 (A533V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489363	NM_021924.5(CDHR5):c.2150C>T (p.Ala717Val)	CDHR5 (A717V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260595	NM_021924.5(CDHR5):c.2145C>A (p.Asn715Lys)	CDHR5 (N521K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463421	NM_021924.5(CDHR5):c.2103C>G (p.Cys701Trp)	CDHR5 (C507W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610634	NM_021924.5(CDHR5):c.2030C>T (p.Ala677Val)	CDHR5 (A671V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265397	NM_021924.5(CDHR5):c.2018G>T (p.Gly673Val)	CDHR5 (G479V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265395	NM_021924.5(CDHR5):c.1985G>A (p.Arg662His)	CDHR5 (R468H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380082	NM_021924.5(CDHR5):c.1984C>T (p.Arg662Cys)	CDHR5 (R468C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141418	NM_021924.5(CDHR5):c.1977G>C (p.Glu659Asp)	CDHR5 (E659D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590865	NM_021924.5(CDHR5):c.1973C>T (p.Ser658Leu)	CDHR5 (S652L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221912	NM_021924.5(CDHR5):c.1933C>T (p.Pro645Ser)	CDHR5 (P645S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379742	NM_021924.5(CDHR5):c.1876A>C (p.Thr626Pro)	CDHR5 (T620P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291671	NM_021924.5(CDHR5):c.1839G>A (p.Met613Ile)	CDHR5 (M607I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346416	NM_021924.5(CDHR5):c.1835C>T (p.Pro612Leu)	CDHR5 (P606L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596252	NM_021924.5(CDHR5):c.1790C>T (p.Pro597Leu)	CDHR5 (P591L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557413	NM_021924.5(CDHR5):c.1780C>G (p.Pro594Ala)	CDHR5 (P588A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141416	NM_021924.5(CDHR5):c.1753A>C (p.Ser585Arg)	CDHR5 (S579R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354892	NM_021924.5(CDHR5):c.1753A>G (p.Ser585Gly)	CDHR5 (S579G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2287363	NM_021924.5(CDHR5):c.1742C>T (p.Pro581Leu)	CDHR5 (P575L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265390	NM_021924.5(CDHR5):c.1709C>T (p.Thr570Ile)	CDHR5 (T564I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548001	NM_021924.5(CDHR5):c.1675A>G (p.Thr559Ala)	CDHR5 (T553A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292744	NM_021924.5(CDHR5):c.1661G>C (p.Gly554Ala)	CDHR5 (G548A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344735	NM_021924.5(CDHR5):c.1646A>G (p.Gln549Arg)	CDHR5 (Q549R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141415	NM_021924.5(CDHR5):c.1643C>T (p.Ser548Phe)	CDHR5 (S548F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141414	NM_021924.5(CDHR5):c.1637G>C (p.Gly546Ala)	CDHR5 (G540A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306493	NM_021924.5(CDHR5):c.1598C>G (p.Ala533Gly)	CDHR5 (A527G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141413	NM_021924.5(CDHR5):c.1583C>T (p.Thr528Ile)	CDHR5 (T522I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141412	NM_021924.5(CDHR5):c.1576A>T (p.Asn526Tyr)	CDHR5 (N520Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141411	NM_021924.5(CDHR5):c.1550C>A (p.Thr517Lys)	CDHR5 (T511K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265388	NM_021924.5(CDHR5):c.1544C>T (p.Ser515Leu)	CDHR5 (S515L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509409	NM_021924.5(CDHR5):c.1523C>T (p.Thr508Ile)	CDHR5 (T502I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403165	NM_021924.5(CDHR5):c.1472C>A (p.Pro491His)	CDHR5 (P485H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227007	NM_021924.5(CDHR5):c.1453C>G (p.Pro485Ala)	CDHR5 (P485A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141410	NM_021924.5(CDHR5):c.1450C>T (p.Pro484Ser)	CDHR5 (P478S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141409	NM_021924.5(CDHR5):c.1430C>T (p.Thr477Ile)	CDHR5 (T471I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510912	NM_021924.5(CDHR5):c.1418C>A (p.Pro473His)	CDHR5 (P467H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483153	NM_021924.5(CDHR5):c.1409C>A (p.Thr470Lys)	CDHR5 (T464K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325725	NM_021924.5(CDHR5):c.1388C>A (p.Pro463Gln)	CDHR5 (P463Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265389	NM_021924.5(CDHR5):c.1342G>A (p.Glu448Lys)	CDHR5 (E448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342032	NM_021924.5(CDHR5):c.1340T>C (p.Ile447Thr)	CDHR5 (I447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296762	NM_021924.5(CDHR5):c.1288G>A (p.Ala430Thr)	CDHR5 (A430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141408	NM_021924.5(CDHR5):c.1256C>A (p.Thr419Asn)	CDHR5 (T419N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389182	NM_021924.5(CDHR5):c.1220C>T (p.Ser407Leu)	CDHR5 (S407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141407	NM_021924.5(CDHR5):c.1192G>A (p.Ala398Thr)	CDHR5 (A398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342844	NM_021924.5(CDHR5):c.1178C>T (p.Ser393Leu)	CDHR5 (S393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606514	NM_021924.5(CDHR5):c.1118T>C (p.Val373Ala)	CDHR5 (V373A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265387	NM_021924.5(CDHR5):c.1091C>T (p.Ala364Val)	CDHR5 (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141405	NM_021924.5(CDHR5):c.1079G>A (p.Arg360His)	CDHR5 (R360H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141404	NM_021924.5(CDHR5):c.1058G>A (p.Arg353His)	CDHR5 (R353H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339624	NM_021924.5(CDHR5):c.1051C>G (p.Pro351Ala)	CDHR5 (P351A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388197	NM_021924.5(CDHR5):c.1040C>T (p.Ala347Val)	CDHR5 (A347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265394	NM_021924.5(CDHR5):c.1001G>A (p.Arg334His)	CDHR5 (R334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285281	NM_021924.5(CDHR5):c.995T>C (p.Leu332Pro)	CDHR5 (L332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343557	NM_021924.5(CDHR5):c.991G>A (p.Asp331Asn)	CDHR5 (D331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141431	NM_021924.5(CDHR5):c.957G>A (p.Met319Ile)	CDHR5 (M319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466156	NM_021924.5(CDHR5):c.943G>A (p.Val315Ile)	CDHR5 (V315I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141429	NM_021924.5(CDHR5):c.925C>T (p.Leu309Phe)	CDHR5 (L309F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475921	NM_021924.5(CDHR5):c.922A>G (p.Asn308Asp)	CDHR5 (N308D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786183	NM_021924.5(CDHR5):c.894T>C (p.Gly298=)	CDHR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3141428	NM_021924.5(CDHR5):c.844G>A (p.Gly282Ser)	CDHR5 (G282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141427	NM_021924.5(CDHR5):c.814G>C (p.Gly272Arg)	CDHR5 (G272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402531	NM_021924.5(CDHR5):c.808C>T (p.Arg270Cys)	CDHR5 (R270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265398	NM_021924.5(CDHR5):c.794C>T (p.Ser265Phe)	CDHR5 (S265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141426	NM_021924.5(CDHR5):c.776C>T (p.Thr259Met)	CDHR5 (T259M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297615	NM_021924.5(CDHR5):c.770T>C (p.Val257Ala)	CDHR5 (V257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141425	NM_021924.5(CDHR5):c.688G>A (p.Ala230Thr)	CDHR5 (A230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387462	NM_021924.5(CDHR5):c.653C>T (p.Thr218Ile)	CDHR5 (T218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516071	NM_021924.5(CDHR5):c.617G>A (p.Arg206Gln)	CDHR5 (R206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141424	NM_021924.5(CDHR5):c.611T>C (p.Leu204Pro)	CDHR5 (L204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623762	NM_021924.5(CDHR5):c.595A>G (p.Met199Val)	CDHR5 (M199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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