54714[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155179	GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	ATP6V0D2, CA1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 369616	NM_019098.4(CNGB3):c.*1881T>C	CNGB3	Single nucleotide variant (genic downstream transcript variant)	not provided +2 more	GBenign
Select item 909362	NM_019098.4(CNGB3):c.*1733T>C	CNGB3	Single nucleotide variant	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 909363	NM_019098.4(CNGB3):c.*1705A>C	CNGB3	Single nucleotide variant	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363843	NM_019098.4(CNGB3):c.*1701C>T	CNGB3	Single nucleotide variant	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 910324	NM_019098.4(CNGB3):c.*1654C>T	CNGB3	Single nucleotide variant	Achromatopsia 3 +1 more	GUncertain significance
Select item 363844	NM_019098.4(CNGB3):c.*1639C>A	CNGB3	Single nucleotide variant	not provided +2 more	GBenign
Select item 363845	NM_019098.4(CNGB3):c.*1638G>A	CNGB3	Single nucleotide variant	Severe early-childhood-onset retinal dystrophy +2 more	GBenign
Select item 911536	NM_019098.5(CNGB3):c.*1476T>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363846	NM_019098.5(CNGB3):c.*1470G>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363847	NM_019098.5(CNGB3):c.*1459C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 908582	NM_019098.5(CNGB3):c.*1431G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363848	NM_019098.5(CNGB3):c.*1371G>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363849	NM_019098.5(CNGB3):c.*1368T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363850	NM_019098.5(CNGB3):c.*1303G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +2 more	GBenign
Select item 909440	NM_019098.5(CNGB3):c.*1218C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363851	NM_019098.5(CNGB3):c.*1183T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 909441	NM_019098.5(CNGB3):c.*1143T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363852	NM_019098.5(CNGB3):c.*1093C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 910387	NM_019098.5(CNGB3):c.*997A>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GBenign/Likely benign
Select item 910388	NM_019098.5(CNGB3):c.*915G>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GBenign
Select item 363853	NM_019098.5(CNGB3):c.909_910del	CNGB3	Deletion (3 prime UTR variant)	Stargardt Disease, Recessive +1 more	GLikely benign
Select item 910389	NM_019098.5(CNGB3):c.*800C>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363854	NM_019098.5(CNGB3):c.*798A>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 363855	NM_019098.5(CNGB3):c.*778T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GBenign
Select item 911602	NM_019098.5(CNGB3):c.*737T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363856	NM_019098.5(CNGB3):c.*735A>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +2 more	GBenign
Select item 363857	NM_019098.5(CNGB3):c.*731C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 908647	NM_019098.5(CNGB3):c.*649A>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363858	NM_019098.5(CNGB3):c.*621G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GLikely benign
Select item 908648	NM_019098.5(CNGB3):c.*570T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 908649	NM_019098.5(CNGB3):c.*499G>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 909502	NM_019098.5(CNGB3):c.*435G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363859	NM_019098.5(CNGB3):c.*389A>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GBenign
Select item 363860	NM_019098.5(CNGB3):c.*379T>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363861	NM_019098.5(CNGB3):c.*293T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 910435	NM_019098.5(CNGB3):c.*291T>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 910436	NM_019098.5(CNGB3):c.*272G>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363862	NM_019098.5(CNGB3):c.*206G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 910437	NM_019098.5(CNGB3):c.*183A>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363863	NM_019098.5(CNGB3):c.*125G>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GConflicting classifications of pathogenicity
Select item 911660	NM_019098.5(CNGB3):c.*108C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 363864	NM_019098.5(CNGB3):c.*84C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363865	NM_019098.5(CNGB3):c.*51C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 908710	NM_019098.5(CNGB3):c.*29G>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 1541549	NM_019098.5(CNGB3):c.2430A>G (p.Ter810=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 908711	NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr)	CNGB3 (K808T)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GUncertain significance
Select item 363866	NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)	CNGB3 (A807G)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 958631	NM_019098.5(CNGB3):c.2419G>T (p.Ala807Ser)	CNGB3 (A807S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 908712	NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr)	CNGB3 (A807T)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 more	GUncertain significance
Select item 1121457	NM_019098.5(CNGB3):c.2418G>A (p.Lys806=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 166898	NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)	CNGB3 (E805D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 523799	NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter)	CNGB3 (K804*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1154369	NM_019098.5(CNGB3):c.2403T>C (p.Ile801=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497120	NM_019098.5(CNGB3):c.2401A>G (p.Ile801Val)	CNGB3 (I801V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135863	NM_019098.5(CNGB3):c.2400T>A (p.Thr800=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910819	NM_019098.5(CNGB3):c.2399C>T (p.Thr800Ile)	CNGB3 (T800I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1103697	NM_019098.5(CNGB3):c.2397T>C (p.Leu799=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052781	NM_019098.5(CNGB3):c.2395del (p.Thr800fs)	CNGB3 (T800fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1569331	NM_019098.5(CNGB3):c.2394T>C (p.Val798=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614962	NM_019098.5(CNGB3):c.2391G>A (p.Glu797=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 863888	NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly)	CNGB3 (E796G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554970	NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg)	CNGB3 (G795R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2971860	NM_019098.5(CNGB3):c.2382C>G (p.Gly794=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654729	NM_019098.5(CNGB3):c.2382C>T (p.Gly794=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1111407	NM_019098.5(CNGB3):c.2382C>A (p.Gly794=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791305	NM_019098.5(CNGB3):c.2376T>C (p.Ala792=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 836233	NM_019098.5(CNGB3):c.2375C>T (p.Ala792Val)	CNGB3 (A792V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1080063	NM_019098.5(CNGB3):c.2370T>C (p.Pro790=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149276	NM_019098.5(CNGB3):c.2367T>C (p.Ala789=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161067	NM_019098.5(CNGB3):c.2365G>A (p.Ala789Thr)	CNGB3 (A789T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409475	NM_019098.5(CNGB3):c.2362A>G (p.Met788Val)	CNGB3 (M788V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874228	NM_019098.5(CNGB3):c.2361C>T (p.Ser787=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 427668	NM_019098.5(CNGB3):c.2359del (p.Ser787fs)	CNGB3 (S787fs)	Deletion (frameshift variant)	Achromatopsia 3	GPathogenic
Select item 2087111	NM_019098.5(CNGB3):c.2358C>T (p.Ile786=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1121465	NM_019098.5(CNGB3):c.2352C>T (p.Leu784=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 909568	NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe)	CNGB3 (L784F)	Single nucleotide variant (missense variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 1135840	NM_019098.5(CNGB3):c.2346A>G (p.Gln782=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108209	NM_019098.5(CNGB3):c.2342G>C (p.Arg781Pro)	CNGB3 (R781P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 858383	NM_019098.5(CNGB3):c.2342G>A (p.Arg781His)	CNGB3 (R781H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1112055	NM_019098.5(CNGB3):c.2340T>A (p.Ser780=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757205	NM_019098.5(CNGB3):c.2334G>C (p.Gly778=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804680	NM_019098.5(CNGB3):c.2329A>C (p.Arg777=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810299	NM_019098.5(CNGB3):c.2328del (p.Arg777fs)	CNGB3 (R777fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1979217	NM_019098.5(CNGB3):c.2326C>T (p.Pro776Ser)	CNGB3 (P776S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1124413	NM_019098.5(CNGB3):c.2325A>G (p.Leu775=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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