6785[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	LOC129996748, LOC129996749 +299 more	Copy number loss	See cases	GPathogenic
Select item 155132	GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1	BCKDHB, ELOVL4 +27 more	Copy number loss	See cases	GUncertain significance
Select item 358120	NM_022726.3(ELOVL4):c.*1795T>A	ELOVL4	Single nucleotide variant	Stargardt Disease, Dominant	GBenign
Select item 358121	NM_022726.4(ELOVL4):c.*1669T>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 358122	NM_022726.4(ELOVL4):c.*1568A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358123	NM_022726.4(ELOVL4):c.1549_1553del	ELOVL4	Deletion (3 prime UTR variant)	Stargardt Disease, Dominant	GUncertain significance
Select item 358124	NM_022726.4(ELOVL4):c.*1551A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 910274	NM_022726.4(ELOVL4):c.*1511G>A	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358125	NM_022726.4(ELOVL4):c.*1506A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 910275	NM_022726.4(ELOVL4):c.*1423A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 910276	NM_022726.4(ELOVL4):c.*1241T>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 910277	NM_022726.4(ELOVL4):c.*1193T>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358126	NM_022726.4(ELOVL4):c.*1066T>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 911494	NM_022726.4(ELOVL4):c.*1050A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 358127	NM_022726.4(ELOVL4):c.*1048G>A	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358128	NM_022726.4(ELOVL4):c.*1038A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 911495	NM_022726.4(ELOVL4):c.*1020A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 911496	NM_022726.4(ELOVL4):c.*999A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 911497	NM_022726.4(ELOVL4):c.*950T>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358129	NM_022726.4(ELOVL4):c.*905T>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358130	NM_022726.4(ELOVL4):c.*803T>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358131	NM_022726.4(ELOVL4):c.794_795del	ELOVL4	Deletion (3 prime UTR variant)	Stargardt Disease, Dominant	GBenign
Select item 358132	NM_022726.4(ELOVL4):c.*667T>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 358133	NM_022726.4(ELOVL4):c.*609G>A	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 908523	NM_022726.4(ELOVL4):c.*606G>T	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358134	NM_022726.4(ELOVL4):c.*509C>T	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 358135	NM_022726.4(ELOVL4):c.*377T>A	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 358136	NM_022726.4(ELOVL4):c.*373A>T	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 908524	NM_022726.4(ELOVL4):c.*363G>A	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358137	NM_022726.4(ELOVL4):c.*361C>T	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 358138	NM_022726.4(ELOVL4):c.*360A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 909376	NM_022726.4(ELOVL4):c.*349C>T	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 909377	NM_022726.4(ELOVL4):c.*327A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 909378	NM_022726.4(ELOVL4):c.*309T>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358139	NM_022726.4(ELOVL4):c.238_242del	ELOVL4	Deletion (3 prime UTR variant)	Stargardt Disease, Dominant	GLikely benign
Select item 358140	NM_022726.4(ELOVL4):c.*240C>T	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358141	NM_022726.4(ELOVL4):c.*217C>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 909379	NM_022726.4(ELOVL4):c.*163C>T	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 909380	NM_022726.4(ELOVL4):c.*146A>T	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358142	NM_022726.4(ELOVL4):c.*142G>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3 +1 more	GBenign
Select item 358143	NM_022726.4(ELOVL4):c.*125C>A	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358144	NM_022726.4(ELOVL4):c.*40A>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GLikely benign
Select item 358145	NM_022726.4(ELOVL4):c.*8T>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3 +1 more	GBenign
Select item 2988959	NM_022726.4(ELOVL4):c.942T>G (p.Asp314Glu)	ELOVL4 (D314E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810542	NM_022726.4(ELOVL4):c.932C>G (p.Ala311Gly)	ELOVL4 (A311G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281603	NM_022726.4(ELOVL4):c.931G>A (p.Ala311Thr)	ELOVL4 (A311T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1146220	NM_022726.4(ELOVL4):c.924T>C (p.Asn308=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111787	NM_022726.4(ELOVL4):c.922A>C (p.Asn308His)	ELOVL4 (N308H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486425	NM_022726.4(ELOVL4):c.918G>C (p.Gln306His)	ELOVL4 (Q306H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359314	NM_022726.4(ELOVL4):c.916C>T (p.Gln306Ter)	ELOVL4 (Q306*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2019286	NM_022726.4(ELOVL4):c.906del (p.Asn302fs)	ELOVL4 (N302fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1948588	NM_022726.4(ELOVL4):c.904A>G (p.Asn302Asp)	ELOVL4 (N302D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1003182	NM_022726.4(ELOVL4):c.900A>G (p.Ile300Met)	ELOVL4 (I300M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2299853	NM_022726.4(ELOVL4):c.899T>C (p.Ile300Thr)	ELOVL4 (I300T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1662442	NM_022726.4(ELOVL4):c.894_895inv (p.Met299Val)	ELOVL4 (M299V)	Inversion (missense variant)	not provided	GLikely benign
Select item 137206	NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)	ELOVL4 (M299V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 34 +4 more	GBenign
Select item 1721750	NM_022726.4(ELOVL4):c.884A>G (p.Glu295Gly)	ELOVL4 (E295G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127212	NM_022726.4(ELOVL4):c.872T>G (p.Val291Gly)	ELOVL4 (V291G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112198	NM_022726.4(ELOVL4):c.869G>A (p.Gly290Asp)	ELOVL4 (G290D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3088476	NM_022726.4(ELOVL4):c.863C>A (p.Ala288Glu)	ELOVL4 (A288E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1380553	NM_022726.4(ELOVL4):c.851A>G (p.Asn284Ser)	ELOVL4 (N284S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121320	NM_022726.4(ELOVL4):c.849G>C (p.Met283Ile)	ELOVL4 (M283I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044461	NM_022726.4(ELOVL4):c.848T>C (p.Met283Thr)	ELOVL4 (M283T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934013	NM_022726.4(ELOVL4):c.847A>G (p.Met283Val)	ELOVL4 (M283V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789686	NM_022726.4(ELOVL4):c.844G>A (p.Ala282Thr)	ELOVL4 (A282T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696025	NM_022726.4(ELOVL4):c.839A>C (p.Lys280Thr)	ELOVL4 (K280T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498914	NM_022726.4(ELOVL4):c.835G>A (p.Gly279Arg)	ELOVL4 (G279R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645432	NM_022726.4(ELOVL4):c.834T>C (p.Ala278=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043709	NM_022726.4(ELOVL4):c.829A>C (p.Lys277Gln)	ELOVL4 (K277Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120340	NM_022726.4(ELOVL4):c.826C>A (p.Pro276Thr)	ELOVL4 (P276T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137205	NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)	ELOVL4 (E272Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1717960	NM_022726.4(ELOVL4):c.812A>G (p.Lys271Arg)	ELOVL4 (K271R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816561	NM_022726.4(ELOVL4):c.810C>T (p.Tyr270=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4941	NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)	ELOVL4 (Y270*)	Single nucleotide variant (nonsense)	Stargardt disease 3 +1 more	GPathogenic/Likely pathogenic
Select item 1652998	NM_022726.4(ELOVL4):c.804G>A (p.Arg268=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1000990	NM_022726.4(ELOVL4):c.803G>T (p.Arg268Leu)	ELOVL4 (R268L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370413	NM_022726.4(ELOVL4):c.802C>T (p.Arg268Trp)	ELOVL4 (R268W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 946527	NM_022726.4(ELOVL4):c.802C>A (p.Arg268=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 137204	NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr)	ELOVL4 (I267T)	Single nucleotide variant (missense variant)	Stargardt disease 3 +2 more	GBenign
Select item 2441210	NM_022726.4(ELOVL4):c.797A>T (p.Tyr266Phe)	ELOVL4 (Y266F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4939	NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs)	ELOVL4 (N264fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 4940	NM_022726.4(ELOVL4):c.789_793delinsAAC (p.Asn264fs)	ELOVL4 (N264fs)	Indel (frameshift variant)	Stargardt disease 3	GPathogenic
Select item 1913386	NM_022726.4(ELOVL4):c.790A>G (p.Asn264Asp)	ELOVL4 (N264D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809974	NM_022726.4(ELOVL4):c.789dup (p.Asn264Ter)	ELOVL4 (N264*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 1386610	NM_022726.4(ELOVL4):c.770G>A (p.Ser257Asn)	ELOVL4 (S257N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435121	NM_022726.4(ELOVL4):c.766A>G (p.Ile256Val)	ELOVL4 (I256V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1143748	NM_022726.4(ELOVL4):c.762T>C (p.Tyr254=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388370	NM_022726.4(ELOVL4):c.761A>G (p.Tyr254Cys)	ELOVL4 (Y254C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754098	NM_022726.4(ELOVL4):c.755T>C (p.Ile252Thr)	ELOVL4 (I252T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103056	NM_022726.4(ELOVL4):c.739A>C (p.Met247Leu)	ELOVL4 (M247L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430572	NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly)	ELOVL4 (W246G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 910339	NM_022726.4(ELOVL4):c.735A>G (p.Lys245=)	ELOVL4	Single nucleotide variant (synonymous variant)	Stargardt disease 3 +1 more	GUncertain significance
Select item 1461885	NM_022726.4(ELOVL4):c.734A>G (p.Lys245Arg)	ELOVL4 (K245R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1144339	NM_022726.4(ELOVL4):c.732C>T (p.Pro244=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654464	NM_022726.4(ELOVL4):c.723C>T (p.Cys241=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929649	NM_022726.4(ELOVL4):c.720C>G (p.Asp240Glu)	ELOVL4 (D240E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061912	NM_022726.4(ELOVL4):c.715A>G (p.Thr239Ala)	ELOVL4 (T239A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358146	NM_022726.4(ELOVL4):c.699G>A (p.Thr233=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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