ClinVar for MedGen (Select 333146) - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237364	NM_000350.3(ABCA4):c.438del (p.Ile146fs)	ABCA4 (I146fs)	Deletion (frameshift variant)	Stargardt disease 3	GLikely pathogenic
Select item 3237363	NM_000350.3(ABCA4):c.265G>T (p.Glu89Ter)	ABCA4 (E89*)	Single nucleotide variant (nonsense)	Stargardt disease 3	GLikely pathogenic
Select item 3237362	NM_000350.3(ABCA4):c.67-1dup	ABCA4	Duplication (splice acceptor variant)	Stargardt disease 3	GPathogenic
Select item 2024100	NM_000350.3(ABCA4):c.1994del (p.Tyr665fs)	ABCA4 (Y665fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1386202	NM_000350.3(ABCA4):c.1766G>A (p.Trp589Ter)	ABCA4 (W589*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1048166	NM_000350.3(ABCA4):c.[52C>T;5603A>T]	ABCA4 (R18W +2 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048132	NM_000350.3(ABCA4):c.[2588G>C;5603A>T]	ABCA4 (G863A +3 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 971758	NM_000350.3(ABCA4):c.2905A>G (p.Lys969Glu)	ABCA4 (K969E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 966011	NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)	ABCA4 (Y245*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 960785	NM_000350.3(ABCA4):c.1417_1420dup (p.Thr474fs)	ABCA4 (T474fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 929305	NM_000350.3(ABCA4):c.1248_1554+248del	ABCA4	Deletion (splice acceptor variant +1 more)	Stargardt disease 3	GLikely pathogenic
Select item 929304	NM_000350.3(ABCA4):c.2779C>T (p.Pro927Ser)	ABCA4 (P927S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 911552	NM_022726.4(ELOVL4):c.-1G>A	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 911551	NM_022726.4(ELOVL4):c.101-6C>G	ELOVL4	Single nucleotide variant (intron variant)	Stargardt disease 3	GUncertain significance
Select item 911550	NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val)	ELOVL4 (A104V)	Single nucleotide variant (missense variant)	Stargardt disease 3 +2 more	GConflicting classifications of pathogenicity
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 911496	NM_022726.4(ELOVL4):c.*999A>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 911494	NM_022726.4(ELOVL4):c.*1050A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 910339	NM_022726.4(ELOVL4):c.735A>G (p.Lys245=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided +1 more	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 910276	NM_022726.4(ELOVL4):c.*1241T>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 910274	NM_022726.4(ELOVL4):c.*1511G>A	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 909379	NM_022726.4(ELOVL4):c.*163C>T	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 909377	NM_022726.4(ELOVL4):c.*327A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
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 908524	NM_022726.4(ELOVL4):c.*363G>A	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
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 867186	NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro)	ABCA4 (L857P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866516	NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)	ABCA4 (R290W)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 858235	NM_000350.3(ABCA4):c.2267C>T (p.Ser756Phe)	ABCA4 (S756F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 829880	NM_000350.3(ABCA4):c.488_491del (p.Leu163fs)	ABCA4 (L163fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 598145	NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)	ELOVL4	Single nucleotide variant (synonymous variant)	Stargardt disease 3 +1 more	GConflicting classifications of pathogenicity
Select item 561002	NM_022726.4(ELOVL4):c.215del (p.Pro72fs)	ELOVL4 (P72fs)	Deletion (frameshift variant)	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 522787	NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg)	ABCA4 (G607R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 424760	NM_000350.2(ABCA4):c.[2588G>C];[5882G>A]			Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 358162	NM_022726.4(ELOVL4):c.-268T>G	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GBenign
Select item 358161	NM_022726.4(ELOVL4):c.-262A>G	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358160	NM_022726.4(ELOVL4):c.-258C>T	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358159	NM_022726.4(ELOVL4):c.-252G>A	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GLikely benign
Select item 358158	NM_022726.4(ELOVL4):c.-248G>A	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358157	NM_022726.4(ELOVL4):c.-236C>G	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358156	NM_022726.4(ELOVL4):c.-236C>T	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3 +1 more	GBenign
Select item 358155	NM_022726.4(ELOVL4):c.-235C>T	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358154	NM_022726.4(ELOVL4):c.-163C>A	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358153	NM_022726.4(ELOVL4):c.-125C>G	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358152	NM_022726.4(ELOVL4):c.-103G>C	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GLikely benign
Select item 358151	NM_022726.4(ELOVL4):c.-98C>T	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GBenign
Select item 358150	NM_022726.4(ELOVL4):c.-90G>C	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3 +1 more	GBenign
Select item 358149	NM_022726.4(ELOVL4):c.-35C>T	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358148	NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)	ELOVL4 (N117K)	Single nucleotide variant (missense variant)	Stargardt disease 3 +4 more	GConflicting classifications of pathogenicity
Select item 358147	NM_022726.4(ELOVL4):c.502T>C (p.Leu168=)	ELOVL4	Single nucleotide variant (synonymous variant)	Stargardt disease 3 +1 more	GConflicting classifications of pathogenicity
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
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 358144	NM_022726.4(ELOVL4):c.*40A>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GLikely benign
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 358142	NM_022726.4(ELOVL4):c.*142G>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3 +1 more	GBenign
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 358140	NM_022726.4(ELOVL4):c.*240C>T	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358138	NM_022726.4(ELOVL4):c.*360A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 358137	NM_022726.4(ELOVL4):c.*361C>T	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 358135	NM_022726.4(ELOVL4):c.*377T>A	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 358134	NM_022726.4(ELOVL4):c.*509C>T	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 358132	NM_022726.4(ELOVL4):c.*667T>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
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 358129	NM_022726.4(ELOVL4):c.*905T>C	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 358127	NM_022726.4(ELOVL4):c.*1048G>A	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 358125	NM_022726.4(ELOVL4):c.*1506A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	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 358122	NM_022726.4(ELOVL4):c.*1568A>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GUncertain significance
Select item 358121	NM_022726.4(ELOVL4):c.*1669T>G	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3	GBenign
Select item 288341	NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)	ABCA4 (V675I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 236096	NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	ABCA4 (N965S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
Select item 143056	NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)	ELOVL4 (L168F)	Single nucleotide variant (missense variant)	Stargardt disease 3 +3 more	GPathogenic
Select item 137206	NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)	ELOVL4 (M299V)	Single nucleotide variant (missense variant)	Stargardt disease 3 +4 more	GBenign
Select item 137205	NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)	ELOVL4 (E272Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
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 99114	NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	ABCA4 (R681*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99104	NM_000350.3(ABCA4):c.1937+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
Select item 99084	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4 (R602W)	Single nucleotide variant (missense variant)	Stargardt disease +8 more	GPathogenic/Likely pathogenic
Select item 99083	NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	ABCA4 (A60V)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 99082	NM_000350.3(ABCA4):c.1798G>T (p.Asp600Tyr)	ABCA4 (D600Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 99070	NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	ABCA4 (G550R)	Single nucleotide variant (missense variant)	ABCA4-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 99035	NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	ABCA4 (R408*)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GPathogenic
Select item 7913	NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	ABCA4 (R943Q +1 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 7905	NM_000350.3(ABCA4):c.2888del (p.Gly963fs)	ABCA4 (G963fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 7899	NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)	ABCA4 (R18W)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic
Select item 7898	NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	ABCA4 (R212C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 4941	NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)	ELOVL4 (Y270*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4940	NM_022726.4(ELOVL4):c.789_793delinsAAC (p.Asn264fs)	ELOVL4 (N264fs)	Indel (frameshift variant)	Stargardt disease 3	GPathogenic
Select item 4939	NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs)	ELOVL4 (N264fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic

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Items: 99