C1855465[trait identifier] AND "DBGen Ocular Genomics"[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172702	NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)	ABCA4 (P2103H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1298331	NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)	ABCA4 (G2100E +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	Severe early-childhood-onset retinal dystrophy +5 more	GPathogenic
Select item 2628044	NM_000350.3(ABCA4):c.5714+103A>G	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 1213853	NM_000350.3(ABCA4):c.4774-9G>A	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 1213859	NM_000350.3(ABCA4):c.4734_4739delinsCC (p.Phe1579fs)	ABCA4, LOC126805793 (F1579fs)	Indel (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 2628043	NM_000350.3(ABCA4):c.4540-1573C>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 2628047	NM_000350.3(ABCA4):c.4192G>A (p.Gly1398Ser)	ABCA4 (G1398S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 2628018	NM_000350.3(ABCA4):c.3732del (p.Ser1245fs)	ABCA4, LOC126805794 (S1245fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 1172701	NM_000350.3(ABCA4):c.3415T>G (p.Tyr1139Asp)	ABCA4 (Y1139D +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 1213878	NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro)	ABCA4 (T1117P +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1213969	NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter)	ABCA4 (S1099* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 1213975	NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg)	ABCA4 (P1088R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GLikely pathogenic
Select item 1213957	NM_000350.3(ABCA4):c.2922_2949del (p.Ile975fs)	ABCA4 (I975fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 7905	NM_000350.3(ABCA4):c.2888del (p.Gly963fs)	ABCA4 (G963fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1213983	NM_000350.3(ABCA4):c.2873T>A (p.Ile958Asn)	ABCA4 (I958N +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1213869	NM_000350.3(ABCA4):c.2744-402G>A	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 2628034	NM_000350.3(ABCA4):c.1820G>T (p.Gly607Val)	ABCA4 (G607V)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 298258	NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)	ABCA4 (R508C)	Single nucleotide variant (missense variant)	Macular degeneration +6 more	GConflicting classifications of pathogenicity
Select item 1076593	NM_000350.3(ABCA4):c.1391T>A (p.Leu464Ter)	ABCA4 (L464*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 838663	NM_000350.3(ABCA4):c.1356+4dup	ABCA4	Duplication (intron variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 1213846	NM_000350.3(ABCA4):c.758T>A (p.Leu253His)	ABCA4 (L253H)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 2628055	NM_000350.3(ABCA4):c.570+1818G>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance

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Items: 23