C1855465[trait identifier] AND "3billion"[submitter] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99476	NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	ABCA4 (Q2220* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 689736	NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)	ABCA4 (G2074V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 143076	NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	ABCA4 (R2040Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99431	NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	ABCA4 (R2040* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 282260	NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)	ABCA4 (R2038Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 417994	NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)	ABCA4 (K1978E +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 236134	NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)	ABCA4 (H1838R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99340	NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	ABCA4	Deletion (inframe_deletion +1 more)	Severe early-childhood-onset retinal dystrophy +7 more	GPathogenic
Select item 99332	NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	ABCA4, LOC126805793 (S1642R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 99321	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4, LOC126805793 (A1598D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GPathogenic/Likely pathogenic
Select item 99306	NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)	ABCA4 (T1537M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 99284	NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	ABCA4 (C1488R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99282	NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)	ABCA4 (W1479* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 99278	NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	ABCA4 (R1443H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99263	NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	ABCA4 (Q1412* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +6 more	GPathogenic
Select item 1333411	NM_000350.3(ABCA4):c.3941C>T (p.Pro1314Leu)	ABCA4 (P1314L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 99245	NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)	ABCA4 (R1300* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
Select item 1687258	NM_000350.3(ABCA4):c.3540del (p.Ser1181fs)	ABCA4 (S1181fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1687185	NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter)	ABCA4 (L1157* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 1456034	NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)	ABCA4 (D1102Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 99211	NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	ABCA4 (E1087K +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +6 more	GPathogenic
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 7880	NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	ABCA4 (V931M +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 99135	NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)	ABCA4 (G818E +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
Select item 99104	NM_000350.3(ABCA4):c.1937+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 19 +3 more	GPathogenic
Select item 99084	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4 (R602W)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +8 more	GPathogenic/Likely pathogenic
Select item 99067	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4 (L541P)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 7898	NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	ABCA4 (R212C)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 99217	NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	ABCA4 (L11P)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +7 more	GPathogenic/Likely pathogenic

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Items: 31