"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99468	NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)	ABCA4 (F2188S +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 812194	NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)	ABCA4 (S2129N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 812195	NM_000350.3(ABCA4):c.6077del (p.Leu2026fs)	ABCA4 (L2026fs)	Deletion (frameshift variant)	Stargardt disease	GPathogenic
Select item 99421	NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)	ABCA4 (G1977S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 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 812196	NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro)	ABCA4 (H1941P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 99390	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +10 more	GConflicting classifications of pathogenicity
Select item 99375	NM_000350.3(ABCA4):c.5460+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 812197	NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)	ABCA4 (A1794P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 812198	NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)	ABCA4 (L1784R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 812199	NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs)	ABCA4 (M1778fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 236129	NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	ABCA4 (A1773V +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 236128	NM_000350.3(ABCA4):c.5312+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 99351	NM_000350.3(ABCA4):c.5196+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +3 more	GPathogenic
Select item 236125	NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)	ABCA4 (W1730* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 812200	NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)	ABCA4 (Y1723* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812201	NM_000350.3(ABCA4):c.5059del (p.Ile1687fs)	ABCA4 (I1687fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 236123	NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	ABCA4, LOC126805793 (P1660L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 99331	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4, LOC126805793 (R1640Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99330	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	ABCA4, LOC126805793 (R1640W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +6 more	GPathogenic/Likely pathogenic; other
Select item 812202	NM_000350.3(ABCA4):c.4895dup (p.Asn1632fs)	ABCA4, LOC126805793 (N1632fs)	Duplication (frameshift variant)	Cone-rod dystrophy	GPathogenic
Select item 812203	NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	ABCA4, LOC126805793 (W1618C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 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 99304	NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	ABCA4 (D1532N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 99303	NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	ABCA4 (T1526M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99292	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4 (Q1513fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 99283	NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	ABCA4 (P1486L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 812204	NM_000350.3(ABCA4):c.4254-1G>A	ABCA4	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 7904	NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	ABCA4 (P1380L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 497057	NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)	ABCA4, LOC126805794 (G1203E +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 236102	NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	ABCA4 (R1161H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 812205	NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del)	ABCA4 (C1150del +1 more)	Deletion (inframe_deletion +1 more)	Stargardt disease	GPathogenic
Select item 92867	NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	ABCA4 (R1108C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 289310	NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	ABCA4 (T1019M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 99192	NM_000350.3(ABCA4):c.3050+5G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +1 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 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 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 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99125	NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)	ABCA4 (S765N)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 635441	NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)	ABCA4 (R653L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 801518	NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)	ABCA4 (E616K)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 812206	NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu)	ABCA4 (D586E)	Single nucleotide variant (missense variant)	Stargardt disease	GLikely pathogenic
Select item 620085	NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter)	ABCA4 (R572*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 812193	NM_000350.3(ABCA4):c.[1411G>A;5693G>A]	ABCA4 (E471K +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 99052	NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	ABCA4 (E471K)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 812207	NM_000350.3(ABCA4):c.1172del (p.Lys391fs)	ABCA4 (K391fs)	Deletion (frameshift variant)	Stargardt disease	GPathogenic
Select item 812192	NM_000350.3(ABCA4):c.[1531C>T;872C>T]	ABCA4 (P291L +1 more)	Single nucleotide variant (missense variant)	maculopathy	GLikely pathogenic
Select item 812208	NM_000350.3(ABCA4):c.834del (p.Asp279fs)	ABCA4 (D279fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
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 99301	NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)	ABCA4 (R152Q)	Single nucleotide variant (missense variant)	ABCA4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 812209	NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr)	ABCA4 (I151T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812210	NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser)	ABCA4 (C81S)	Single nucleotide variant (missense variant)	Stargardt disease	GLikely pathogenic
Select item 236068	NM_000350.2(ABCA4):c.[1A>G;6089G>A]	ABCA4 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	Stargardt disease	GPathogenic

ClinVar

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Items: 58