C1855465[trait identifier] AND "Mendelics"[submitter] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801503	NM_000350.3(ABCA4):c.6471del (p.Lys2158fs)	ABCA4 (K2158fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 99450	NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)	ABCA4 (W2110* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 99439	NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)	ABCA4 (S2080fs)	Microsatellite (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 801504	NM_000350.3(ABCA4):c.6221del (p.Gly2074fs)	ABCA4 (G2074fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 7884	NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	ABCA4 (V2050L +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +9 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)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 7907	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4 (R2030* +1 more)	Single nucleotide variant (nonsense)	Stargardt disease +9 more	GPathogenic/Likely pathogenic
Select item 7882	NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	ABCA4 (L2027F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 801505	NM_000350.3(ABCA4):c.6007A>T (p.Ile2003Phe)	ABCA4 (I2003F +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely benign
Select item 417994	NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)	ABCA4 (K1978E +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +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)	Inborn genetic diseases +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +7 more	GPathogenic/Likely pathogenic
Select item 801506	NM_000350.3(ABCA4):c.5714+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy +1 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)	Age related macular degeneration 2 +10 more	GConflicting classifications of pathogenicity
Select item 99371	NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	ABCA4 (A1794D +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 516808	NM_000350.3(ABCA4):c.5196+1159G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 516809	NM_000350.3(ABCA4):c.5196+1136C>A	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 236127	NM_000350.3(ABCA4):c.5196+1056A>G	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99340	NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	ABCA4	Deletion (inframe_deletion +1 more)	Cone-rod dystrophy +7 more	GPathogenic
Select item 99341	NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)	ABCA4 (V1686M +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 801507	NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs)	ABCA4, LOC126805793 (I1671fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	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 801508	NM_000350.3(ABCA4):c.4734_4739del (p.Phe1579_Leu1580del)	LOC126805793, ABCA4	Deletion (inframe_deletion +1 more)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 99283	NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	ABCA4 (P1486L +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +5 more	GPathogenic/Likely pathogenic
Select item 546600	NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)	ABCA4 (L1473M +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 99278	NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	ABCA4 (R1443H +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +5 more	GPathogenic/Likely pathogenic
Select item 801509	NM_000350.3(ABCA4):c.4108del (p.His1370fs)	ABCA4 (H1370fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 801510	NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs)	ABCA4 (T1346fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 801511	NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs)	ABCA4 (P1335fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 99243	NM_000350.3(ABCA4):c.3862+1G>A	LOC126805794, ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 801512	NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter)	ABCA4, LOC126805794 (Y1243* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 801513	NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro)	ABCA4, LOC126805794 (L1233P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 801514	NM_000350.3(ABCA4):c.3664_3669del (p.Val1222_Glu1223del)	ABCA4, LOC126805794	Deletion (inframe_deletion +1 more)	Severe early-childhood-onset retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 7903	NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)	ABCA4 (L1201R +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +7 more	GBenign/Likely benign
Select item 99224	NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	ABCA4 (R1129L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 801515	NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly)	ABCA4 (R1129G +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 372290	NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	ABCA4 (S1071fs)	Duplication (frameshift variant)	Retinal dystrophy +2 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)	Macular dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 99182	NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	ABCA4 (G991R +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GPathogenic/Likely pathogenic
Select item 7905	NM_000350.3(ABCA4):c.2888del (p.Gly963fs)	ABCA4 (G963fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 7880	NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	ABCA4 (V931M +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Inborn genetic diseases +8 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 590903	NM_000350.3(ABCA4):c.2587+2T>C	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 99141	NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)	ABCA4 (V849A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 801516	NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly)	ABCA4 (D846G +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 801517	NM_000350.3(ABCA4):c.2161-1G>A	ABCA4	Single nucleotide variant (splice acceptor variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 99101	NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)	ABCA4 (V643M)	Single nucleotide variant (missense variant)	Macular degeneration +8 more	GConflicting classifications of pathogenicity
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 99067	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4 (L541P)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +7 more	GPathogenic/Likely pathogenic
Select item 801519	NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln)	ABCA4 (L455Q)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 143072	NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)	ABCA4 (E432K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99033	NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	ABCA4 (N380K)	Single nucleotide variant (missense variant)	ABCA4-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 99026	NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)	ABCA4 (D342fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99517	NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)	ABCA4 (E328*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
Select item 99434	NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)	ABCA4 (S206R)	Single nucleotide variant (missense variant)	ABCA4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 99166	NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	ABCA4 (N96D)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 801520	NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)	ABCA4 (W12*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy	GPathogenic
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
Select item 281139	NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)	ABCB4 (A934T)	Single nucleotide variant (missense variant +1 more)	ABCB4-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 291252	NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	ABCB4 (N510S)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 95929	NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)	CNGB3 (T298P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 261090	NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)	CNGB3 (C234W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign

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Items: 63