C1866422[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 874699	NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)	ABCA4 (R2269* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3 +5 more	GUncertain significance
Select item 99494	NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	ABCA4 (S2255I +1 more)	Single nucleotide variant (missense variant)	not provided +11 more	GBenign
Select item 99491	NM_000350.3(ABCA4):c.6730-3T>C	ABCA4	Single nucleotide variant (intron variant)	Macular degeneration +10 more	GBenign
Select item 283573	NM_000350.3(ABCA4):c.6729+5_6729+19del	ABCA4	Deletion (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1488510	NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg)	ABCA4 (Q2187R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1312247	NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)	ABCA4 (S2127P +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 99452	NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	ABCA4	Single nucleotide variant (synonymous variant)	Age related macular degeneration 2 +6 more	GPathogenic/Likely pathogenic
Select item 99443	NM_000350.3(ABCA4):c.6282+7G>A	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +10 more	GBenign/Likely benign
Select item 99440	NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +11 more	GBenign/Likely benign
Select item 99433	NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)	ABCA4 (L2060R +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GPathogenic
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 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 7907	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4 (R2030* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +8 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 236144	NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)	ABCA4 (L2026P +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 967712	NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer)	ABCA4	Indel (nonsense +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
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 377406	NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)	ABCA4 (Y1858N +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GPathogenic/Likely pathogenic
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 839263	NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)	ABCA4 (L1795V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
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 1524182	NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met)	ABCA4 (V1737M +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GUncertain significance
Select item 99344	NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)	ABCA4 (S1696N +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 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 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 866045	NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)	ABCA4, LOC126805793 (V1589M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 497936	NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met)	ABCA4, LOC126805793 (T1572M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GUncertain significance
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 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 546600	NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)	ABCA4 (L1473M +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +5 more	GConflicting classifications of pathogenicity
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 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 865830	NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)	ABCA4 (Y1139C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GUncertain significance
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 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 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 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 1003784	NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu)	ABCA4 (F1026L +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GUncertain significance
Select item 99174	NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	ABCA4 (T972N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 1023776	NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu)	ABCA4 (R943L +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GUncertain significance
Select item 286835	NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg)	ABCA4 (P940R +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +6 more	GUncertain significance
Select item 866492	NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)	ABCA4 (Q859R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 212727	NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)	ABCA4 (F655C)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 99108	NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)	ABCA4 (R653C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99093	NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
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 849480	NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)	ABCA4 (V598M)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GUncertain significance
Select item 99070	NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	ABCA4 (G550R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +6 more	GPathogenic/Likely pathogenic
Select item 99033	NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	ABCA4 (N380K)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 236077	NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)	ABCA4 (F337L)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GUncertain significance
Select item 265010	NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)	ABCA4 (M280L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 99505	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 968588	NM_000350.3(ABCA4):c.766G>T (p.Val256Leu)	ABCA4 (V256L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 99471	NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)	ABCA4 (R220C)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 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 99310	NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	ABCA4 (I156V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 374737	NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)	ABCA4 (R124C)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1058365	NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)	ABCA4 (R107Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 937179	NM_000350.3(ABCA4):c.303-3C>T	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +4 more	GUncertain significance
Select item 99107	NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)	ABCA4 (G65E)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +5 more	GPathogenic/Likely pathogenic
Select item 99083	NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	ABCA4 (A60V)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 236071	NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)	ABCA4 (C54G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +3 more	GLikely pathogenic

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Items: 63