C3495438[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +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 99398	NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	ABCA4 (R1898H +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +6 more	GConflicting classifications of pathogenicity
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 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)	not specified +7 more	GPathogenic/Likely pathogenic
Select item 99263	NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	ABCA4 (Q1412* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +6 more	GPathogenic
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +9 more	GPathogenic/Likely pathogenic
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +8 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
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 99052	NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	ABCA4 (E471K)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +6 more	GConflicting classifications of pathogenicity
Select item 99505	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	ABCA4	Single nucleotide variant (synonymous variant)	Stargardt disease +7 more	GPathogenic/Likely pathogenic
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +12 more	GPathogenic/Likely pathogenic