C0031117[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 99113	NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	ABCA4 (P68L)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GPathogenic/Likely pathogenic
Select item 37312	NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)	HINT1 (R37P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor
Select item 14029	NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)	NEFL (P22S)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 162194	NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	IGHMBP2	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 374064	NM_001145809.2(MYH14):c.1945+6G>A	MYH14	Single nucleotide variant (intron variant)	EMG abnormality +7 more	GUncertain significance