"Ambry Genetics"[submitter] AND "C17orf107"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2385549	NM_001145536.2(C17orf107):c.188G>T (p.Gly63Val)	CHRNE, C17orf107 (G63V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247325	NM_001145536.2(C17orf107):c.311G>A (p.Arg104Gln)	CHRNE, C17orf107 (R104Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 583083	NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)	C17orf107, CHRNE (L299P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 323988	NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala)	C17orf107, CHRNE (T274A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2245109	NM_000080.4(CHRNE):c.752G>C (p.Cys251Ser)	CHRNE, C17orf107 (C251S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301070	NM_000080.4(CHRNE):c.746T>G (p.Val249Gly)	C17orf107, CHRNE (V249G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 568308	NM_000080.4(CHRNE):c.710G>A (p.Arg237His)	C17orf107, CHRNE (R237H)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +5 more	GUncertain significance
Select item 965865	NM_000080.4(CHRNE):c.671G>A (p.Gly224Asp)	C17orf107, CHRNE (G224D)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +2 more	GConflicting classifications of pathogenicity
Select item 2043029	NM_000080.4(CHRNE):c.670G>A (p.Gly224Ser)	C17orf107, CHRNE (G224S)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +2 more	GUncertain significance
Select item 968877	NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys)	C17orf107, CHRNE (R216C)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 2516240	NM_000080.4(CHRNE):c.607G>A (p.Gly203Ser)	C17orf107, CHRNE (G203S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545197	NM_000080.4(CHRNE):c.586A>T (p.Thr196Ser)	C17orf107, CHRNE (T196S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 534259	NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)	C17orf107, CHRNE (I194T)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4B +6 more	GUncertain significance
Select item 323993	NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser)	C17orf107, CHRNE (G186S)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2157657	NM_000080.4(CHRNE):c.509C>T (p.Thr170Met)	C17orf107, CHRNE (T170M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 323995	NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)	C17orf107, CHRNE (Q169L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 2269293	NM_000080.4(CHRNE):c.457A>T (p.Thr153Ser)	C17orf107, CHRNE (T153S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2039318	NM_000080.4(CHRNE):c.455T>A (p.Val152Asp)	C17orf107, CHRNE (V152D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2303187	NM_000080.4(CHRNE):c.274T>A (p.Phe92Ile)	CHRNE, C17orf107 (F92I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 705677	NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)	C17orf107, CHRNE (V8A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity

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Items: 20