"PreventionGenetics, part of Exact Sciences"[submitter] AND "C17orf107 - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254903	NM_000080.4(CHRNE):c.917+15C>G	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4B +4 more	GBenign
Select item 323987	NM_000080.4(CHRNE):c.901G>A (p.Val301Met)	C17orf107, CHRNE (V301M)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +5 more	GConflicting classifications of pathogenicity
Select item 715040	NM_000080.4(CHRNE):c.852C>T (p.Thr284=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	CHRNE-related disorder +1 more	GLikely benign
Select item 254902	NM_001145536.2(C17orf107):c.*377GGAG[1]	CHRNE, C17orf107	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323990	NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)	C17orf107, CHRNE (A266V)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2506082	NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)	C17orf107, CHRNE (N202Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 516013	NM_000080.4(CHRNE):c.555C>T (p.Asp185=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +2 more	GBenign/Likely benign
Select item 644872	NM_000080.4(CHRNE):c.520G>A (p.Glu174Lys)	C17orf107, CHRNE (E174K)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 128767	NM_000080.4(CHRNE):c.519C>T (p.Ala173=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +2 more	GBenign
Select item 254900	NM_000080.4(CHRNE):c.500+49C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 254899	NM_000080.4(CHRNE):c.500+39G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 254898	NM_000080.4(CHRNE):c.465C>T (p.Phe155=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1120370	NM_000080.4(CHRNE):c.462C>T (p.Tyr154=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GLikely benign
Select item 254897	NM_000080.4(CHRNE):c.420T>C (p.Pro140=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 128765	NM_000080.4(CHRNE):c.345-7C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +2 more	GBenign
Select item 254896	NM_000080.4(CHRNE):c.344+18C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1657433	NM_000080.4(CHRNE):c.237T>C (p.Asp79=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	CHRNE-related disorder +1 more	GLikely benign
Select item 254895	NM_000080.4(CHRNE):c.235-25C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 254894	NM_000080.4(CHRNE):c.174G>A (p.Thr58=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 534251	NM_000080.4(CHRNE):c.53G>C (p.Gly18Ala)	C17orf107, CHRNE (G18A)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 128768	NM_000080.4(CHRNE):c.53G>T (p.Gly18Val)	C17orf107, CHRNE (G18V)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +2 more	GBenign
Select item 128766	NM_000080.4(CHRNE):c.45C>T (p.Leu15=)	C17orf107, CHRNE	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 705677	NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)	C17orf107, CHRNE (V8A)	Single nucleotide variant (missense variant)	CHRNE-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 254901	NM_000080.4(CHRNE):c.6A>G (p.Ala2=)	C17orf107, CHRNE	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 254888	NM_000080.4(CHRNE):c.-8G>A	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 254887	NM_000080.3(CHRNE):c.-70C>T	C17orf107, CHRNE	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign

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Items: 26