"Illumina Laboratory Services, Illumina"[submitter] AND "C17orf107"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 465865	NM_000080.4(CHRNE):c.918-6C>G	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome +2 more	GBenign/Likely benign
Select item 380910	NM_000080.4(CHRNE):c.918-14T>C	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome +2 more	GConflicting classifications of pathogenicity
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 372325	NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	C17orf107, CHRNE (P302R)	Single nucleotide variant (3 prime UTR variant +1 more)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 323987	NM_000080.4(CHRNE):c.901G>A (p.Val301Met)	C17orf107, CHRNE (V301M)	Single nucleotide variant (3 prime UTR variant +1 more)	CHRNE-related condition +5 more	GConflicting classifications of pathogenicity
Select item 583083	NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)	CHRNE, C17orf107 (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)	Congenital myasthenic syndrome +2 more	GUncertain significance
Select item 323989	NM_000080.4(CHRNE):c.802+7A>C	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +2 more	GConflicting classifications of pathogenicity
Select item 323990	NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)	CHRNE, C17orf107 (A266V)	Single nucleotide variant (3 prime UTR variant +1 more)	CHRNE-related condition +3 more	GConflicting classifications of pathogenicity
Select item 892243	NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg)	C17orf107, CHRNE (P265R)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GConflicting classifications of pathogenicity
Select item 892244	NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser)	C17orf107, CHRNE (A261S)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 323991	NM_000080.4(CHRNE):c.768C>T (p.Gly256=)	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GConflicting classifications of pathogenicity
Select item 323992	NM_000080.4(CHRNE):c.723C>T (p.Leu241=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 568308	NM_000080.4(CHRNE):c.710G>A (p.Arg237His)	CHRNE, C17orf107 (R237H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GUncertain significance
Select item 40228	NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)	C17orf107, CHRNE (R237L)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +4 more	GConflicting classifications of pathogenicity
Select item 534259	NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)	C17orf107, CHRNE (I194T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +6 more	GUncertain significance
Select item 323993	NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser)	C17orf107, CHRNE (G186S)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +2 more	GConflicting classifications of pathogenicity
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 323994	NM_000080.4(CHRNE):c.510G>A (p.Thr170=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 323995	NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)	C17orf107, CHRNE (Q169L)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +5 more	GConflicting classifications of pathogenicity
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 632284	NM_000080.4(CHRNE):c.385_388del (p.Leu129fs)	C17orf107, CHRNE (L129fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome	GUncertain significance
Select item 888828	NM_000080.4(CHRNE):c.360C>T (p.Phe120=)	C17orf107, CHRNE	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GConflicting classifications of pathogenicity
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 323996	NM_000080.4(CHRNE):c.235-5C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 429303	NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)	C17orf107, CHRNE (L63fs)	Duplication (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +3 more	GPathogenic/Likely pathogenic
Select item 323997	NM_000080.4(CHRNE):c.107A>C (p.Asp36Ala)	C17orf107, CHRNE (D36A)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome	GUncertain significance
Select item 282036	NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)	C17orf107, CHRNE (Y35H)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 4A +6 more	GConflicting classifications of pathogenicity
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 323998	NM_000080.4(CHRNE):c.47-11dup	C17orf107, CHRNE	Duplication (3 prime UTR variant +1 more)	Congenital Myasthenic Syndrome, Dominant/Recessive +1 more	GConflicting classifications of pathogenicity
Select item 425118	NM_000080.4(CHRNE):c.46+5G>A	C17orf107, CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 128766	NM_000080.4(CHRNE):c.45C>T (p.Leu15=)	C17orf107, CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +3 more	GBenign
Select item 705677	NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)	C17orf107, CHRNE (V8A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35