C17orf107[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 642050	NC_000017.10:g.(?_4802011)_(4850135_?)dup	LOC130060040, LOC130060041 +17 more	Duplication	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 243031	NM_000080.4(CHRNE):c.1327del	MINK1, C17orf107 +1 more	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 4B +4 more	GPathogenic
Select item 1966721	NM_000080.4(CHRNE):c.960G>A (p.Met320Ile)	C17orf107, CHRNE (M320I)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 2700157	NM_000080.4(CHRNE):c.957C>A (p.Val319=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1107634	NM_000080.4(CHRNE):c.957C>T (p.Val319=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GLikely benign
Select item 2035396	NM_000080.4(CHRNE):c.951_954del (p.Ile318fs)	C17orf107, CHRNE (I318fs)	Deletion (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1082097	NM_000080.4(CHRNE):c.951C>G (p.Leu317=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 760486	NM_000080.4(CHRNE):c.951C>T (p.Leu317=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2752398	NM_000080.4(CHRNE):c.949C>G (p.Leu317Val)	C17orf107, CHRNE (L317V)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2094287	NM_000080.4(CHRNE):c.948G>C (p.Thr316=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1092140	NM_000080.4(CHRNE):c.948G>T (p.Thr316=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 729924	NM_000080.4(CHRNE):c.948G>A (p.Thr316=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1418207	NM_000080.4(CHRNE):c.947C>T (p.Thr316Met)	C17orf107, CHRNE (T316M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 766031	NM_000080.4(CHRNE):c.945C>T (p.Ala315=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 449451	NM_000080.4(CHRNE):c.934_936del (p.Met312del)	C17orf107, CHRNE (M312del)	Deletion (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +3 more	GPathogenic/Likely pathogenic
Select item 2858052	NM_000080.4(CHRNE):c.933C>G (p.Val311=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2680782	NM_000080.4(CHRNE):c.929del (p.Phe310fs)	C17orf107, CHRNE (F310fs)	Deletion (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 2909410	NM_000080.4(CHRNE):c.924T>G (p.Leu308=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2680804	NM_000080.4(CHRNE):c.922del (p.Ile309fs)	C17orf107, CHRNE (I309fs)	Deletion (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 641378	NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser)	C17orf107, CHRNE (R306S)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 582326	NM_000080.4(CHRNE):c.918-1G>A	CHRNE, C17orf107	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1148810	NM_000080.4(CHRNE):c.918-4T>C	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1083133	NM_000080.4(CHRNE):c.918-5C>T	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2786496	NM_000080.4(CHRNE):c.918-6C>T	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
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 1563991	NM_000080.4(CHRNE):c.918-8C>G	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 751525	NM_000080.4(CHRNE):c.918-8C>T	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1673997	NM_000080.4(CHRNE):c.918-9G>A	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2172991	NM_000080.4(CHRNE):c.918-10G>C	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2910691	NM_000080.4(CHRNE):c.918-12C>T	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2186299	NM_000080.4(CHRNE):c.918-13C>T	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2826301	NM_000080.4(CHRNE):c.918-14T>G	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely 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 2901521	NM_000080.4(CHRNE):c.918-16C>T	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2917156	NM_000080.4(CHRNE):c.918-17C>T	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2874730	NM_000080.4(CHRNE):c.918-17C>A	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1671177	NM_000080.4(CHRNE):c.918-17C>G	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2964927	NM_000080.4(CHRNE):c.918-19T>C	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1212456	NM_000080.4(CHRNE):c.918-69A>G	C17orf107, CHRNE +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1209342	NM_000080.4(CHRNE):c.918-118C>T	C17orf107, CHRNE +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3341797	NM_001145536.2(C17orf107):c.12C>A (p.Thr4=)	C17orf107, CHRNE +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1183339	NM_000080.4(CHRNE):c.918-268C>T	C17orf107, CHRNE +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2385549	NM_001145536.2(C17orf107):c.188G>T (p.Gly63Val)	C17orf107, CHRNE (G63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247325	NM_001145536.2(C17orf107):c.311G>A (p.Arg104Gln)	C17orf107, CHRNE (R104Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701303	NM_001145536.2(C17orf107):c.342C>T (p.Asp114=)	C17orf107, CHRNE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 930868	NM_000080.4(CHRNE):c.917+271C>G	C17orf107, CHRNE (G188R)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 4B	GUncertain significance
Select item 1196336	NM_000080.4(CHRNE):c.917+94C>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1193331	NM_000080.4(CHRNE):c.917+72G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2892875	NM_000080.4(CHRNE):c.917+20G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2836136	NM_000080.4(CHRNE):c.917+19C>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2692753	NM_000080.4(CHRNE):c.917+18G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1629737	NM_000080.4(CHRNE):c.917+17dup	C17orf107, CHRNE	Duplication (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GBenign
Select item 2854919	NM_000080.4(CHRNE):c.917+17C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1969572	NM_000080.4(CHRNE):c.917+17C>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2989384	NM_000080.4(CHRNE):c.917+16C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3002869	NM_000080.4(CHRNE):c.917+15C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 254903	NM_000080.4(CHRNE):c.917+15C>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +5 more	GBenign
Select item 2917214	NM_000080.4(CHRNE):c.917+13C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1138640	NM_000080.4(CHRNE):c.917+9G>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1096019	NM_000080.4(CHRNE):c.917+9G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1590062	NM_000080.4(CHRNE):c.917+8C>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1112702	NM_000080.4(CHRNE):c.917+8C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2757684	NM_000080.4(CHRNE):c.917+7C>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 760589	NM_000080.4(CHRNE):c.917+7C>T	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1441274	NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)	C17orf107, CHRNE (R306M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1180746	NM_000080.4(CHRNE):c.917G>C (p.Arg306Thr)	C17orf107, CHRNE (R306T)	Single nucleotide variant (3 prime UTR variant +1 more)	Abnormality of the musculature	GLikely pathogenic
Select item 2680781	NM_000080.4(CHRNE):c.916A>T (p.Arg306Trp)	C17orf107, CHRNE (R306W)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 992274	NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly)	C17orf107, CHRNE (R306G)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome	GPathogenic
Select item 2581512	NM_000080.4(CHRNE):c.914_915delinsTT (p.Gly305Val)	C17orf107, CHRNE (G305V)	Indel (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1566759	NM_000080.4(CHRNE):c.915C>A (p.Gly305=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 392952	NM_000080.4(CHRNE):c.914G>A (p.Gly305Asp)	C17orf107, CHRNE (G305D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2033306	NM_000080.4(CHRNE):c.909C>G (p.Leu303=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1427071	NM_000080.4(CHRNE):c.906G>T (p.Pro302=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1117096	NM_000080.4(CHRNE):c.906G>A (p.Pro302=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 372325	NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	CHRNE, C17orf107 (P302R)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +4 more	GPathogenic/Likely pathogenic
Select item 285424	NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu)	C17orf107, CHRNE (P302L)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GConflicting classifications of pathogenicity
Select item 2440054	NM_000080.4(CHRNE):c.904C>T (p.Pro302Ser)	C17orf107, CHRNE (P302S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1066048	NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala)	C17orf107, CHRNE (P302A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 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)	Congenital myasthenic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1562411	NM_000080.4(CHRNE):c.900C>T (p.Ser300=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1041465	NM_000080.4(CHRNE):c.899G>C (p.Ser300Thr)	CHRNE, C17orf107 (S300T)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1118309	NM_000080.4(CHRNE):c.897G>A (p.Leu299=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 583083	NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)	C17orf107, CHRNE (L299P)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +5 more	GUncertain significance
Select item 1673138	NM_000080.4(CHRNE):c.895C>T (p.Leu299=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1155451	NM_000080.4(CHRNE):c.894T>G (p.Ser298=)	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 40227	NM_000080.4(CHRNE):c.892_894del (p.Ser298del)	C17orf107, CHRNE (S298del)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 2680795	NM_000080.4(CHRNE):c.891_892insCTCTGGGATT (p.Ser298fs)	C17orf107, CHRNE (S298fs)	Insertion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic

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