23114[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 996994	NM_001005388.3(NFASC):c.-91+5855A>G	NFASC	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 2434342	NM_001005388.3(NFASC):c.-90-4920C>T	NFASC	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 1701120	NM_001005388.3(NFASC):c.18G>A (p.Pro6=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2613546	NM_001005388.3(NFASC):c.20C>T (p.Pro7Leu)	NFASC (P7L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1805234	NM_001005388.3(NFASC):c.22C>T (p.Pro8Ser)	NFASC (P8S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1810473	NM_001005388.3(NFASC):c.67G>A (p.Gly23Arg)	NFASC (G23R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2535566	NM_001005388.3(NFASC):c.85A>G (p.Met29Val)	NFASC (M29V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3195928	NM_001005388.3(NFASC):c.157G>A (p.Val53Met)	NFASC (V47M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3299467	NM_001005388.3(NFASC):c.170A>G (p.Asp57Gly)	NFASC (D57G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582185	NM_001005388.3(NFASC):c.214A>G (p.Ser72Gly)	NFASC (S66G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1325900	NM_001005388.3(NFASC):c.215+14A>G	NFASC	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction +1 more	GBenign
Select item 2639835	NM_001005388.3(NFASC):c.252C>T (p.Ile84=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2258570	NM_001005388.3(NFASC):c.263C>T (p.Pro88Leu)	NFASC (P88L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593157	NM_001005388.3(NFASC):c.311G>A (p.Arg104His)	NFASC (R104H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485039	NM_001005388.3(NFASC):c.325C>A (p.Pro109Thr)	NFASC (P103T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509360	NM_001005388.3(NFASC):c.332A>G (p.Glu111Gly)	NFASC (E111G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235072	NM_001005388.3(NFASC):c.376A>G (p.Thr126Ala)	NFASC (T126A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504334	NM_001005388.3(NFASC):c.377C>T (p.Thr126Met)	NFASC (T120M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639836	NM_001005388.3(NFASC):c.378G>A (p.Thr126=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2260759	NM_001005388.3(NFASC):c.418C>T (p.Pro140Ser)	NFASC (P134S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 709848	NM_001005388.3(NFASC):c.476C>T (p.Thr159Met)	NFASC (T159M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 719373	NM_001005388.3(NFASC):c.495G>A (p.Pro165=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3236445	NM_001005388.3(NFASC):c.526A>G (p.Met176Val)	NFASC (M170V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 3039896	NM_001005388.3(NFASC):c.536-4A>G	NFASC	Single nucleotide variant (intron variant)	NFASC-related disorder	GLikely benign
Select item 3196050	NM_001005388.3(NFASC):c.563G>A (p.Arg188His)	NFASC (R182H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3025281	NM_001005388.3(NFASC):c.582C>T (p.Asn194=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3196052	NM_001005388.3(NFASC):c.621G>A (p.Met207Ile)	NFASC (M207I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3025514	NM_001005388.3(NFASC):c.726A>G (p.Arg242=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617391	NM_001005388.3(NFASC):c.734G>C (p.Ser245Thr)	NFASC (S239T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300755	NM_001005388.3(NFASC):c.757G>A (p.Ala253Thr)	NFASC (A253T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2397496	NM_001005388.3(NFASC):c.778C>T (p.Arg260Cys)	NFASC (R254C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297540	NM_001005388.3(NFASC):c.779G>A (p.Arg260His)	NFASC (R254H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229726	NM_001005388.3(NFASC):c.786G>A (p.Met262Ile)	NFASC (M262I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3045816	NM_001005388.3(NFASC):c.813C>T (p.Ser271=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	NFASC-related disorder	GLikely benign
Select item 3043224	NM_001005388.3(NFASC):c.819C>G (p.Val273=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	NFASC-related disorder	GLikely benign
Select item 1723741	NM_001005388.3(NFASC):c.859C>T (p.Leu287Phe)	NFASC (L281F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2504489	NM_001005388.3(NFASC):c.860T>C (p.Leu287Pro)	NFASC (L281P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1803529	NM_001005388.3(NFASC):c.878A>C (p.Lys293Thr)	NFASC (K287T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252339	NM_001005388.3(NFASC):c.902T>A (p.Leu301Gln)	NFASC (L295Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2381114	NM_001005388.3(NFASC):c.983C>T (p.Thr328Met)	NFASC (T328M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377150	NM_001005388.3(NFASC):c.989C>T (p.Ser330Leu)	NFASC (S324L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 784969	NM_001005388.3(NFASC):c.1023C>T (p.Asp341=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 620655	NM_001005388.3(NFASC):c.1076G>C (p.Arg359Pro)	NFASC (R370P +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GPathogenic
Select item 2342089	NM_001005388.3(NFASC):c.1172A>G (p.Asp391Gly)	NFASC (D402G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522553	NM_001005388.3(NFASC):c.1186C>T (p.Arg396Trp)	NFASC (R407W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516139	NM_001005388.3(NFASC):c.1235A>G (p.Asn412Ser)	NFASC (N406S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 722693	NM_001005388.3(NFASC):c.1260C>T (p.Asn420=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1325901	NM_001005388.3(NFASC):c.1280-22A>T	NFASC	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction +1 more	GBenign
Select item 3299471	NM_001005388.3(NFASC):c.1282G>A (p.Val428Met)	NFASC (V428M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1701121	NM_001005388.3(NFASC):c.1282G>T (p.Val428Leu)	NFASC (V422L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443359	NM_001005388.3(NFASC):c.1291C>T (p.Arg431Trp)	NFASC (R425W +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 2550125	NM_001005388.3(NFASC):c.1301C>T (p.Ser434Leu)	NFASC (S445L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3299460	NM_001005388.3(NFASC):c.1306C>T (p.Arg436Trp)	NFASC (R436W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2532795	NM_001005388.3(NFASC):c.1307G>A (p.Arg436Gln)	NFASC (R447Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3037598	NM_001005388.3(NFASC):c.1335C>T (p.Tyr445=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	NFASC-related disorder	GBenign
Select item 2239624	NM_001005388.3(NFASC):c.1339C>T (p.Arg447Trp)	NFASC (R447W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3195915	NM_001005388.3(NFASC):c.1340G>A (p.Arg447Gln)	NFASC (R447Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529961	NM_001005388.3(NFASC):c.1345C>T (p.Arg449Trp)	NFASC (R443W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1723761	NM_001005388.3(NFASC):c.1346G>A (p.Arg449Gln)	NFASC (R443Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2296423	NM_001005388.3(NFASC):c.1438G>A (p.Val480Ile)	NFASC (V474I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777984	NM_001005388.3(NFASC):c.1509C>T (p.Ala503=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1810474	NM_001005388.3(NFASC):c.1543C>T (p.Arg515Cys)	NFASC (R509C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1325902	NM_001005388.3(NFASC):c.1554C>A (p.Val518=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction +1 more	GBenign
Select item 3299465	NM_001005388.3(NFASC):c.1562C>T (p.Pro521Leu)	NFASC (P515L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1303304	NM_001005388.3(NFASC):c.1564A>G (p.Thr522Ala)	NFASC (T516A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3042919	NM_001005388.3(NFASC):c.1577G>A (p.Arg526Gln)	NFASC (R520Q +2 more)	Single nucleotide variant (missense variant +1 more)	NFASC-related disorder	GLikely benign
Select item 3195933	NM_001005388.3(NFASC):c.1585G>A (p.Glu529Lys)	NFASC (E523K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224398	NM_001005388.3(NFASC):c.1594G>T (p.Val532Leu)	NFASC (V543L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 723068	NM_001005388.3(NFASC):c.1601G>A (p.Arg534Lys)	NFASC (R545K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723069	NM_001005388.3(NFASC):c.1614G>A (p.Thr538=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3299469	NM_001005388.3(NFASC):c.1630C>T (p.Arg544Trp)	NFASC (R538W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2434343	NM_001005388.3(NFASC):c.1673T>A (p.Leu558Gln)	NFASC (L552Q +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 2441922	NM_001005388.3(NFASC):c.1688C>T (p.Pro563Leu)	NFASC (P557L +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 723070	NM_001005388.3(NFASC):c.1696A>G (p.Ile566Val)	NFASC (I560V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723071	NM_001005388.3(NFASC):c.1722C>T (p.Asp574=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1694544	NM_001005388.3(NFASC):c.1779C>T (p.Val593=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3299464	NM_001005388.3(NFASC):c.1780G>A (p.Ala594Thr)	NFASC (A588T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2599354	NM_001005388.3(NFASC):c.1789G>A (p.Glu597Lys)	NFASC (E608K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1701122	NM_001005388.3(NFASC):c.1802A>T (p.Asp601Val)	NFASC (D595V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2390047	NM_001005388.3(NFASC):c.1825G>A (p.Val609Met)	NFASC (V620M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3055326	NM_001005388.3(NFASC):c.1831+11A>G	NFASC	Single nucleotide variant (synonymous variant +2 more)	NFASC-related disorder	GBenign
Select item 3299456	NM_001005388.3(NFASC):c.1847C>A (p.Pro616Gln)	NFASC (P616Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639837	NM_001005388.3(NFASC):c.1879C>T (p.Arg627Trp)	NFASC (R623W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479822	NM_001005388.3(NFASC):c.1906C>G (p.Leu636Val)	NFASC (L632V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639838	NM_001005388.3(NFASC):c.1912G>A (p.Asp638Asn)	NFASC (D634N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3037351	NM_001005388.3(NFASC):c.1950C>T (p.Pro650=)	NFASC	Single nucleotide variant (synonymous variant)	NFASC-related disorder	GLikely benign
Select item 2434341	NM_001005388.3(NFASC):c.1963A>G (p.Asn655Asp)	NFASC (N651D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985555	NM_001005388.3(NFASC):c.1978+1G>A	NFASC	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2160274	NM_001005388.3(NFASC):c.1987G>A (p.Val663Ile)	NFASC (V674I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 996990	NM_001005388.3(NFASC):c.2012A>G (p.Gln671Arg)	NFASC (Q667R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 2639839	NM_001005388.3(NFASC):c.2043C>T (p.Tyr681=)	NFASC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3195955	NM_001005388.3(NFASC):c.2044C>T (p.Pro682Ser)	NFASC (P693S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372185	NM_001005388.3(NFASC):c.2053G>A (p.Val685Ile)	NFASC (V681I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639840	NM_001005388.3(NFASC):c.2082G>A (p.Pro694=)	NFASC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3299470	NM_001005388.3(NFASC):c.2084A>G (p.Tyr695Cys)	NFASC (Y691C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299458	NM_001005388.3(NFASC):c.2147C>T (p.Pro716Leu)	NFASC (P712L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1247572	NM_001005388.3(NFASC):c.2148A>G (p.Pro716=)	NFASC	Single nucleotide variant (synonymous variant)	not provided	GBenign

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