16822[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	See cases	GPathogenic
Select item 150122	GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	ADD1, ATP5ME +250 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +277 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 155257	GRCh38/hg38 4p16.3(chr4:72555-2689579)x1	LOC129992008, LOC129992009 +175 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	ADD1, ATP5ME +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 more	Copy number loss	See cases	GPathogenic
Select item 147562	GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	ADD1, ATP5ME +271 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 154242	GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1	ADD1, CFAP99 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 149071	GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3	ADD1, ADRA2C +149 more	Copy number gain	See cases	GUncertain significance
Select item 2378588	NM_001366318.2(FAM193A):c.902C>T (p.Ser301Leu)	FAM193A (S301L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322217	NM_001366318.2(FAM193A):c.988G>A (p.Gly330Ser)	FAM193A (G273S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341116	NM_001366318.2(FAM193A):c.1145C>T (p.Ala382Val)	FAM193A (A91V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303194	NM_001366318.2(FAM193A):c.1192A>G (p.Ser398Gly)	FAM193A (S398G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092220	NM_001366318.2(FAM193A):c.1201A>G (p.Thr401Ala)	FAM193A (T344A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262613	NM_001366318.2(FAM193A):c.1223G>A (p.Arg408Lys)	FAM193A (R117K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277332	NM_001366318.2(FAM193A):c.1250G>T (p.Arg417Leu)	FAM193A (R360L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594161	NM_001366318.2(FAM193A):c.1334G>A (p.Arg445His)	FAM193A (R154H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263571	NM_001366318.2(FAM193A):c.1383A>T (p.Glu461Asp)	FAM193A (E170D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092222	NM_001366318.2(FAM193A):c.1405G>A (p.Ala469Thr)	FAM193A (A178T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380050	NM_001366318.2(FAM193A):c.1460G>A (p.Arg487Gln)	FAM193A (R220Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277327	NM_001366318.2(FAM193A):c.1561C>T (p.Pro521Ser)	FAM193A (P230S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277333	NM_001366318.2(FAM193A):c.1718T>A (p.Leu573His)	FAM193A (L282H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317831	NM_001366318.2(FAM193A):c.1733C>T (p.Ser578Leu)	FAM193A (S578L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481033	NM_001366318.2(FAM193A):c.1810A>G (p.Asn604Asp)	FAM193A (N313D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239349	NM_001366318.2(FAM193A):c.1828G>T (p.Val610Leu)	FAM193A (V341L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092202	NM_001366318.2(FAM193A):c.1945G>A (p.Asp649Asn)	FAM193A (D358N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277325	NM_001366318.2(FAM193A):c.1990C>T (p.Pro664Ser)	FAM193A (P664S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277329	NM_001366318.2(FAM193A):c.2011G>A (p.Gly671Arg)	FAM193A (G614R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3277326	NM_001366318.2(FAM193A):c.2035G>A (p.Glu679Lys)	FAM193A (E622K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773677	NM_001366318.2(FAM193A):c.2038A>G (p.Ser680Gly)	FAM193A (S389G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2212410	NM_001366318.2(FAM193A):c.2089G>A (p.Ala697Thr)	FAM193A (A406T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404374	NM_001366318.2(FAM193A):c.2141C>T (p.Thr714Ile)	FAM193A (T445I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557759	NM_001366318.2(FAM193A):c.2147C>T (p.Ser716Phe)	FAM193A (S425F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214711	NM_001366318.2(FAM193A):c.2161G>A (p.Gly721Arg)	FAM193A (G452R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337382	NM_001366318.2(FAM193A):c.2224C>G (p.Leu742Val)	FAM193A (L473V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204463	NM_001366318.2(FAM193A):c.2279G>A (p.Arg760His)	FAM193A (R491H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092204	NM_001366318.2(FAM193A):c.2327G>C (p.Ser776Thr)	FAM193A (S485T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542672	NM_001366318.2(FAM193A):c.2545G>A (p.Gly849Arg)	FAM193A (G792R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381526	NM_001366318.2(FAM193A):c.2686G>A (p.Ala896Thr)	FAM193A (A839T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773678	NM_001366318.2(FAM193A):c.2803+7C>T	FAM193A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3092205	NM_001366318.2(FAM193A):c.2854G>T (p.Ala952Ser)	FAM193A (A661S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092206	NM_001366318.2(FAM193A):c.2884G>T (p.Ala962Ser)	FAM193A (A693S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092207	NM_001366318.2(FAM193A):c.2912C>T (p.Ala971Val)	FAM193A (A680V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092208	NM_001366318.2(FAM193A):c.2981C>T (p.Pro994Leu)	FAM193A (P703L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557182	NM_001366318.2(FAM193A):c.3014A>T (p.Asp1005Val)	FAM193A (D1005V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092209	NM_001366318.2(FAM193A):c.3020G>T (p.Arg1007Leu)	FAM193A (R738L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092210	NM_001366318.2(FAM193A):c.3080C>A (p.Pro1027Gln)	FAM193A (P758Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092211	NM_001366318.2(FAM193A):c.3115C>T (p.Arg1039Cys)	FAM193A (R982C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353552	NM_001366318.2(FAM193A):c.3121G>A (p.Glu1041Lys)	FAM193A (E750K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092212	NM_001366318.2(FAM193A):c.3143A>C (p.Gln1048Pro)	FAM193A (Q779P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222864	NM_001366318.2(FAM193A):c.3400G>A (p.Val1134Ile)	FAM193A (V843I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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