28709[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 155150	GRCh38/hg38 4p16.3(chr4:36424-1562150)x1	ATP5ME, CPLX1 +91 more	Copy number loss	See cases	GUncertain significance
Select item 155105	GRCh38/hg38 4p16.3(chr4:36424-1956092)x1	SLC49A3, SPON2 +124 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 148311	GRCh38/hg38 4p16.3(chr4:36424-1581567)x3	ATP5ME, CPLX1 +95 more	Copy number gain	See cases	GLikely pathogenic
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 147744	GRCh38/hg38 4p16.3(chr4:51519-1405362)x1	ATP5ME, CPLX1 +90 more	Copy number loss	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 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	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 153530	GRCh38/hg38 4p16.3(chr4:68453-1997458)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 161057	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 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 150613	GRCh38/hg38 4p16.3(chr4:72555-1581567)x1	ATP5ME, CPLX1 +95 more	Copy number loss	See cases	GUncertain significance
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 148049	GRCh38/hg38 4p16.3(chr4:72555-1153038)x1	ATP5ME, CPLX1 +58 more	Copy number loss	See cases	GUncertain significance
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 57903	GRCh38/hg38 4p16.3(chr4:72555-2325477)x1	ATP5ME, CPLX1 +152 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 57823	GRCh38/hg38 4p16.3(chr4:72555-1405362)x3	ATP5ME, CPLX1 +90 more	Copy number gain	See cases	GUncertain significance
Select item 57159	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 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 59418	GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59417	GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	ATP5ME, CPLX1 +124 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 59419	GRCh38/hg38 4p16.3(chr4:336191-2213205)x1	ATP5ME, CPLX1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146344	GRCh38/hg38 4p16.3(chr4:620566-1405362)x3	ATP5ME, CPLX1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 2593640	NM_032326.4(TMEM175):c.5C>G (p.Ser2Cys)	TMEM175 (S2C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3178971	NM_032326.4(TMEM175):c.14G>A (p.Arg5Gln)	TMEM175 (R5Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2538130	NM_032326.4(TMEM175):c.49T>G (p.Cys17Gly)	TMEM175 (C17G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2375458	NM_032326.4(TMEM175):c.63G>C (p.Arg21Ser)	TMEM175 (R21S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2384009	NM_032326.4(TMEM175):c.76G>A (p.Ala26Thr)	TMEM175 (A26T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2222842	NM_032326.4(TMEM175):c.173C>T (p.Thr58Met)	TMEM175 (T58M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1178472	NM_032326.4(TMEM175):c.194A>C (p.Gln65Pro)	TMEM175 (Q65P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2366295	NM_032326.4(TMEM175):c.238G>A (p.Val80Ile)	TMEM175 (V80I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2348694	NM_032326.4(TMEM175):c.259A>C (p.Ile87Leu)	TMEM175 (I87L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398133	NM_032326.4(TMEM175):c.268G>A (p.Val90Met)	TMEM175 (V90M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369645	NM_032326.4(TMEM175):c.313A>G (p.Thr105Ala)	TMEM175 (T105A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178972	NM_032326.4(TMEM175):c.319G>A (p.Asp107Asn)	TMEM175 (D107N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067590	NM_032326.4(TMEM175):c.359T>A (p.Ile120Asn)	TMEM175 (I120N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606267	NM_032326.4(TMEM175):c.383C>T (p.Ser128Leu)	TMEM175 (S128L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060771	NM_032326.4(TMEM175):c.450T>C (p.Ile150=)	TMEM175	Single nucleotide variant (synonymous variant)	TMEM175-related disorder	GBenign
Select item 3178973	NM_032326.4(TMEM175):c.452G>C (p.Gly151Ala)	TMEM175 (G35A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178974	NM_032326.4(TMEM175):c.467T>C (p.Leu156Pro)	TMEM175 (L74P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592717	NM_032326.4(TMEM175):c.578C>T (p.Pro193Leu)	TMEM175 (P77L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361659	NM_032326.4(TMEM175):c.649G>A (p.Val217Ile)	TMEM175 (V101I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469868	NM_032326.4(TMEM175):c.718C>T (p.Pro240Ser)	TMEM175 (P240S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411966	NM_032326.4(TMEM175):c.733G>C (p.Val245Leu)	TMEM175 (V129L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274164	NM_032326.4(TMEM175):c.823C>T (p.Leu275Phe)	TMEM175 (L159F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252708	NM_032326.4(TMEM175):c.844G>A (p.Glu282Lys)	TMEM175 (E282K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067237	NM_032326.4(TMEM175):c.850A>G (p.Asn284Asp)	TMEM175 (N168D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2304648	NM_032326.4(TMEM175):c.853G>A (p.Val285Ile)	TMEM175 (V203I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732588	NM_032326.4(TMEM175):c.864C>T (p.Pro288=)	TMEM175	Single nucleotide variant (synonymous variant)	TMEM175-related disorder +1 more	GBenign/Likely benign
Select item 2467423	NM_032326.4(TMEM175):c.913G>A (p.Ala305Thr)	TMEM175 (A305T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324861	NM_032326.4(TMEM175):c.925C>T (p.Arg309Cys)	TMEM175 (R193C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412136	NM_032326.4(TMEM175):c.935C>A (p.Ala312Glu)	TMEM175 (A196E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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