HGFAC[gene] - 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 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 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 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 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 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 149071	GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3	ADD1, ADRA2C +149 more	Copy number gain	See cases	GUncertain significance
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 155045	GRCh38/hg38 4p16.3(chr4:3407550-3942201)x1	ADRA2C, DOK7 +19 more	Copy number loss	See cases	GUncertain significance
Select item 3284194	NM_001528.4(HGFAC):c.37C>T (p.Pro13Ser)	HGFAC (P13S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105649	NM_001528.4(HGFAC):c.40C>G (p.Pro14Ala)	HGFAC (P14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105652	NM_001528.4(HGFAC):c.61C>T (p.Leu21Phe)	HGFAC (L21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524178	NM_001528.4(HGFAC):c.64C>T (p.Leu22Phe)	HGFAC (L22F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245725	NM_001528.4(HGFAC):c.74T>A (p.Leu25Gln)	HGFAC (L25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469181	NM_001528.4(HGFAC):c.125C>T (p.Thr42Met)	HGFAC (T42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369143	NM_001528.4(HGFAC):c.152C>T (p.Ala51Val)	HGFAC (A51V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105646	NM_001528.4(HGFAC):c.218C>T (p.Pro73Leu)	HGFAC (P73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105647	NM_001528.4(HGFAC):c.247C>T (p.Leu83Phe)	HGFAC (L83F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654602	NM_001528.4(HGFAC):c.251C>G (p.Pro84Arg)	HGFAC (P84R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3284199	NM_001528.4(HGFAC):c.257C>G (p.Pro86Arg)	HGFAC (P86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233424	NM_001528.4(HGFAC):c.337C>T (p.Arg113Cys)	HGFAC (R113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622842	NM_001528.4(HGFAC):c.338G>A (p.Arg113His)	HGFAC (R113H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105648	NM_001528.4(HGFAC):c.343G>A (p.Gly115Arg)	HGFAC (G115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275716	NM_001528.4(HGFAC):c.371C>T (p.Ser124Leu)	HGFAC (S124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620227	NM_001528.4(HGFAC):c.376G>A (p.Gly126Ser)	HGFAC (G126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569279	NM_001528.4(HGFAC):c.404C>T (p.Thr135Ile)	HGFAC (T135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105650	NM_001528.4(HGFAC):c.420C>A (p.Asp140Glu)	HGFAC (D140E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386300	NM_001528.4(HGFAC):c.421C>T (p.Arg141Trp)	HGFAC (R141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284191	NM_001528.4(HGFAC):c.458C>T (p.Pro153Leu)	HGFAC (P153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654603	NM_001528.4(HGFAC):c.480_495del (p.Leu161fs)	HGFAC (L161fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2295625	NM_001528.4(HGFAC):c.497C>G (p.Ser166Cys)	HGFAC (S166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408005	NM_001528.4(HGFAC):c.512A>G (p.Asn171Ser)	HGFAC (N171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532885	NM_001528.4(HGFAC):c.518G>T (p.Gly173Val)	HGFAC (G173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105651	NM_001528.4(HGFAC):c.533C>A (p.Thr178Asn)	HGFAC (T178N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284193	NM_001528.4(HGFAC):c.542C>T (p.Pro181Leu)	HGFAC (P181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600580	NM_001528.4(HGFAC):c.580G>A (p.Gly194Ser)	HGFAC (G194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595461	NM_001528.4(HGFAC):c.655C>T (p.Arg219Cys)	HGFAC (R219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456432	NM_001528.4(HGFAC):c.662G>A (p.Arg221His)	HGFAC (R221H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528257	NM_001528.4(HGFAC):c.674T>A (p.Val225Glu)	HGFAC (V225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105654	NM_001528.4(HGFAC):c.695G>A (p.Gly232Glu)	HGFAC (G232E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511523	NM_001528.4(HGFAC):c.796G>A (p.Val266Met)	HGFAC (V266M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284197	NM_001528.4(HGFAC):c.827G>A (p.Arg276Gln)	HGFAC (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365112	NM_001528.4(HGFAC):c.854G>A (p.Arg285His)	HGFAC (R285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105655	NM_001528.4(HGFAC):c.884G>A (p.Arg295His)	HGFAC (R295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534053	NM_001528.4(HGFAC):c.889G>T (p.Val297Leu)	HGFAC (V297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611505	NM_001528.4(HGFAC):c.908C>T (p.Ser303Leu)	HGFAC (S303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105658	NM_001528.4(HGFAC):c.937G>A (p.Asp313Asn)	HGFAC (D313N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284200	NM_001528.4(HGFAC):c.970G>C (p.Val324Leu)	HGFAC (V324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367380	NM_001528.4(HGFAC):c.976G>A (p.Ala326Thr)	HGFAC (A326T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614131	NM_001528.4(HGFAC):c.992G>A (p.Gly331Asp)	HGFAC (G331D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105659	NM_001528.4(HGFAC):c.998G>A (p.Gly333Asp)	HGFAC (G333D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341231	NM_001528.4(HGFAC):c.1067C>T (p.Ala356Val)	HGFAC (A356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284198	NM_001528.4(HGFAC):c.1087C>T (p.Arg363Cys)	HGFAC (R363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405758	NM_001528.4(HGFAC):c.1153G>A (p.Glu385Lys)	HGFAC (E385K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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