4043[geneid] - 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 3041339	NM_002337.4(LRPAP1):c.*5A>G	LRPAP1	Single nucleotide variant (3 prime UTR variant +1 more)	LRPAP1-related disorder	GLikely benign
Select item 2322315	NM_002337.4(LRPAP1):c.1069C>T (p.Leu357Phe)	LRPAP1 (L357F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120344	NM_002337.4(LRPAP1):c.1060C>G (p.His354Asp)	LRPAP1 (H354D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595119	NM_002337.4(LRPAP1):c.1057C>T (p.Arg353Trp)	LRPAP1 (R353W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715598	NM_002337.4(LRPAP1):c.989G>A (p.Arg330Gln)	LOC126806953, LRPAP1 (R330Q)	Single nucleotide variant (missense variant +1 more)	LRPAP1-related disorder +1 more	GLikely benign
Select item 3120354	NM_002337.4(LRPAP1):c.947G>A (p.Arg316His)	LOC126806953, LRPAP1 (R316H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120353	NM_002337.4(LRPAP1):c.946C>T (p.Arg316Cys)	LOC126806953, LRPAP1 (R316C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784487	NM_002337.4(LRPAP1):c.939C>T (p.Asp313=)	LOC126806953, LRPAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 65461	NM_002337.4(LRPAP1):c.863_864del (p.Ile288fs)	LOC126806953, LRPAP1 (I288fs)	Deletion (frameshift variant +1 more)	Myopia 23, autosomal recessive	GLikely pathogenic
Select item 2248402	NM_002337.4(LRPAP1):c.831C>A (p.Phe277Leu)	LRPAP1 (F277L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2210564	NM_002337.4(LRPAP1):c.809C>T (p.Thr270Met)	LRPAP1 (T270M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120352	NM_002337.4(LRPAP1):c.805C>T (p.Leu269Phe)	LRPAP1 (L269F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2288449	NM_002337.4(LRPAP1):c.803A>C (p.Asn268Thr)	LRPAP1 (N268T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292807	NM_002337.4(LRPAP1):c.799G>A (p.Ala267Thr)	LRPAP1 (A267T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049703	NM_002337.4(LRPAP1):c.752-9C>A	LRPAP1	Single nucleotide variant (intron variant)	LRPAP1-related disorder	GLikely benign
Select item 3059677	NM_002337.4(LRPAP1):c.750T>C (p.Ala250=)	LRPAP1	Single nucleotide variant (synonymous variant +1 more)	LRPAP1-related disorder	GBenign
Select item 2253488	NM_002337.4(LRPAP1):c.728A>G (p.His243Arg)	LRPAP1 (H243R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526247	NM_002337.4(LRPAP1):c.705_708del (p.Asp236fs)	LRPAP1 (D236fs)	Deletion (frameshift variant +1 more)	Myopia 23, autosomal recessive	GPathogenic
Select item 2446613	NM_002337.4(LRPAP1):c.691A>G (p.Ile231Val)	LRPAP1 (I231V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3120351	NM_002337.4(LRPAP1):c.665C>T (p.Thr222Met)	LRPAP1 (T222M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120350	NM_002337.4(LRPAP1):c.664A>C (p.Thr222Pro)	LRPAP1 (T222P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216868	NM_002337.4(LRPAP1):c.638A>C (p.Lys213Thr)	LRPAP1 (K213T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770708	NM_002337.4(LRPAP1):c.631G>A (p.Asp211Asn)	LRPAP1 (D211N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 791418	NM_002337.4(LRPAP1):c.615C>T (p.Ser205=)	LRPAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 65460	NM_002337.4(LRPAP1):c.605del (p.Asn202fs)	LRPAP1 (N202fs)	Deletion (frameshift variant +1 more)	Myopia 23, autosomal recessive	GPathogenic
Select item 2545470	NM_002337.4(LRPAP1):c.604A>G (p.Asn202Asp)	LRPAP1 (N202D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775946	NM_002337.4(LRPAP1):c.595A>G (p.Ile199Val)	LRPAP1 (I199V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 746871	NM_002337.4(LRPAP1):c.592+10G>A	LRPAP1	Single nucleotide variant (intron variant)	LRPAP1-related disorder +1 more	GBenign/Likely benign
Select item 2446706	NM_002337.4(LRPAP1):c.560A>G (p.Asn187Ser)	LRPAP1 (N187S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2347559	NM_002337.4(LRPAP1):c.552C>A (p.His184Gln)	LRPAP1 (H184Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780455	NM_002337.4(LRPAP1):c.552C>T (p.His184=)	LRPAP1	Single nucleotide variant (synonymous variant +1 more)	LRPAP1-related disorder +1 more	GBenign/Likely benign
Select item 2602816	NM_002337.4(LRPAP1):c.529C>G (p.Leu177Val)	LRPAP1 (L177V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474547	NM_002337.4(LRPAP1):c.499G>A (p.Glu167Lys)	LRPAP1 (E167K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723992	NM_002337.4(LRPAP1):c.498C>T (p.Gly166=)	LRPAP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2242679	NM_002337.4(LRPAP1):c.496G>C (p.Gly166Arg)	LRPAP1 (G166R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721072	NM_002337.4(LRPAP1):c.496G>A (p.Gly166Ser)	LRPAP1 (G166S)	Single nucleotide variant (missense variant +1 more)	LRPAP1-related disorder +1 more	GBenign
Select item 2226643	NM_002337.4(LRPAP1):c.385G>T (p.Asp129Tyr)	LRPAP1 (D129Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367770	NM_002337.4(LRPAP1):c.375C>A (p.Asp125Glu)	LRPAP1 (D125E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161595	NM_002337.4(LRPAP1):c.347A>G (p.Asn116Ser)	LRPAP1 (N116S)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2296878	NM_002337.4(LRPAP1):c.343C>A (p.Leu115Ile)	LRPAP1 (L115I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732263	NM_002337.4(LRPAP1):c.327G>A (p.Ala109=)	LRPAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2335041	NM_002337.4(LRPAP1):c.322G>A (p.Glu108Lys)	LRPAP1 (E108K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120346	NM_002337.4(LRPAP1):c.286C>G (p.Leu96Val)	LRPAP1 (L96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492507	NM_002337.4(LRPAP1):c.240C>A (p.His80Gln)	LRPAP1 (H80Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 190230	NM_002337.4(LRPAP1):c.199del (p.Gln67fs)	LOC129992120, LRPAP1 (Q67fs)	Deletion (frameshift variant)	Myopia 23, autosomal recessive	GPathogenic

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