9215[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59057	GRCh38/hg38 22q12.3(chr22:32940883-33084286)x3	LARGE1, LOC125446220 +1 more	Copy number gain	See cases	GUncertain significance
Select item 341411	NM_133642.5(LARGE1):c.*1235A>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GLikely benign
Select item 902760	NM_133642.5(LARGE1):c.*1229G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341412	NM_133642.5(LARGE1):c.*1201A>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 341413	NM_133642.5(LARGE1):c.*998A>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 900197	NM_133642.5(LARGE1):c.*995T>C	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 900198	NM_133642.5(LARGE1):c.*969G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341414	NM_133642.5(LARGE1):c.*921C>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 341415	NM_133642.5(LARGE1):c.*856G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 341416	NM_133642.5(LARGE1):c.*849C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341417	NM_133642.5(LARGE1):c.*833A>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341418	NM_133642.5(LARGE1):c.823_824dup	LARGE1	Duplication (3 prime UTR variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 341419	NM_133642.5(LARGE1):c.*798G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341420	NM_133642.5(LARGE1):c.*796C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GLikely benign
Select item 341421	NM_133642.5(LARGE1):c.*770A>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 341422	NM_133642.5(LARGE1):c.*740A>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 901908	NM_133642.5(LARGE1):c.*699G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 902818	NM_133642.5(LARGE1):c.*639T>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341423	NM_133642.5(LARGE1):c.*580C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 902819	NM_133642.5(LARGE1):c.*566G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341424	NM_133642.5(LARGE1):c.*501T>C	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341425	NM_133642.5(LARGE1):c.*499G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341426	NM_133642.5(LARGE1):c.*479A>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341427	NM_133642.5(LARGE1):c.*455C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341428	NM_133642.5(LARGE1):c.*207G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GBenign/Likely benign
Select item 901423	NM_133642.5(LARGE1):c.*186C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 901424	NM_133642.5(LARGE1):c.*155C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341429	NM_133642.5(LARGE1):c.*154C>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GBenign
Select item 341430	NM_133642.5(LARGE1):c.*100C>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 2911509	NM_133642.5(LARGE1):c.2271G>A (p.Ter757=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1976181	NM_133642.5(LARGE1):c.2261ACA[1] (p.Asn755del)	LARGE1 (N453del +4 more)	Microsatellite (inframe_deletion)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 1039228	NM_133642.5(LARGE1):c.2264A>G (p.Asn755Ser)	LARGE1 (N706S +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 2711007	NM_133642.5(LARGE1):c.2262C>T (p.Asn754=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 593861	NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys)	LARGE1 (E753K +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 1430579	NM_133642.5(LARGE1):c.2256C>A (p.Ala752=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 703381	NM_133642.5(LARGE1):c.2256C>T (p.Ala752=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 162585	NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly)	LARGE1 (A752G +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 2165594	NM_133642.5(LARGE1):c.2253A>G (p.Thr751=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1899773	NM_133642.5(LARGE1):c.2247T>C (p.Tyr749=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1016719	NM_133642.5(LARGE1):c.2243A>G (p.Lys748Arg)	LARGE1 (K446R +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 1056498	NM_133642.5(LARGE1):c.2234C>A (p.Ala745Asp)	LARGE1 (A443D +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 1029891	NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp)	LARGE1 (G542D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1110828	NM_133642.5(LARGE1):c.2226C>T (p.Tyr742=)	LARGE1	Single nucleotide variant (synonymous variant)	LARGE1-related disorder +1 more	GLikely benign
Select item 1022064	NM_133642.5(LARGE1):c.2222G>A (p.Arg741His)	LARGE1 (R439H +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 2202760	NM_133642.5(LARGE1):c.2221C>T (p.Arg741Cys)	LARGE1 (R540C +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 2416427	NM_133642.5(LARGE1):c.2219G>A (p.Arg740His)	LARGE1 (R438H +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 668696	NM_133642.5(LARGE1):c.2217C>G (p.Ser739=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 211370	NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr)	LARGE1 (M738T +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 901972	NM_133642.5(LARGE1):c.2212A>G (p.Met738Val)	LARGE1 (M537V +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341431	NM_133642.5(LARGE1):c.2208G>A (p.Gln736=)	LARGE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1356478	NM_133642.5(LARGE1):c.2206C>G (p.Gln736Glu)	LARGE1 (Q684E +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 2818602	NM_133642.5(LARGE1):c.2196A>G (p.Glu732=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2709552	NM_133642.5(LARGE1):c.2190C>T (p.Leu730=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2083682	NM_133642.5(LARGE1):c.2181C>G (p.Leu727=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 837660	NM_133642.5(LARGE1):c.2175C>G (p.Ile725Met)	LARGE1 (I524M +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 1394788	NM_133642.5(LARGE1):c.2171G>A (p.Arg724His)	LARGE1 (R675H +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 2308102	NM_133642.5(LARGE1):c.2170C>G (p.Arg724Gly)	LARGE1 (R523G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1577211	NM_133642.5(LARGE1):c.2169C>T (p.Tyr723=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2875605	NM_133642.5(LARGE1):c.2166A>G (p.Gln722=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2433398	NM_133642.5(LARGE1):c.2162A>G (p.Lys721Arg)	LARGE1 (K419R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977623	NM_133642.5(LARGE1):c.2160C>T (p.Asn720=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 842500	NM_133642.5(LARGE1):c.2153G>C (p.Arg718Pro)	LARGE1 (R666P +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 2881328	NM_133642.5(LARGE1):c.2152C>T (p.Arg718Cys)	LARGE1 (R416C +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 3064864	NM_133642.5(LARGE1):c.2151C>G (p.Phe717Leu)	LARGE1 (F415L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757981	NM_133642.5(LARGE1):c.2148G>A (p.Lys716=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1161355	NM_133642.5(LARGE1):c.2142T>C (p.Ile714=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1897160	NM_133642.5(LARGE1):c.2139C>T (p.Asp713=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 711209	NM_133642.5(LARGE1):c.2136C>T (p.Phe712=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2849582	NM_133642.5(LARGE1):c.2133C>T (p.Ser711=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2202620	NM_133642.5(LARGE1):c.2130C>T (p.Pro710=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2433401	NM_133642.5(LARGE1):c.2120C>T (p.Pro707Leu)	LARGE1 (P405L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143194	NM_133642.5(LARGE1):c.2119C>G (p.Pro707Ala)	LARGE1 (P405A +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 2231856	NM_133642.5(LARGE1):c.2116A>G (p.Met706Val)	LARGE1 (M505V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433407	NM_133642.5(LARGE1):c.2105A>T (p.Tyr702Phe)	LARGE1 (Y400F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001647	NM_133642.5(LARGE1):c.2082_2105del (p.Glu694_Tyr702delinsAsp)	LARGE1	Deletion (inframe_indel)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 95172	NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GBenign/Likely benign
Select item 2284040	NM_133642.5(LARGE1):c.2099A>G (p.Asn700Ser)	LARGE1 (N398S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2868140	NM_133642.5(LARGE1):c.2097C>T (p.Pro699=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1110935	NM_133642.5(LARGE1):c.2091G>A (p.Val697=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 684425	NM_133642.5(LARGE1):c.2089G>T (p.Val697Leu)	LARGE1 (V697L +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 464473	NM_133642.5(LARGE1):c.2087T>C (p.Ile696Thr)	LARGE1 (I696T +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 1638648	NM_133642.5(LARGE1):c.2079T>C (p.Tyr693=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1989441	NM_133642.5(LARGE1):c.2078A>G (p.Tyr693Cys)	LARGE1 (Y492C +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 1531101	NM_133642.5(LARGE1):c.2074-3del	LARGE1	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2853739	NM_133642.5(LARGE1):c.2074-4C>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1455099	NM_133642.5(LARGE1):c.2074-6T>C	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2103710	NM_133642.5(LARGE1):c.2074-7C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1122201	NM_133642.5(LARGE1):c.2074-8T>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1997821	NM_133642.5(LARGE1):c.2074-11T>C	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1999039	NM_133642.5(LARGE1):c.2074-12G>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2123265	NM_133642.5(LARGE1):c.2074-16T>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2867128	NM_133642.5(LARGE1):c.2074-18G>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 2761489	NM_133642.5(LARGE1):c.2074-18G>C	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1627806	NM_133642.5(LARGE1):c.2074-18G>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6	GLikely benign
Select item 1253448	NM_133642.5(LARGE1):c.2074-69C>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GBenign

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