4009[geneid] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 59374	GRCh38/hg38 1q23.3-24.1(chr1:164547546-165689403)x1	ALDH9A1, LMX1A +28 more	Copy number loss	See cases	GUncertain significance
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 517667	NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)	LMX1A (I369T)	Single nucleotide variant (missense variant)	Autosomal-Recessive Hereditary Hearing Impairment +2 more	GConflicting classifications of pathogenicity
Select item 2221388	NM_177398.4(LMX1A):c.1093G>A (p.Val365Met)	LMX1A (V365M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544641	NM_177398.4(LMX1A):c.1060G>A (p.Ala354Thr)	LMX1A (A354T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1294826	NM_177398.4(LMX1A):c.1050T>C (p.Asp350=)	LMX1A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 7 +1 more	GBenign
Select item 2546307	NM_177398.4(LMX1A):c.1025A>G (p.Asp342Gly)	LMX1A (D342G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493090	NM_177398.4(LMX1A):c.1021G>C (p.Asp341His)	LMX1A (D341H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525464	NM_177398.4(LMX1A):c.994G>A (p.Glu332Lys)	LMX1A (E332K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1236257	NM_177398.4(LMX1A):c.988+142G>A	LMX1A, LMX1A-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777953	NM_177398.4(LMX1A):c.951C>T (p.Thr317=)	LMX1A, LMX1A-AS2	Single nucleotide variant (synonymous variant)	LMX1A-related condition +1 more	GBenign
Select item 2636020	NM_177398.4(LMX1A):c.938G>A (p.Arg313Gln)	LMX1A, LMX1A-AS2 (R313Q)	Single nucleotide variant (missense variant)	LMX1A-related condition	GUncertain significance
Select item 2503455	NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)	LMX1A, LMX1A-AS2 (R313*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 7	GLikely pathogenic
Select item 2213477	NM_177398.4(LMX1A):c.898C>A (p.Leu300Met)	LMX1A, LMX1A-AS2 (L300M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048621	NM_177398.4(LMX1A):c.883A>C (p.Thr295Pro)	LMX1A, LMX1A-AS2 (T295P)	Single nucleotide variant (missense variant)	LMX1A-related condition	GLikely benign
Select item 2433492	NM_177398.4(LMX1A):c.874G>A (p.Ala292Thr)	LMX1A, LMX1A-AS2 (A292T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GUncertain significance
Select item 2310750	NM_177398.4(LMX1A):c.872C>T (p.Thr291Met)	LMX1A, LMX1A-AS2 (T291M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1294822	NM_177398.4(LMX1A):c.818-103C>T	LMX1A, LMX1A-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294821	NM_177398.4(LMX1A):c.817+130A>G	LMX1A, LMX1A-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3029574	NM_177398.4(LMX1A):c.771GCA[6] (p.Gln262_Asp263insGln)	LMX1A, LMX1A-AS2	Microsatellite (inframe insertion)	LMX1A-related condition	GLikely benign
Select item 2576012	NM_177398.4(LMX1A):c.766C>T (p.Arg256Ter)	LMX1A, LMX1A-AS2 (R256*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1244331	NM_177398.4(LMX1A):c.747+62G>T	LMX1A-AS2, LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3024964	NM_177398.4(LMX1A):c.747+5C>T	LMX1A, LMX1A-AS2	Single nucleotide variant (intron variant)	LMX1A-related condition +1 more	GLikely benign
Select item 3042090	NM_177398.4(LMX1A):c.744G>A (p.Ala248=)	LMX1A, LMX1A-AS2	Single nucleotide variant (synonymous variant)	LMX1A-related condition	GLikely benign
Select item 812515	NM_177398.4(LMX1A):c.721G>C (p.Val241Leu)	LMX1A, LMX1A-AS2 (V241L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GPathogenic
Select item 1225418	NM_177398.4(LMX1A):c.670-76A>T	LMX1A, LMX1A-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249515	NM_177398.4(LMX1A):c.669+132C>T	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297934	NM_177398.4(LMX1A):c.669+107G>A	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2620268	NM_177398.4(LMX1A):c.642T>G (p.Phe214Leu)	LMX1A (F214L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050609	NM_177398.4(LMX1A):c.639A>C (p.Ser213=)	LMX1A	Single nucleotide variant (synonymous variant)	LMX1A-related condition	GLikely benign
Select item 1723178	NM_177398.4(LMX1A):c.622C>T (p.Arg208Ter)	LMX1A (R208*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 7	GPathogenic
Select item 1705342	NM_177398.4(LMX1A):c.595A>G (p.Arg199Gly)	LMX1A (R199G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GPathogenic
Select item 2639525	NM_177398.4(LMX1A):c.594G>A (p.Pro198=)	LMX1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805025	NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)	LMX1A (R194L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GUncertain significance
Select item 2310093	NM_177398.4(LMX1A):c.580C>G (p.Arg194Gly)	LMX1A (R194G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048089	NM_177398.4(LMX1A):c.554CTG[1] (p.Ala186del)	LMX1A (A186del)	Microsatellite (inframe deletion)	LMX1A-related condition	GLikely benign
Select item 1240781	NM_177398.4(LMX1A):c.496+156_496+168del	LMX1A	Deletion (intron variant)	not provided	GBenign
Select item 1253006	NM_177398.4(LMX1A):c.496+112T>C	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283936	NM_177398.4(LMX1A):c.496+11G>C	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225155	NM_177398.4(LMX1A):c.462G>A (p.Leu154=)	LMX1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1252147	NM_177398.4(LMX1A):c.349C>T (p.Leu117=)	LMX1A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 7 +1 more	GBenign
Select item 3039010	NM_177398.4(LMX1A):c.339T>C (p.Ser113=)	LMX1A	Single nucleotide variant (synonymous variant)	LMX1A-related condition	GBenign
Select item 1687337	NM_177398.4(LMX1A):c.331del (p.Gln111fs)	LMX1A (Q111fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 7	GLikely pathogenic
Select item 2664708	NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)	LMX1A (F106C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GUncertain significance
Select item 812516	NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser)	LMX1A (C97S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 7	GPathogenic
Select item 2598883	NM_177398.4(LMX1A):c.286G>A (p.Gly96Ser)	LMX1A (G96S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1240589	NM_177398.4(LMX1A):c.264-102T>A	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279303	NM_177398.4(LMX1A):c.264-152T>C	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801394	NM_177398.4(LMX1A):c.263+5059_263+5145del	LMX1A	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 2635694	NM_177398.4(LMX1A):c.146G>A (p.Arg49Gln)	LMX1A (R49Q)	Single nucleotide variant (missense variant)	LMX1A-related condition	GUncertain significance
Select item 2636115	NM_177398.4(LMX1A):c.95A>G (p.Lys32Arg)	LMX1A (K32R)	Single nucleotide variant (missense variant)	LMX1A-related condition	GUncertain significance
Select item 1243987	NM_177398.4(LMX1A):c.77-161dup	LMX1A	Duplication (intron variant)	not provided	GBenign
Select item 2358349	NM_177398.4(LMX1A):c.11G>C (p.Gly4Ala)	LMX1A (G4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 726824	NM_177398.4(LMX1A):c.9C>T (p.Asp3=)	LMX1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1230685	NM_177398.4(LMX1A):c.-22-184C>T	LMX1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1808475	GRCh37/hg19 1q23.3(chr1:164749028-165296253)x3	LMX1A, PBX1	Copy number gain	not provided	GUncertain significance
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic

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Items: 73