84140[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 874

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 545283	Single allele	B3GNT2, CCT4 +59 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60179	GRCh38/hg38 2p15(chr2:61515438-62305848)x1	B3GNT2, CCT4 +32 more	Copy number loss	See cases	GPathogenic
Select item 897009	NM_001201543.2(FAM161A):c.*1551A>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336709	NM_001201543.2(FAM161A):c.*1549G>T	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336710	NM_001201543.2(FAM161A):c.*1507G>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897486	NM_001201543.2(FAM161A):c.*1432T>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336711	NM_001201543.2(FAM161A):c.*1368A>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336712	NM_001201543.2(FAM161A):c.*1349A>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336713	NM_001201543.2(FAM161A):c.*1345G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897487	NM_001201543.2(FAM161A):c.*1299T>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897488	NM_001201543.2(FAM161A):c.*1252A>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336714	NM_001201543.2(FAM161A):c.*1223A>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336715	NM_001201543.2(FAM161A):c.*1210T>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GBenign
Select item 336716	NM_001201543.2(FAM161A):c.*1144T>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336717	NM_001201543.2(FAM161A):c.*1136G>T	FAM161A	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336718	NM_001201543.2(FAM161A):c.*1129A>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336719	NM_001201543.2(FAM161A):c.*1100T>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336720	NM_001201543.2(FAM161A):c.*815del	FAM161A	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 336721	NM_001201543.2(FAM161A):c.811_812insG	FAM161A	Insertion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 336722	NM_001201543.2(FAM161A):c.*802A>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898642	NM_001201543.2(FAM161A):c.*795G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336723	NM_001201543.2(FAM161A):c.*757G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895659	NM_001201543.2(FAM161A):c.*755G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336724	NM_001201543.2(FAM161A):c.*752A>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336725	NM_001201543.2(FAM161A):c.*617G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895660	NM_001201543.2(FAM161A):c.*525G>T	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895661	NM_001201543.2(FAM161A):c.*523G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895662	NM_001201543.2(FAM161A):c.*519C>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336726	NM_001201543.2(FAM161A):c.*311A>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GBenign
Select item 336727	NM_001201543.2(FAM161A):c.*300T>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GBenign
Select item 336728	NM_001201543.2(FAM161A):c.*248del	FAM161A	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 336729	NM_001201543.2(FAM161A):c.*196A>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 897076	NM_001201543.2(FAM161A):c.*83G>T	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336730	NM_001201543.2(FAM161A):c.*68G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897078	NM_001201543.2(FAM161A):c.*44G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897077	NM_001201543.2(FAM161A):c.*44G>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336731	NM_001201543.2(FAM161A):c.41_43del	FAM161A	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 336732	NM_001201543.2(FAM161A):c.*26C>T	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GLikely benign
Select item 1079357	NM_001201543.2(FAM161A):c.2148C>T (p.His716=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1357231	NM_001201543.2(FAM161A):c.2141A>C (p.Glu714Ala)	FAM161A (E714A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987087	NM_001201543.2(FAM161A):c.2133T>A (p.Ser711=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 553904	NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del)	FAM161A (E709del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 167056	NM_001201543.2(FAM161A):c.2122G>A (p.Glu708Lys)	FAM161A (E652K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 2150589	NM_001201543.2(FAM161A):c.2108A>G (p.Asn703Ser)	FAM161A (N647S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770990	NM_001201543.2(FAM161A):c.2106C>T (p.Ala702=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3091933	NM_001201543.2(FAM161A):c.2104G>A (p.Ala702Thr)	FAM161A (A702T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2089992	NM_001201543.2(FAM161A):c.2097A>G (p.Lys699=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1959034	NM_001201543.2(FAM161A):c.2097del (p.Asp700fs)	FAM161A (D644fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1664235	NM_001201543.2(FAM161A):c.2085T>C (p.Ser695=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 991304	NM_001201543.2(FAM161A):c.2080G>C (p.Asp694His)	FAM161A (D638H +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 795435	NM_001201543.2(FAM161A):c.2073C>T (p.Asn691=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 862611	NM_001201543.2(FAM161A):c.2065G>T (p.Asp689Tyr)	FAM161A (D633Y +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 336733	NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 2158437	NM_001201543.2(FAM161A):c.2057A>G (p.Tyr686Cys)	FAM161A (Y630C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934142	NM_001201543.2(FAM161A):c.2055T>A (p.Asn685Lys)	FAM161A (N685K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3091932	NM_001201543.2(FAM161A):c.2050G>C (p.Glu684Gln)	FAM161A (E628Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2825547	NM_001201543.2(FAM161A):c.2046G>A (p.Gly682=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2228840	NM_001201543.2(FAM161A):c.2045G>C (p.Gly682Ala)	FAM161A (G682A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1614643	NM_001201543.2(FAM161A):c.2040G>A (p.Glu680=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1698499	NM_001201543.2(FAM161A):c.2034_2037del (p.Glu680fs)	FAM161A (E624fs +1 more)	Microsatellite (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1968687	NM_001201543.2(FAM161A):c.2034A>G (p.Glu678=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2675380	NM_001201543.2(FAM161A):c.2032G>T (p.Glu678Ter)	FAM161A (E622* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 862337	NM_001201543.2(FAM161A):c.2030A>G (p.Glu677Gly)	FAM161A (E621G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1696178	NM_001201543.2(FAM161A):c.2020G>T (p.Glu674Ter)	FAM161A (E618* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1636397	NM_001201543.2(FAM161A):c.2016A>G (p.Glu672=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 897550	NM_001201543.2(FAM161A):c.2016A>C (p.Glu672Asp)	FAM161A (E672D +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 1969346	NM_001201543.2(FAM161A):c.2013T>C (p.Asn671=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 858459	NM_001201543.2(FAM161A):c.2011A>G (p.Asn671Asp)	FAM161A (N615D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1668713	NM_001201543.2(FAM161A):c.2007-4C>G	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646618	NM_001201543.2(FAM161A):c.2007-5C>T	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2041023	NM_001201543.2(FAM161A):c.2007-8T>A	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1081250	NM_001201543.2(FAM161A):c.2007-9T>C	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000801	NM_001201543.2(FAM161A):c.2007-10C>A	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1129305	NM_001201543.2(FAM161A):c.2007-16A>G	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890274	NM_001201543.2(FAM161A):c.2006+15_2006+17del	FAM161A	Deletion (intron variant)	not provided	GLikely benign
Select item 2973449	NM_001201543.2(FAM161A):c.2006+15A>T	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603330	NM_001201543.2(FAM161A):c.2006+11T>A	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734472	NM_001201543.2(FAM161A):c.2006+10A>G	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993799	NM_001201543.2(FAM161A):c.2006+10A>T	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962573	NM_001201543.2(FAM161A):c.2006+9T>A	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2675387	NM_001201543.2(FAM161A):c.2006+1G>A	FAM161A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 1464532	NM_001201543.2(FAM161A):c.2006G>A (p.Ser669Asn)	FAM161A (S613N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1094748	NM_001201543.2(FAM161A):c.2003A>T (p.Glu668Val)	FAM161A (E612V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1035203	NM_001201543.2(FAM161A):c.2002G>A (p.Glu668Lys)	FAM161A (E612K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1011806	NM_001201543.2(FAM161A):c.1996G>A (p.Asp666Asn)	FAM161A (D610N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1586512	NM_001201543.2(FAM161A):c.1992T>C (p.Thr664=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1023884	NM_001201543.2(FAM161A):c.1991C>T (p.Thr664Ile)	FAM161A (T608I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 336734	NM_001201543.2(FAM161A):c.1989C>T (p.Val663=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1970946	NM_001201543.2(FAM161A):c.1980G>A (p.Thr660=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1632400	NM_001201543.2(FAM161A):c.1980G>T (p.Thr660=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 794222	NM_001201543.2(FAM161A):c.1980G>C (p.Thr660=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 933948	NM_001201543.2(FAM161A):c.1979C>T (p.Thr660Met)	FAM161A (T604M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 9