CIB2[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 237

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 57247	GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3	ACSBG1, CIB2 +46 more	Copy number gain	See cases	GUncertain significance
Select item 1287164	NM_006383.4(CIB2):c.*298C>A	CIB2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1189907	NM_006383.4(CIB2):c.*298C>G	CIB2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1179220	NM_006383.4(CIB2):c.*185C>G	CIB2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1198459	NM_006383.4(CIB2):c.*149dup	CIB2	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1270847	NM_006383.4(CIB2):c.*41C>T	CIB2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2645608	NM_006383.4(CIB2):c.558G>T (p.Arg186=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 505421	NM_006383.4(CIB2):c.557G>A (p.Arg186Gln)	CIB2 (R186Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 499480	NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)	CIB2 (R186W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1362591	NM_006383.4(CIB2):c.553A>C (p.Ile185Leu)	CIB2 (I190L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926468	NM_006383.4(CIB2):c.552C>T (p.His184=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1666952	NM_006383.4(CIB2):c.543-5T>C	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002024	NM_006383.4(CIB2):c.543-8C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114983	NM_006383.4(CIB2):c.543-12C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658515	NM_006383.4(CIB2):c.543-17C>G	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216195	NM_006383.4(CIB2):c.543-30C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216540	NM_006383.4(CIB2):c.543-45C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207268	NM_006383.4(CIB2):c.543-50C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191815	NM_006383.4(CIB2):c.543-136C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245883	NM_006383.4(CIB2):c.543-172A>G	CIB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197669	NM_006383.4(CIB2):c.542+51G>A	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1117369	NM_006383.4(CIB2):c.542+20C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609898	NM_006383.4(CIB2):c.542+13C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2037742	NM_006383.4(CIB2):c.542+11T>C	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093310	NM_006383.4(CIB2):c.542+10C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3249703	NM_006383.4(CIB2):c.542+8C>A	CIB2	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 1058577	NM_006383.4(CIB2):c.542+1G>A	CIB2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1011463	NM_006383.4(CIB2):c.532G>C (p.Asp178His)	CIB2 (D129H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1488895	NM_006383.4(CIB2):c.530C>T (p.Pro177Leu)	CIB2 (P177L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3384478	NM_006383.4(CIB2):c.523A>G (p.Lys175Glu)	CIB2 (K126E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 227251	NM_006383.4(CIB2):c.523A>C (p.Lys175Gln)	CIB2 (K175Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1026979	NM_006383.4(CIB2):c.508G>A (p.Glu170Lys)	CIB2 (E121K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 721905	NM_006383.4(CIB2):c.507C>T (p.Phe169=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1019812	NM_006383.4(CIB2):c.503A>T (p.Asp168Val)	CIB2 (D119V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1998330	NM_006383.4(CIB2):c.490C>T (p.Leu164=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1300424	NM_006383.4(CIB2):c.484G>A (p.Gly162Ser)	CIB2 (G113S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1130639	NM_006383.4(CIB2):c.483C>T (p.Asp161=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2016077	NM_006383.4(CIB2):c.482A>C (p.Asp161Ala)	CIB2 (D161A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1088554	NM_006383.4(CIB2):c.480T>A (p.Gly160=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2444489	NM_006383.4(CIB2):c.476_479del (p.Asp159fs)	CIB2 (D110fs +3 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1J	GPathogenic
Select item 1944534	NM_006383.4(CIB2):c.478G>A (p.Gly160Ser)	CIB2 (G117S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 226517	NM_006383.4(CIB2):c.477C>T (p.Asp159=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 287702	NM_006383.4(CIB2):c.473T>G (p.Leu158Trp)	CIB2 (L158W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1544329	NM_006383.4(CIB2):c.465G>A (p.Glu155=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 197786	NM_006383.4(CIB2):c.462G>A (p.Glu154=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1062305	NM_006383.4(CIB2):c.454G>T (p.Val152Phe)	CIB2 (V103F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1487394	NM_006383.4(CIB2):c.453G>C (p.Lys151Asn)	CIB2 (K102N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2105044	NM_006383.4(CIB2):c.451A>G (p.Lys151Glu)	CIB2 (K108E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 197787	NM_006383.4(CIB2):c.448G>A (p.Asp150Asn)	CIB2 (D150N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1668291	NM_006383.4(CIB2):c.447C>T (p.Cys149=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2420259	NM_006383.4(CIB2):c.433G>A (p.Val145Met)	CIB2 (V102M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446539	NM_006383.4(CIB2):c.409A>G (p.Lys137Glu)	CIB2 (K88E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2074007	NM_006383.4(CIB2):c.407C>T (p.Thr136Ile)	CIB2 (T141I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 961190	NM_006383.4(CIB2):c.401G>A (p.Arg134Gln)	CIB2 (R134Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 938513	NM_006383.4(CIB2):c.401G>T (p.Arg134Leu)	CIB2 (R85L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1417924	NM_006383.4(CIB2):c.400C>T (p.Arg134Trp)	CIB2 (R134W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 226516	NM_006383.4(CIB2):c.393G>A (p.Thr131=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1016475	NM_006383.4(CIB2):c.392C>T (p.Thr131Met)	CIB2 (T131M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1455258	NM_006383.4(CIB2):c.385G>T (p.Glu129Ter)	CIB2 (E134* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 849056	NM_006383.4(CIB2):c.374A>G (p.Lys125Arg)	CIB2 (K76R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1922499	NM_006383.4(CIB2):c.369C>T (p.Ile123=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 39687	NM_006383.4(CIB2):c.368T>C (p.Ile123Thr)	CIB2 (I123T +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 48	GPathogenic
Select item 1119392	NM_006383.4(CIB2):c.366C>T (p.Phe122=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1086330	NM_006383.4(CIB2):c.354C>T (p.Asn118=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1026504	NM_006383.4(CIB2):c.352A>G (p.Asn118Asp)	CIB2 (N118D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2430854	NM_006383.4(CIB2):c.347-2A>C	CIB2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2766698	NM_006383.4(CIB2):c.347-6C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1487377	NM_006383.4(CIB2):c.347-7C>A	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574809	NM_006383.4(CIB2):c.347-12C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1204216	NM_006383.4(CIB2):c.347-210T>G	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235663	NM_006383.4(CIB2):c.346+242T>G	CIB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197901	NM_006383.4(CIB2):c.346+232G>A	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182084	NM_006383.4(CIB2):c.346+161C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232603	NM_006383.4(CIB2):c.346+135C>G	CIB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263127	NM_006383.4(CIB2):c.346+38dup	CIB2	Duplication (intron variant)	not provided	GBenign
Select item 1287076	NM_006383.4(CIB2):c.346+35_346+36dup	CIB2	Duplication (intron variant)	not provided	GBenign
Select item 1247616	NM_006383.4(CIB2):c.346+37T>G	CIB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183710	NM_006383.4(CIB2):c.346+37T>A	CIB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253320	NM_006383.4(CIB2):c.346+35G>C	CIB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1560091	NM_006383.4(CIB2):c.346+20G>A	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637061	NM_006383.4(CIB2):c.346+16G>C	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945575	NM_006383.4(CIB2):c.346+11del	CIB2	Deletion (intron variant)	not provided	GLikely benign
Select item 1132395	NM_006383.4(CIB2):c.346+11C>T	CIB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1088836	NM_006383.4(CIB2):c.333C>T (p.Ala111=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1475871	NM_006383.4(CIB2):c.327C>G (p.Asn109Lys)	CIB2 (N60K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1503724	NM_006383.4(CIB2):c.323C>A (p.Ala108Glu)	CIB2 (A108E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1496937	NM_006383.4(CIB2):c.322G>A (p.Ala108Thr)	CIB2 (A108T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446454	NM_006383.4(CIB2):c.301_311del (p.Ser101fs)	CIB2 (S106fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 666673	NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)	CIB2 (R104Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1454880	NM_006383.4(CIB2):c.309_310del (p.Glu105fs)	CIB2 (E105fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1367570	NM_006383.4(CIB2):c.310C>T (p.Arg104Ter)	CIB2 (R109* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 955161	NM_006383.4(CIB2):c.310C>G (p.Arg104Gly)	CIB2 (R55G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 505395	NM_006383.4(CIB2):c.300_309del (p.Glu100fs)	CIB2 (E105fs +3 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 48 +3 more	GPathogenic/Likely pathogenic
Select item 938450	NM_006383.4(CIB2):c.307C>T (p.Pro103Ser)	CIB2 (P54S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 226515	NM_006383.4(CIB2):c.303G>A (p.Ser101=)	CIB2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1015598	NM_006383.4(CIB2):c.302C>T (p.Ser101Leu)	CIB2 (S101L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 3