IDH3B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 155405	GRCh38/hg38 20p13(chr20:2526755-3081651)x3	C20orf141, CPXM1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 338007	NM_006899.5(IDH3B):c.*253T>C	IDH3B, LOC129391150 (Y366H)	Single nucleotide variant (3 prime UTR variant +2 more)	Retinitis pigmentosa	GUncertain significance
Select item 338008	NM_006899.5(IDH3B):c.*235A>G	IDH3B, LOC129391150 (N386S +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 3047812	NM_006899.5(IDH3B):c.*224C>A	IDH3B, LOC129391150	Single nucleotide variant (3 prime UTR variant +1 more)	IDH3B-related disorder	GLikely benign
Select item 338009	NM_006899.5(IDH3B):c.*212A>G	IDH3B, LOC129391150	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 338010	NM_006899.5(IDH3B):c.*203T>C	IDH3B, LOC129391150	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895740	NM_006899.5(IDH3B):c.*177A>G	IDH3B	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895741	NM_006899.5(IDH3B):c.*139G>A	IDH3B	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 1109754	NM_006899.5(IDH3B):c.1158G>A (p.Ter386=)	IDH3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1610493	NM_006899.5(IDH3B):c.1155C>T (p.Ser385=)	IDH3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1046476	NM_006899.5(IDH3B):c.1154G>C (p.Ser385Thr)	IDH3B (S385T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 954682	NM_006899.5(IDH3B):c.1151G>A (p.Gly384Glu)	IDH3B (G384E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1496977	NM_006899.5(IDH3B):c.1147A>G (p.Lys383Glu)	IDH3B (K383E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1160740	NM_006899.5(IDH3B):c.1146T>C (p.Thr382=)	IDH3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 895742	NM_006899.5(IDH3B):c.1145C>G (p.Thr382Ser)	IDH3B (T382S)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1164504	NM_006899.5(IDH3B):c.1143G>A (p.Gln381=)	IDH3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 338011	NM_006899.5(IDH3B):c.1132G>A (p.Gly378Ser)	IDH3B (G378S)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1660824	NM_006899.5(IDH3B):c.1131C>T (p.Ile377=)	IDH3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 998918	NM_006899.5(IDH3B):c.1131C>G (p.Ile377Met)	IDH3B (I377M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2553499	NM_006899.5(IDH3B):c.1126G>C (p.Val376Leu)	IDH3B (V376L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1916484	NM_006899.5(IDH3B):c.1120_1121del (p.Lys374fs)	IDH3B (K374fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 338012	NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del)	IDH3B (I373del)	Microsatellite (inframe_deletion +2 more)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 1126464	NM_006899.5(IDH3B):c.1119C>T (p.Ile373=)	IDH3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1353646	NM_006899.5(IDH3B):c.1117A>G (p.Ile373Val)	IDH3B (I373V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 835898	NM_006899.5(IDH3B):c.1111G>A (p.Asp371Asn)	IDH3B (D371N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1669126	NM_006899.5(IDH3B):c.1110C>T (p.Thr370=)	IDH3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2114969	NM_006899.5(IDH3B):c.1101C>A (p.Ser367Arg)	IDH3B (S367R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1969127	NM_006899.5(IDH3B):c.1095C>G (p.Gly365=)	IDH3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2973178	NM_006899.5(IDH3B):c.1092C>T (p.Gly364=)	IDH3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1426551	NM_006899.5(IDH3B):c.1091G>A (p.Gly364Asp)	IDH3B (G364D)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3028529	NM_006899.5(IDH3B):c.1081_1082insTAGGT (p.Arg361fs)	IDH3B (R361fs)	Insertion (frameshift variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 338013	NM_006899.5(IDH3B):c.1082G>A (p.Arg361Gln)	IDH3B (R361Q)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 3028530	NM_006899.5(IDH3B):c.1081C>G (p.Arg361Gly)	IDH3B (R361G)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 1006922	NM_006899.5(IDH3B):c.1081C>T (p.Arg361Ter)	IDH3B (R361*)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1113660	NM_006899.5(IDH3B):c.1080T>G (p.Thr360=)	IDH3B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1021514	NM_006899.5(IDH3B):c.1079C>T (p.Thr360Ile)	IDH3B (T360I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3028531	NM_006899.5(IDH3B):c.1076_1078del (p.Arg359_Thr360delinsPro)	IDH3B	Deletion (inframe_indel +2 more)	Retinal dystrophy	GUncertain significance
Select item 855370	NM_006899.5(IDH3B):c.1076G>A (p.Arg359Gln)	IDH3B (R359Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3028532	NM_006899.5(IDH3B):c.1075C>G (p.Arg359Gly)	IDH3B (R359G)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 1025117	NM_006899.5(IDH3B):c.1072-1G>A	IDH3B	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 194079	NM_006899.5(IDH3B):c.1072-4G>A	IDH3B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2869573	NM_006899.5(IDH3B):c.1072-5T>C	IDH3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1125121	NM_006899.5(IDH3B):c.1072-13G>A	IDH3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553852	NM_006899.5(IDH3B):c.1072-14G>A	IDH3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667575	NM_006899.5(IDH3B):c.1072-15C>T	IDH3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120953	NM_006899.5(IDH3B):c.1072-19T>C	IDH3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239037	NM_006899.5(IDH3B):c.1072-87C>A	IDH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259601	NM_006899.5(IDH3B):c.1072-172_1072-170del	IDH3B	Microsatellite (intron variant)	not provided	GBenign
Select item 1289133	NM_006899.5(IDH3B):c.1072-219C>T	IDH3B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1276694	NM_006899.5(IDH3B):c.1072-323C>T	IDH3B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1268139	NM_006899.5(IDH3B):c.1071+138T>A	IDH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273219	NM_006899.5(IDH3B):c.1071+108G>T	IDH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287281	NM_006899.5(IDH3B):c.1071+69C>T	IDH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1654296	NM_006899.5(IDH3B):c.1071+13G>A	IDH3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1467105	NM_006899.5(IDH3B):c.1071+5G>A	IDH3B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1372466	NM_006899.5(IDH3B):c.1071+4A>T	IDH3B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1380718	NM_006899.5(IDH3B):c.1071+3G>A	IDH3B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 338014	NM_006899.5(IDH3B):c.1061A>G (p.Lys354Arg)	IDH3B (K354R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 1439475	NM_006899.5(IDH3B):c.1059C>G (p.Ile353Met)	IDH3B (I353M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1901262	NM_006899.5(IDH3B):c.1048AAG[1] (p.Lys351del)	IDH3B (K351del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1384552	NM_006899.5(IDH3B):c.1048A>G (p.Lys350Glu)	IDH3B (K350E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 338015	NM_006899.5(IDH3B):c.1047G>A (p.Val349=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 1645648	NM_006899.5(IDH3B):c.1044G>A (p.Ala348=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2125577	NM_006899.5(IDH3B):c.1042G>C (p.Ala348Pro)	IDH3B (A348P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388966	NM_006899.5(IDH3B):c.1036G>A (p.Ala346Thr)	IDH3B (A346T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1116632	NM_006899.5(IDH3B):c.1035C>T (p.Ile345=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1906572	NM_006899.5(IDH3B):c.1030A>G (p.Met344Val)	IDH3B (M344V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1560518	NM_006899.5(IDH3B):c.1026C>T (p.Ser342=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3285253	NM_006899.5(IDH3B):c.1025C>T (p.Ser342Phe)	IDH3B (S342F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1128673	NM_006899.5(IDH3B):c.1023C>T (p.His341=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1465802	NM_006899.5(IDH3B):c.1019A>G (p.Tyr340Cys)	IDH3B (Y340C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 338016	NM_006899.5(IDH3B):c.1014T>C (p.Leu338=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193890	NM_006899.5(IDH3B):c.1011-9T>C	IDH3B	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1645430	NM_006899.5(IDH3B):c.1010+20C>T	IDH3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871761	NM_006899.5(IDH3B):c.1010+11G>A	IDH3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 896023	NM_006899.5(IDH3B):c.1010+8A>G	IDH3B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2082408	NM_006899.5(IDH3B):c.1010+1G>A	IDH3B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2007654	NM_006899.5(IDH3B):c.1007T>C (p.Leu336Pro)	IDH3B (L336P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1671852	NM_006899.5(IDH3B):c.1002G>C (p.Arg334=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870673	NM_006899.5(IDH3B):c.1001G>A (p.Arg334Gln)	IDH3B (R334Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1430206	NM_006899.5(IDH3B):c.1000C>T (p.Arg334Trp)	IDH3B (R334W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 1380440	NM_006899.5(IDH3B):c.992A>G (p.Asn331Ser)	IDH3B (N331S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2009522	NM_006899.5(IDH3B):c.990C>G (p.Ser330=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1109768	NM_006899.5(IDH3B):c.984G>A (p.Ser328=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 288776	NM_006899.5(IDH3B):c.981G>A (p.Leu327=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1382602	NM_006899.5(IDH3B):c.973A>C (p.Met325Leu)	IDH3B (M325L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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