ClinVar for Gene (Select 8799) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362605	NM_003846.3(PEX11B):c.148_149del (p.Ser50fs)	PEX11B (S36fs +1 more)	Microsatellite (frameshift variant +1 more)	Peroxisome biogenesis disorder 14B	GLikely pathogenic
Select item 3351259	NM_003846.3(PEX11B):c.182T>C (p.Leu61Pro)	PEX11B (L47P +1 more)	Single nucleotide variant (missense variant +1 more)	PEX11B-related disorder	GUncertain significance
Select item 3345991	NM_003846.3(PEX11B):c.178C>A (p.Arg60Ser)	PEX11B (R46S +1 more)	Single nucleotide variant (missense variant +1 more)	PEX11B-related disorder	GUncertain significance
Select item 3305834	NM_003846.3(PEX11B):c.343G>A (p.Asp115Asn)	PEX11B (D115N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3242277	GRCh37/hg19 1q21.1(chr1:145382834-145830864)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GPathogenic
Select item 3242276	GRCh37/hg19 1q21.1(chr1:145382713-145831179)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 3211491	NM_003846.3(PEX11B):c.757C>A (p.Pro253Thr)	PEX11B (P253T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148893	GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 3148875	GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3	ACP6, ANKRD34A +39 more	Copy number gain	See cases	GPathogenic
Select item 3063388	GRCh37/hg19 1q21.1(chr1:145452902-145557355)x3	ANKRD34A, ANKRD35 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062018	Single allele	ANKRD34A, ANKRD35 +14 more	Deletion	not provided	GPathogenic
Select item 3056906	NM_003846.3(PEX11B):c.173-9C>T	PEX11B	Single nucleotide variant (intron variant)	PEX11B-related disorder	GLikely benign
Select item 3051869	NM_003846.3(PEX11B):c.*6C>T	PEX11B	Single nucleotide variant (3 prime UTR variant +1 more)	PEX11B-related disorder	GLikely benign
Select item 3024561	GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)	ACP6, ANKRD34A +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3004362	NM_003846.3(PEX11B):c.374+7T>G	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983289	NM_003846.3(PEX11B):c.173-20C>G	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979258	NM_003846.3(PEX11B):c.108A>T (p.Gly36=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971209	NM_003846.3(PEX11B):c.177A>G (p.Leu59=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887781	NM_003846.3(PEX11B):c.717C>T (p.Gly239=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2862549	NM_003846.3(PEX11B):c.96G>T (p.Leu32=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2819529	NM_003846.3(PEX11B):c.45G>A (p.Glu15=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807724	NM_003846.3(PEX11B):c.9C>G (p.Ala3=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2800631	NM_003846.3(PEX11B):c.255C>T (p.Cys85=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2792476	NM_003846.3(PEX11B):c.48G>T (p.Arg16=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2760162	NM_003846.3(PEX11B):c.87C>A (p.Gly29=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2755166	NM_003846.3(PEX11B):c.56+8C>G	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697491	NM_003846.3(PEX11B):c.285G>A (p.Leu95=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2692363	NM_003846.3(PEX11B):c.11G>A (p.Trp4Ter)	PEX11B (W4*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 14B	GLikely pathogenic
Select item 2685824	GRCh37/hg19 1q21.1(chr1:145287320-145764679)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2685621	GRCh37/hg19 1q21.1(chr1:145382124-145803834)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 2685610	GRCh37/hg19 1q21.1(chr1:145368365-145829474)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2685599	GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic
Select item 2672392	GRCh37/hg19 1q21.1(chr1:144828541-145826929)x3	ANKRD34A, ANKRD35 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2584929	NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter)	PEX11B (Q28* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 14B	GLikely pathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2580306	GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2579208	GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1	ANKRD34A, ANKRD35 +47 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 2574675	GRCh37/hg19 1q21.1(chr1:145382123-145792051)	ANKRD34A, ANKRD35 +14 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2499625	GRCh38/hg38 1q21.1(chr1:145635432-146019857)	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2445217	Single allele	RBM8A, RNF115 +14 more	Deletion	See cases	GPathogenic
Select item 2424777	NC_000001.10:g.(?_145522494)_(145522919_?)dup	PEX11B	Duplication	not provided	GUncertain significance
Select item 2416937	NM_003846.3(PEX11B):c.428G>A (p.Arg143His)	PEX11B (R129H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2413786	NM_003846.3(PEX11B):c.515G>T (p.Gly172Val)	PEX11B (G158V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2312717	NM_003846.3(PEX11B):c.503G>A (p.Ser168Asn)	PEX11B (S168N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2186628	NM_003846.3(PEX11B):c.215A>G (p.Lys72Arg)	PEX11B (K58R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183119	NM_003846.3(PEX11B):c.546T>C (p.Gly182=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2180388	NM_003846.3(PEX11B):c.767G>T (p.Arg256Leu)	PEX11B (R256L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2133150	NM_003846.3(PEX11B):c.141A>T (p.Gln47His)	PEX11B (Q33H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2132238	NM_003846.3(PEX11B):c.606A>G (p.Arg202=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2131408	NM_003846.3(PEX11B):c.649G>T (p.Asp217Tyr)	PEX11B (D203Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125324	NM_003846.3(PEX11B):c.514G>A (p.Gly172Arg)	PEX11B (G158R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125124	NM_003846.3(PEX11B):c.772A>C (p.Lys258Gln)	PEX11B (K258Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2116641	NM_003846.3(PEX11B):c.172+1G>A	PEX11B	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2114526	NM_003846.3(PEX11B):c.338G>A (p.Arg113His)	PEX11B (R113H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2111783	NM_003846.3(PEX11B):c.210A>G (p.Ser70=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2103310	NM_003846.3(PEX11B):c.431T>C (p.Leu144Pro)	PEX11B (L144P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2092104	NM_003846.3(PEX11B):c.711T>C (p.Leu237=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2088398	NM_003846.3(PEX11B):c.56+20G>T	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2082594	NM_003846.3(PEX11B):c.68A>G (p.Tyr23Cys)	PEX11B (Y23C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2074159	NM_003846.3(PEX11B):c.375-18T>G	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2065083	NM_003846.3(PEX11B):c.499G>A (p.Gly167Arg)	PEX11B (G167R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2064818	NM_003846.3(PEX11B):c.216A>G (p.Lys72=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2055831	NM_003846.3(PEX11B):c.57-7C>A	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2054420	NM_003846.3(PEX11B):c.173-19C>T	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050803	NM_003846.3(PEX11B):c.691G>A (p.Gly231Ser)	PEX11B (G217S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2044205	NM_003846.3(PEX11B):c.56+5G>C	PEX11B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2043438	NM_003846.3(PEX11B):c.327A>G (p.Gly109=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2041842	NM_003846.3(PEX11B):c.108dup (p.Ala37fs)	PEX11B (A37fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2035118	NM_003846.3(PEX11B):c.66G>A (p.Gln22=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2028704	NM_003846.3(PEX11B):c.56+13T>A	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2025947	NM_003846.3(PEX11B):c.189C>T (p.Asn63=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2015313	NM_003846.3(PEX11B):c.375-19C>T	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014049	NM_003846.3(PEX11B):c.172+14T>A	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013549	NM_003846.3(PEX11B):c.497G>A (p.Gly166Glu)	PEX11B (G166E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008702	NM_003846.3(PEX11B):c.662C>G (p.Pro221Arg)	PEX11B (P207R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005659	NM_003846.3(PEX11B):c.533C>T (p.Thr178Ile)	PEX11B (T178I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2004364	NM_003846.3(PEX11B):c.771C>T (p.Leu257=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1999089	NM_003846.3(PEX11B):c.539G>A (p.Gly180Glu)	PEX11B (G180E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1997971	NM_003846.3(PEX11B):c.518T>A (p.Leu173His)	PEX11B (L173H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992874	NM_003846.3(PEX11B):c.63_64del (p.Gln22fs)	PEX11B (Q8fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1970009	NM_003846.3(PEX11B):c.375-18T>C	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967484	NM_003846.3(PEX11B):c.85G>A (p.Gly29Ser)	PEX11B (G29S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1958980	NM_003846.3(PEX11B):c.16C>T (p.Arg6Cys)	PEX11B (R6C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956834	NM_003846.3(PEX11B):c.110C>A (p.Ala37Asp)	PEX11B (A23D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1950658	NM_003846.3(PEX11B):c.309G>A (p.Leu103=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1945966	NM_003846.3(PEX11B):c.375-5A>G	PEX11B	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1944043	NM_003846.3(PEX11B):c.375-11C>T	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941485	NM_003846.3(PEX11B):c.411T>C (p.Arg137=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940116	NM_003846.3(PEX11B):c.588C>T (p.Leu196=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1935718	NM_003846.3(PEX11B):c.172+11C>T	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932695	NM_003846.3(PEX11B):c.363G>A (p.Gln121=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1929140	NM_003846.3(PEX11B):c.57-7C>G	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923981	NM_003846.3(PEX11B):c.172+11C>G	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923779	NM_003846.3(PEX11B):c.89A>G (p.His30Arg)	PEX11B (H30R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919003	NM_003846.3(PEX11B):c.432A>G (p.Leu144=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1918570	NM_003846.3(PEX11B):c.521G>C (p.Gly174Ala)	PEX11B (G160A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915769	NM_003846.3(PEX11B):c.467G>A (p.Arg156Gln)	PEX11B (R142Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906467	NM_003846.3(PEX11B):c.456T>G (p.Ala152=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1879126	GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic

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