30664[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 1204239	NM_001258392.3(CLPB):c.*255C>A	CLPB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1216908	NM_001258392.3(CLPB):c.*173G>C	CLPB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1209234	NM_001258392.3(CLPB):c.*65A>G	CLPB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 642638	NC_000011.10:g.(?_72293347)_(72434494_?)del	CLPB, LOC124500684 +9 more	Deletion	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 1410637	NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs)	CLPB (N675fs +3 more)	Deletion (frameshift variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 2008505	NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?)	CLPB	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 859467	NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)	CLPB	Single nucleotide variant (stop lost)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1644933	NM_001258392.3(CLPB):c.2028C>T (p.Thr676=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 384218	NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala)	CLPB (T706A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GBenign
Select item 1536677	NM_001258392.3(CLPB):c.2024A>G (p.Asn675Ser)	CLPB (N646S +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1954118	NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr)	CLPB (C645Y +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1054101	NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)	CLPB (C645F +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2809996	NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs)	CLPB (P655fs +3 more)	Deletion (frameshift variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 756902	NM_001258392.3(CLPB):c.1995G>T (p.Arg665=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1695769	NM_001258392.3(CLPB):c.1994G>C (p.Arg665Pro)	CLPB (R636P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 933673	NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)	CLPB (R636Q +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 542779	NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp)	CLPB (R695W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2580434	NM_001258392.3(CLPB):c.1990A>C (p.Ile664Leu)	CLPB (I635L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508402	NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly)	CLPB (R632G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 954673	NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)	CLPB (R690H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1421973	NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys)	CLPB (R645C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1720124	NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser)	CLPB (T630S +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2744566	NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu)	CLPB (K643E +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1006915	NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)	CLPB (S628C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 1126257	NM_001258392.3(CLPB):c.1968C>T (p.Asp656=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 3348294	NM_001258392.3(CLPB):c.1960G>C (p.Asp654His)	CLPB (D625H +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder	GUncertain significance
Select item 2159908	NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn)	CLPB (D625N +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2869088	NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met)	CLPB (I683M +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2168745	NM_001258392.3(CLPB):c.1959C>T (p.Ile653=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 644706	NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)	CLPB (I638T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 279613	NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn)	CLPB (I682N +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	Gnot provided
Select item 2527934	NM_001258392.3(CLPB):c.1946G>A (p.Arg649His)	CLPB (R620H +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder +1 more	GUncertain significance
Select item 2147003	NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys)	CLPB (R620C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2731989	NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg)	CLPB (K647R +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 969064	NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)	CLPB (P676R +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 716711	NM_001258392.3(CLPB):c.1935C>T (p.Leu645=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB +1 more	GBenign
Select item 2908510	NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)	CLPB (R674H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1896805	NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys)	CLPB (R629C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2849801	NM_001258392.3(CLPB):c.1920G>C (p.Gln640His)	CLPB (Q670H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1952288	NM_001258392.3(CLPB):c.1920G>A (p.Gln640=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2893413	NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg)	CLPB (P608R +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2116856	NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser)	CLPB (P637S +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1132629	NM_001258392.3(CLPB):c.1908G>A (p.Leu636=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2791411	NM_001258392.3(CLPB):c.1902A>G (p.Pro634=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1572946	NM_001258392.3(CLPB):c.1902A>C (p.Pro634=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2054660	NM_001258392.3(CLPB):c.1890A>G (p.Leu630=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1029981	NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)	CLPB (E624Q +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 718976	NM_001258392.3(CLPB):c.1866G>A (p.Thr622=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GBenign
Select item 1601615	NM_001258392.3(CLPB):c.1865C>T (p.Thr622Met)	CLPB (T593M +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GBenign
Select item 1489290	NM_001258392.3(CLPB):c.1861A>G (p.Ile621Val)	CLPB (I592V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 380519	NM_001258392.3(CLPB):c.1860C>T (p.Arg620=)	CLPB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 665509	NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)	CLPB (R605H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 476194	NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu)	CLPB (R650L +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 2183198	NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys)	CLPB (R620C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 279612	NM_001258392.3(CLPB):c.1847dup (p.Cys617fs)	CLPB (C588fs +3 more)	Duplication (frameshift variant)	3-methylglutaconic aciduria, type VIIB	Gnot provided
Select item 1476720	NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala)	CLPB (G616A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 187781	NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val)	CLPB (G646V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 966819	NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)	CLPB (G586V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1032238	NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)	CLPB (P644A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2696940	NM_001258392.3(CLPB):c.1836G>T (p.Leu612=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2642119	NM_001258392.3(CLPB):c.1835T>G (p.Leu612Arg)	CLPB (L583R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485642	NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val)	CLPB (D611V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 279611	NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys)	CLPB (E639K +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	Gnot provided
Select item 2918582	NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys)	CLPB (Y579C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1951895	NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val)	CLPB (A591V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1700633	NM_001258392.3(CLPB):c.1813_1814delinsAA (p.Ala605Lys)	CLPB (A576K +2 more)	Indel (missense variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 1032237	NM_001258392.3(CLPB):c.1803G>A (p.Val601=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GConflicting classifications of pathogenicity
Select item 2889912	NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala)	CLPB (V571A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 718901	NM_001258392.3(CLPB):c.1796G>A (p.Arg599His)	CLPB (R570H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2045467	NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)	CLPB (R629S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 936562	NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)	CLPB (R599C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 279610	NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)	CLPB (R628C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +2 more	GConflicting classifications of pathogenicity
Select item 647205	NM_001258392.3(CLPB):c.1786-3C>T	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1619635	NM_001258392.3(CLPB):c.1786-5G>A	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 512781	NM_001258392.3(CLPB):c.1786-6C>T	CLPB	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 676262	NM_001258392.3(CLPB):c.1786-55A>G	CLPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678374	NM_001258392.3(CLPB):c.1786-106C>T	CLPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683471	NM_001258392.3(CLPB):c.1786-176C>T	CLPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1929684	NM_001258392.3(CLPB):c.1785+13G>A	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1530621	NM_001258392.3(CLPB):c.1785+8C>T	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1635628	NM_001258392.3(CLPB):c.1785+7A>G	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 3348582	NM_001258392.3(CLPB):c.1785+5G>A	CLPB	Single nucleotide variant (intron variant)	CLPB-related disorder	GLikely benign
Select item 633545	NM_001258392.3(CLPB):c.1781A>G (p.His594Arg)	CLPB (H594R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506368	NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr)	CLPB (H594Y +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 970532	NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)	CLPB (K623Q +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1676586	NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys)	CLPB (R620C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1380471	NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr)	CLPB (A574T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2965016	NM_001258392.3(CLPB):c.1764C>T (p.Gly588=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 187784	NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys)	CLPB (Y617C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 1500628	NM_001258392.3(CLPB):c.1758C>G (p.His586Gln)	CLPB (H571Q +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2810270	NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp)	CLPB (N569D +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 939621	NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)	CLPB (G582S +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 755524	NM_001258392.3(CLPB):c.1743C>T (p.Asp581=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1428188	NM_001258392.3(CLPB):c.1741G>A (p.Asp581Asn)	CLPB (D566N +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 794852	NM_001258392.3(CLPB):c.1740C>T (p.Val580=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2194711	NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly)	CLPB (A576G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2162143	NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys)	CLPB (E545K +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance

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