C5676893[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	3-methylglutaconic aciduria, type VIIB +2 more	GBenign/Likely benign
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 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)	Inborn genetic diseases +2 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	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 718976	NM_001258392.3(CLPB):c.1866G>A (p.Thr622=)	CLPB	Single nucleotide variant (synonymous variant)	CLPB-related condition +1 more	GBenign/Likely benign
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)	CLPB-related condition +2 more	GBenign
Select item 665509	NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)	CLPB (R605H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	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	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 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 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 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 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 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 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)	Inborn genetic diseases +1 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)	3-methylglutaconic aciduria, type VIIB +1 more	GLikely benign
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 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 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
Select item 1491646	NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro)	CLPB (R603P +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 849887	NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)	CLPB (R558H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1434028	NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys)	CLPB (R558C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 734467	NM_001258392.3(CLPB):c.1710C>T (p.Leu570=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 476193	NM_001258392.3(CLPB):c.1704G>A (p.Thr568=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB +1 more	GLikely benign
Select item 738171	NM_001258392.3(CLPB):c.1698C>T (p.Asn566=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1367494	NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser)	CLPB (R549S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2743850	NM_001258392.3(CLPB):c.1681-1G>A	CLPB	Single nucleotide variant (splice acceptor variant)	3-methylglutaconic aciduria, type VIIB	GLikely pathogenic
Select item 2900403	NM_001258392.3(CLPB):c.1681-3C>T	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1623703	NM_001258392.3(CLPB):c.1681-14C>T	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2852555	NM_001258392.3(CLPB):c.1681-17T>C	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1991562	NM_001258392.3(CLPB):c.1680+9G>A	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 960556	NM_001258392.3(CLPB):c.1680+6A>C	CLPB	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1996305	NM_001258392.3(CLPB):c.1680+2dup	CLPB	Duplication (splice donor variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1359649	NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn)	CLPB (K530N +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1055163	NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)	CLPB (A529T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1983646	NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)	CLPB (V521I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1144091	NM_001258392.3(CLPB):c.1644A>G (p.Gln548=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1979134	NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr)	CLPB (I547T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1927212	NM_001258392.3(CLPB):c.1632G>A (p.Ser544=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1471968	NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu)	CLPB (S529L +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1051953	NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)	CLPB (S515W +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2133104	NM_001258392.3(CLPB):c.1623C>T (p.Phe541=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 745484	NM_001258392.3(CLPB):c.1620C>T (p.Pro540=)	CLPB	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB +1 more	GLikely benign

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