"Ambry Genetics"[submitter] AND "CLPB"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 1979134	NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr)	CLPB (I547T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 +1 more	GUncertain significance
Select item 509662	NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln)	CLPB (R554Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 946761	NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)	CLPB (T490I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1516015	NM_001258392.3(CLPB):c.1497G>C (p.Gln499His)	CLPB (Q470H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2236163	NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro)	CLPB (L466P +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 1490584	NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys)	CLPB (E464K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 784199	NM_001258392.3(CLPB):c.1475C>G (p.Ala492Gly)	CLPB (A492G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 784200	NM_001258392.3(CLPB):c.1474G>T (p.Ala492Ser)	CLPB (A522S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 659990	NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)	CLPB (R459C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 3145950	NM_001258392.3(CLPB):c.1455G>T (p.Glu485Asp)	CLPB (E470D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1355240	NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe)	CLPB, LOC126861258 (L419F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2296567	NM_001258392.3(CLPB):c.1165G>T (p.Glu389Ter)	CLPB, LOC126861258 (E360* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1403614	NM_001258392.3(CLPB):c.1164C>G (p.His388Gln)	CLPB, LOC126861258 (H359Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 187783	NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)	CLPB, LOC126861258 (M411I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 187785	NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	CLPB, LOC126861258 (R408G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +4 more	GPathogenic/Likely pathogenic
Select item 2305249	NM_001258392.3(CLPB):c.1103T>C (p.Met368Thr)	CLPB (M339T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520785	NM_001258392.3(CLPB):c.1066+1G>A	CLPB	Single nucleotide variant (splice donor variant)	3-methylglutaconic aciduria, type VIIB +2 more	GPathogenic/Likely pathogenic
Select item 855610	NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)	CLPB (D325N +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +2 more	GUncertain significance
Select item 3267839	NM_001258392.3(CLPB):c.994C>T (p.Arg332Trp)	CLPB (R332W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2415827	NM_001258392.3(CLPB):c.917G>A (p.Arg306His)	CLPB (R277H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 576056	NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)	CLPB (E333G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GConflicting classifications of pathogenicity
Select item 1037936	NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)	CLPB (R284P +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 2186097	NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu)	CLPB (Q267E +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 3145954	NM_001258392.3(CLPB):c.782A>G (p.Asn261Ser)	CLPB (N232S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559764	NM_001258392.3(CLPB):c.766C>T (p.Leu256Phe)	CLPB (L227F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145952	NM_001258392.3(CLPB):c.761A>C (p.Glu254Ala)	CLPB (E239A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1010621	NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)	CLPB (R221C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIA +2 more	GUncertain significance
Select item 3145951	NM_001258392.3(CLPB):c.722A>T (p.His241Leu)	CLPB (H212L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1357364	NM_001258392.3(CLPB):c.692G>A (p.Arg231His)	CLPB (R202H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +2 more	GUncertain significance
Select item 641125	NM_030813.6(CLPB):c.715T>C (p.Trp239Arg)	CLPB (W239R +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 542781	NM_030813.6(CLPB):c.661G>A (p.Gly221Ser)	CLPB (G221S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1525932	NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu)	CLPB (K159E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1939221	NM_001258392.3(CLPB):c.428G>A (p.Arg143His)	CLPB (R143H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2270145	NM_001258392.3(CLPB):c.424G>A (p.Ala142Thr)	CLPB (C61Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 639454	NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)	CLPB (C116S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2514136	NM_001258392.3(CLPB):c.341G>A (p.Gly114Asp)	CLPB (G114D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1059675	NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)	CLPB (Q28R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 848832	NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)	CLPB, LOC130006336 (A85V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2533328	NM_001258392.3(CLPB):c.194G>A (p.Gly65Glu)	CLPB, LOC130006336 (G65E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330755	NM_001258392.3(CLPB):c.134C>A (p.Pro45Gln)	CLPB, LOC130006336 (P45Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 841085	NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)	CLPB, LOC130006336 (E44K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 52