"PreventionGenetics, part of Exact Sciences"[submitter] AND "CLPB"[gen - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 542779	NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp)	CLPB (R695W +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 718976	NM_001258392.3(CLPB):c.1866G>A (p.Thr622=)	CLPB	Single nucleotide variant (synonymous variant)	CLPB-related disorder +1 more	GBenign/Likely benign
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 279610	NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)	CLPB (R628C +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder +2 more	GConflicting classifications of pathogenicity
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
Select item 509662	NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln)	CLPB (R554Q +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 784199	NM_001258392.3(CLPB):c.1475C>G (p.Ala492Gly)	CLPB (A492G +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder +2 more	GLikely benign
Select item 784200	NM_001258392.3(CLPB):c.1474G>T (p.Ala492Ser)	CLPB (A522S +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder +2 more	GLikely benign
Select item 507134	NM_001258392.3(CLPB):c.1425C>T (p.His475=)	CLPB	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2902096	NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	CLPB-related disorder +1 more	GLikely benign
Select item 724996	NM_001258392.3(CLPB):c.1140C>T (p.Asp380=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 642926	NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)	CLPB (A330V +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3031220	NM_001258392.3(CLPB):c.964A>G (p.Ser322Gly)	CLPB (S293G +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder	GUncertain significance
Select item 844712	NM_001258392.3(CLPB):c.896G>A (p.Arg299His)	CLPB (R329H +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder +1 more	GUncertain significance
Select item 571670	NM_001258392.3(CLPB):c.844A>G (p.Met282Val)	CLPB (M312V +3 more)	Single nucleotide variant (missense variant)	CLPB-related disorder +3 more	GUncertain significance
Select item 380518	NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr)	CLPB (R295T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +2 more	GBenign
Select item 384988	NM_001258392.3(CLPB):c.776-10C>G	CLPB	Single nucleotide variant (intron variant)	CLPB-related disorder +2 more	GBenign/Likely benign
Select item 187787	NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)	CLPB (T268M +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GPathogenic/Likely pathogenic
Select item 570992	NM_001258392.3(CLPB):c.646+6T>C	CLPB	Single nucleotide variant (intron variant)	CLPB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 714960	NM_001258392.3(CLPB):c.531C>T (p.Asn177=)	CLPB	Single nucleotide variant (synonymous variant +1 more)	CLPB-related disorder +1 more	GLikely benign
Select item 1513644	NM_001258392.3(CLPB):c.456-3T>A	CLPB	Single nucleotide variant (intron variant)	CLPB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2631159	NM_001258392.3(CLPB):c.456-5110G>C	CLPB (A86P)	Single nucleotide variant (missense variant +1 more)	CLPB-related disorder	GUncertain significance
Select item 2632403	NM_001258392.3(CLPB):c.403+4A>G	CLPB	Single nucleotide variant (intron variant)	CLPB-related disorder	GUncertain significance
Select item 729445	NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser)	CLPB (A117S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 784587	NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala)	CLPB, LOC130006336 (G71A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign

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Items: 26