"Genetic Services Laboratory, University of Chicago"[submitter] AND "K - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257453	NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu)	KBTBD13 (Q63L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6 +2 more	GBenign/Likely benign
Select item 129308	NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val)	KBTBD13 (A81V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 435545	NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met)	KBTBD13 (V82M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129309	NM_001101362.3(KBTBD13):c.378G>T (p.Ala126=)	KBTBD13	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 129310	NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp)	KBTBD13 (G265D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 129311	NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=)	KBTBD13	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 129312	NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=)	KBTBD13	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 257450	NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6 +2 more	GBenign/Likely benign
Select item 129305	NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=)	KBTBD13	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 129306	NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6 +2 more	GBenign
Select item 129307	NM_001101362.3(KBTBD13):c.1200T>C (p.Gly400=)	KBTBD13	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign