Related gene-specific medical variations for Gene (Select 390594) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3390923	NM_001101362.3(KBTBD13):c.1309C>T (p.Gln437Ter)	KBTBD13 (Q437*)	Single nucleotide variant (nonsense)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 3360903	NM_001101362.3(KBTBD13):c.865G>A (p.Ala289Thr)	KBTBD13 (A289T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359138	NM_001101362.3(KBTBD13):c.1250A>T (p.Glu417Val)	KBTBD13 (E417V)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 3243775	NC_000015.9:g.(?_65369154)_(65370530_?)dup	KBTBD13	Duplication	Nemaline myopathy 6	GUncertain significance
Select item 2432984	NM_001101362.3(KBTBD13):c.176_177delinsAG (p.Arg59Gln)	KBTBD13 (R59Q)	Indel (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2432982	NM_001101362.3(KBTBD13):c.350G>C (p.Gly117Ala)	KBTBD13 (G117A)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2432981	NM_001101362.3(KBTBD13):c.166G>A (p.Gly56Arg)	KBTBD13 (G56R)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 930550	NM_001101362.3(KBTBD13):c.1183A>C (p.Thr395Pro)	KBTBD13 (T395P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 257456	NM_001101362.3(KBTBD13):c.295C>T (p.His99Tyr)	KBTBD13 (H99Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign