Related gene-specific medical variations for Gene (Select 55709) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3112970	NM_018095.6(KBTBD4):c.1517C>T (p.Thr506Ile)	KBTBD4, PTPMT1 (T490I +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2539391	NM_018095.6(KBTBD4):c.1180G>A (p.Gly394Arg)	KBTBD4, PTPMT1 (G394R +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538772	NM_018095.6(KBTBD4):c.1292A>C (p.Tyr431Ser)	KBTBD4, PTPMT1 (Y438S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2396111	NM_018095.6(KBTBD4):c.1372G>T (p.Val458Leu)	KBTBD4, PTPMT1 (V465L +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394727	NM_018095.6(KBTBD4):c.1206G>T (p.Glu402Asp)	KBTBD4, PTPMT1 (E409D +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308799	NM_018095.6(KBTBD4):c.1433C>G (p.Ser478Cys)	KBTBD4, PTPMT1 (S462C +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

ClinVar