Related gene-specific medical variations for Gene (Select 386618) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113662	NM_198404.3(KCTD4):c.512G>A (p.Arg171His)	GTF2F2, KCTD4 (R171H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113661	NM_198404.3(KCTD4):c.511C>T (p.Arg171Cys)	GTF2F2, KCTD4 (R171C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113660	NM_198404.3(KCTD4):c.268C>G (p.Leu90Val)	GTF2F2, KCTD4 (L90V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598790	NM_198404.3(KCTD4):c.487G>C (p.Asp163His)	GTF2F2, KCTD4 (D163H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457649	NM_198404.3(KCTD4):c.746T>C (p.Ile249Thr)	GTF2F2, KCTD4 (I249T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411406	NM_198404.3(KCTD4):c.659T>G (p.Leu220Trp)	GTF2F2, KCTD4 (L220W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405746	NM_198404.3(KCTD4):c.578T>C (p.Ile193Thr)	GTF2F2, KCTD4 (I193T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309140	NM_198404.3(KCTD4):c.209C>T (p.Pro70Leu)	GTF2F2, KCTD4 (P70L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269205	NM_198404.3(KCTD4):c.449A>T (p.Asp150Val)	GTF2F2, KCTD4 (D150V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247517	NM_198404.3(KCTD4):c.29A>G (p.Lys10Arg)	GTF2F2, KCTD4 (K10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance