KRBOX4[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60305	GRCh38/hg38 Xp11.3(chrX:46456409-46476928)x3	KRBOX4	Copy number gain	See cases	GUncertain significance
Select item 2479212	NM_001129898.2(KRBOX4):c.155C>T (p.Ala52Val)	KRBOX4 (A52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356355	NM_001129898.2(KRBOX4):c.192A>C (p.Glu64Asp)	KRBOX4 (E64D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660378	NM_001129898.2(KRBOX4):c.227G>A (p.Arg76Gln)	KRBOX4 (R76Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1339898	NM_001129898.2(KRBOX4):c.254-1610_254-1608delinsT	KRBOX4	Indel (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 3116242	NM_001129898.2(KRBOX4):c.262C>G (p.Gln88Glu)	KRBOX4 (Q83E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551907	NM_001129898.2(KRBOX4):c.331G>A (p.Gly111Ser)	KRBOX4 (G111S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551908	NM_001129898.2(KRBOX4):c.351T>A (p.Asp117Glu)	KRBOX4 (D112E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218192	NM_001129898.2(KRBOX4):c.461A>C (p.Lys154Thr)	KRBOX4 (K149T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377748	NM_001129898.2(KRBOX4):c.469T>C (p.Phe157Leu)	KRBOX4 (F152L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance