"Ambry Genetics"[submitter] AND "C1QTNF9B"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2476256	NM_001007537.3(C1QTNF9B):c.958G>A (p.Asp320Asn)	C1QTNF9B, PCOTH (D320N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527777	NM_001007537.3(C1QTNF9B):c.957C>A (p.Asp319Glu)	C1QTNF9B, PCOTH (D319E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485159	NM_001007537.3(C1QTNF9B):c.941T>C (p.Leu314Ser)	C1QTNF9B, PCOTH (L314S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321978	NM_001007537.3(C1QTNF9B):c.904T>G (p.Trp302Gly)	PCOTH, C1QTNF9B (W302G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471716	NM_001007537.3(C1QTNF9B):c.868A>G (p.Ser290Gly)	C1QTNF9B, PCOTH (L2P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2395464	NM_001007537.3(C1QTNF9B):c.841G>A (p.Val281Met)	C1QTNF9B, PCOTH (V281M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2525597	NM_001007537.3(C1QTNF9B):c.791T>A (p.Val264Glu)	C1QTNF9B, PCOTH (V264E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269454	NM_001007537.3(C1QTNF9B):c.169G>A (p.Glu57Lys)	C1QTNF9B (E57K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222895	NM_001007537.3(C1QTNF9B):c.158G>A (p.Gly53Asp)	C1QTNF9B (G53D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600504	NM_001007537.3(C1QTNF9B):c.154A>C (p.Lys52Gln)	C1QTNF9B (K52Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372009	NM_001007537.3(C1QTNF9B):c.143C>A (p.Ala48Glu)	C1QTNF9B (A48E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518333	NM_001007537.3(C1QTNF9B):c.125G>T (p.Arg42Ile)	C1QTNF9B (R42I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407110	NM_001007537.3(C1QTNF9B):c.113G>T (p.Gly38Val)	C1QTNF9B (G38V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337701	NM_001007537.3(C1QTNF9B):c.104G>A (p.Gly35Asp)	C1QTNF9B (G35D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388970	NM_001007537.3(C1QTNF9B):c.103G>A (p.Gly35Ser)	C1QTNF9B (G35S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2369696	NM_001007537.3(C1QTNF9B):c.83C>G (p.Pro28Arg)	C1QTNF9B (P28R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance