"Ambry Genetics"[submitter] AND "C1QTNF7-AS1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2485987	NM_001177382.2(CPEB2):c.1704T>G (p.Ser568Arg)	C1QTNF7-AS1, CPEB2 (S568R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271840	NM_001177382.2(CPEB2):c.1755T>G (p.His585Gln)	CPEB2, C1QTNF7-AS1 (H585Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348893	NM_001177382.2(CPEB2):c.1762A>G (p.Thr588Ala)	C1QTNF7-AS1, CPEB2 (T588A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465946	NM_001177382.2(CPEB2):c.1861A>G (p.Thr621Ala)	C1QTNF7-AS1, CPEB2 (T621A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547923	NM_001177382.2(CPEB2):c.1987C>T (p.Leu663Phe)	C1QTNF7-AS1, CPEB2 (L663F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289905	NM_001177382.2(CPEB2):c.2090T>C (p.Ile697Thr)	C1QTNF7-AS1, CPEB2 (I670T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333401	NM_001177382.2(CPEB2):c.2123A>C (p.Lys708Thr)	CPEB2, C1QTNF7-AS1 (K678T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231558	NM_001177382.2(CPEB2):c.2530G>A (p.Asp844Asn)	CPEB2, C1QTNF7-AS1 (D809N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219679	NM_001177382.2(CPEB2):c.2719C>T (p.Arg907Trp)	CPEB2, C1QTNF7-AS1 (R872W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539878	NM_001177382.2(CPEB2):c.2776C>T (p.Pro926Ser)	C1QTNF7-AS1, CPEB2 (P888S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358890	NM_001177382.2(CPEB2):c.2972A>G (p.Asn991Ser)	CPEB2, C1QTNF7-AS1 (N961S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance