"Ambry Genetics"[submitter] AND "B3GALNT1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2348858	NM_003781.4(B3GALNT1):c.772G>C (p.Gly258Arg)	B3GALNT1 (G258R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348656	NM_003781.4(B3GALNT1):c.702C>G (p.Phe234Leu)	B3GALNT1 (F234L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262161	NM_003781.4(B3GALNT1):c.665C>A (p.Thr222Asn)	B3GALNT1 (T222N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262016	NM_003781.4(B3GALNT1):c.571G>A (p.Val191Met)	B3GALNT1 (V311M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602674	NM_003781.4(B3GALNT1):c.416T>G (p.Leu139Arg)	B3GALNT1 (L259R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225260	NM_003781.4(B3GALNT1):c.223C>T (p.His75Tyr)	B3GALNT1 (H75Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569324	NM_003781.4(B3GALNT1):c.197C>T (p.Thr66Ile)	B3GALNT1 (T186I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316034	NM_003781.4(B3GALNT1):c.62G>T (p.Ser21Ile)	B3GALNT1 (S141I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance