"Ambry Genetics"[submitter] AND "MXD1"[gene] - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2254983	NM_002357.4(MXD1):c.122G>A (p.Arg41Lys)	MXD1 (R41K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469116	NM_002357.4(MXD1):c.241G>C (p.Gly81Arg)	MXD1, ASPRV1 (G81R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530277	NM_002357.4(MXD1):c.380G>A (p.Arg127Gln)	ASPRV1, MXD1 (R127Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369081	NM_002357.4(MXD1):c.448G>A (p.Val150Ile)	ASPRV1, MXD1 (V150I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366149	NM_002357.4(MXD1):c.544A>G (p.Ser182Gly)	ASPRV1, MXD1 (S181G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602345	NM_002357.4(MXD1):c.586G>A (p.Gly196Ser)	ASPRV1, MXD1 (G186S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518965	NM_002357.4(MXD1):c.611C>T (p.Thr204Ile)	ASPRV1, MXD1 (T194I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333742	NM_002357.4(MXD1):c.630G>T (p.Lys210Asn)	ASPRV1, MXD1 (K200N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance