Related gene-specific medical variations for Gene (Select 151516) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152077	NM_002357.4(MXD1):c.461G>A (p.Arg154His)	ASPRV1, MXD1 (R144H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130512	NM_152792.4(ASPRV1):c.-161A>T	ASPRV1, LOC122757966 (Q31L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3130509	NM_152792.3(ASPRV1):c.23T>C (p.Leu8Pro)	ASPRV1, LOC122757966 (L8P)	Single nucleotide variant (missense variant +1 more)	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)	not specified	GUncertain significance
Select item 2530277	NM_002357.4(MXD1):c.380G>A (p.Arg127Gln)	ASPRV1, MXD1 (R127Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518965	NM_002357.4(MXD1):c.611C>T (p.Thr204Ile)	ASPRV1, MXD1 (T194I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469116	NM_002357.4(MXD1):c.241G>C (p.Gly81Arg)	ASPRV1, MXD1 (G81R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369081	NM_002357.4(MXD1):c.448G>A (p.Val150Ile)	ASPRV1, MXD1 (V150I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366149	NM_002357.4(MXD1):c.544A>G (p.Ser182Gly)	ASPRV1, MXD1 (S181G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333742	NM_002357.4(MXD1):c.630G>T (p.Lys210Asn)	ASPRV1, MXD1 (K200N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316322	NM_152792.3(ASPRV1):c.20G>A (p.Ser7Asn)	ASPRV1, LOC122757966 (S7N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210627	NM_152792.4(ASPRV1):c.-126G>A	ASPRV1, LOC122757966 (A43T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 161818	NM_152792.4(ASPRV1):c.-158C>T	LOC122757966, ASPRV1 (P32L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance