Related gene-specific medical variations for Gene (Select 54799) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2603063	NM_016001.3(UTP18):c.230G>A (p.Arg77His)	MBTD1, UTP18 (R77H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521510	NM_016001.3(UTP18):c.94G>A (p.Gly32Arg)	MBTD1, UTP18 (G32R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2380868	NM_016001.3(UTP18):c.257C>T (p.Ala86Val)	MBTD1, UTP18 (A86V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375421	NM_016001.3(UTP18):c.47G>A (p.Gly16Glu)	UTP18, MBTD1 (G16E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268932	NM_016001.3(UTP18):c.11A>G (p.Glu4Gly)	UTP18, MBTD1 (E4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244173	NM_016001.3(UTP18):c.66G>T (p.Lys22Asn)	MBTD1, UTP18 (K22N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243820	NM_016001.3(UTP18):c.337C>T (p.Pro113Ser)	LOC130061205, MBTD1 +1 more (P113S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar