Related gene-specific medical variations for Gene (Select 25770) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116256	NM_001039570.3(KREMEN1):c.41C>T (p.Ala14Val)	C22orf31, KREMEN1 (A14V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2576945	NM_001039570.3(KREMEN1):c.-4del	C22orf31, KREMEN1	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1666871	NM_001039570.3(KREMEN1):c.12A>C (p.Pro4=)	C22orf31, KREMEN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1559554	NM_001039570.3(KREMEN1):c.97+12C>T	C22orf31, KREMEN1	Single nucleotide variant (intron variant)	Ectodermal dysplasia 13, hair/tooth type +1 more	GBenign/Likely benign
Select item 983323	NM_015370.2(C22orf31):c.53G>A (p.Arg18Gln)	C22orf31 (R18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability	GUncertain significance
Select item 983322	NM_015370.2(C22orf31):c.127G>T (p.Ala43Ser)	C22orf31 (A43S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance

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