Related gene-specific medical variations for Gene (Select 5118) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210408	NM_002593.4(PCOLCE):c.72G>C (p.Gln24His)	PCOLCE, PCOLCE-AS1 (Q24H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210406	NM_002593.4(PCOLCE):c.262C>G (p.Pro88Ala)	PCOLCE, PCOLCE-AS1 (P88A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210405	NM_002593.4(PCOLCE):c.212A>G (p.Glu71Gly)	PCOLCE, PCOLCE-AS1 (E71G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210404	NM_002593.4(PCOLCE):c.20C>A (p.Ala7Asp)	PCOLCE, PCOLCE-AS1 (A7D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210403	NM_002593.4(PCOLCE):c.192C>G (p.Ile64Met)	PCOLCE, PCOLCE-AS1 (I64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210402	NM_002593.4(PCOLCE):c.179A>G (p.Asn60Ser)	PCOLCE, PCOLCE-AS1 (N60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363397	NM_002593.4(PCOLCE):c.125A>T (p.Lys42Met)	PCOLCE, PCOLCE-AS1 (K42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347165	NM_002593.4(PCOLCE):c.670G>T (p.Ala224Ser)	LOC129998962, PCOLCE (A224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272863	NM_002593.4(PCOLCE):c.256C>A (p.Leu86Met)	PCOLCE, PCOLCE-AS1 (L86M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2213754	NM_002593.4(PCOLCE):c.175C>G (p.Pro59Ala)	PCOLCE, PCOLCE-AS1 (P59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212986	NM_002593.4(PCOLCE):c.17C>G (p.Thr6Arg)	PCOLCE, PCOLCE-AS1 (T6R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance