Related gene-specific medical variations for Gene (Select 6284) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315934	NM_006271.2(S100A1):c.20C>T (p.Thr7Met)	S100A1, S100A13 (T7M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315933	NM_006271.2(S100A1):c.73G>C (p.Asp25His)	S100A1, S100A13 (D25H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315932	NM_006271.2(S100A1):c.219G>C (p.Gln73His)	S100A1, S100A13 (Q73H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157381	NM_006271.2(S100A1):c.279C>G (p.Asn93Lys)	S100A1, S100A13 (N93K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065489	NM_001024211.2(S100A13):c.238_241del (p.Ile80fs)	S100A13 (I80fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2515898	NM_006271.2(S100A1):c.119C>T (p.Thr40Met)	S100A1, S100A13 (T40M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352245	NM_006271.2(S100A1):c.242C>T (p.Ala81Val)	S100A1, S100A13 (A81V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329285	NM_006271.2(S100A1):c.171G>T (p.Lys57Asn)	S100A1, S100A13 (K57N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725490	NM_006271.2(S100A1):c.60G>A (p.Ser20=)	S100A1, S100A13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign