Related gene-specific medical variations for Gene (Select 140880) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269954	NM_130794.2(CST11):c.224G>A (p.Arg75Lys)	CST11, CSTL1 (R75K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078400	NM_130794.2(CST11):c.61G>C (p.Ala21Pro)	CST11, CSTL1 (A21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078399	NM_130794.2(CST11):c.278C>A (p.Thr93Asn)	CST11, CSTL1 (T93N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078398	NM_130794.2(CST11):c.110T>C (p.Val37Ala)	CST11, CSTL1 (V37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618620	NM_130794.2(CST11):c.277A>G (p.Thr93Ala)	CST11, CSTL1 (T93A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543210	NM_130794.2(CST11):c.198G>T (p.Arg66Ser)	CST11, CSTL1 (R66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509839	NM_130794.2(CST11):c.199A>T (p.Ile67Phe)	CST11, CSTL1 (I67F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472823	NM_130794.2(CST11):c.412G>T (p.Asp138Tyr)	CST11, CSTL1 (D103Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456771	NM_130794.2(CST11):c.157G>A (p.Asp53Asn)	CST11, CSTL1 (D53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366843	NM_130794.2(CST11):c.8C>G (p.Ala3Gly)	CST11, CSTL1 (A3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352016	NM_130794.2(CST11):c.100G>A (p.Val34Ile)	CST11, CSTL1 (V34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283421	NM_130794.2(CST11):c.73C>A (p.Gln25Lys)	CST11, CSTL1 (Q25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance