CST6[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2491428	NM_001323.4(CST6):c.7C>G (p.Arg3Gly)	CST6 (R3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040253	NM_001323.4(CST6):c.8G>T (p.Arg3Leu)	CST6 (R3L)	Single nucleotide variant (missense variant)	CST6-related disorder	GBenign
Select item 716315	NM_001323.4(CST6):c.18C>T (p.Leu6=)	CST6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555240	NM_001323.4(CST6):c.43G>A (p.Val15Ile)	CST6 (V15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334506	NM_001323.4(CST6):c.62C>T (p.Ala21Val)	CST6 (A21V)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 15, hypohidrotic/hair type	GUncertain significance
Select item 2405887	NM_001323.4(CST6):c.70C>G (p.Arg24Gly)	CST6 (R24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252408	NM_001323.4(CST6):c.85C>G (p.Arg29Gly)	CST6 (R29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078414	NM_001323.4(CST6):c.111A>T (p.Glu37Asp)	CST6 (E37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613363	NM_001323.4(CST6):c.202T>C (p.Tyr68His)	CST6 (Y68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474396	NM_001323.4(CST6):c.269C>T (p.Thr90Met)	CST6 (T90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339303	NM_001323.4(CST6):c.295C>T (p.Arg99Cys)	CST6 (R99C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078416	NM_001323.4(CST6):c.325G>A (p.Asp109Asn)	CST6 (D109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 666253	NM_001323.4(CST6):c.361C>T (p.Gln121Ter)	CST6 (Q121*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 15, hypohidrotic/hair type	GPathogenic
Select item 3064534	NM_001323.4(CST6):c.418C>T (p.Gln140Ter)	CST6 (Q140*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 15, hypohidrotic/hair type	GUncertain significance