TESC[gene] and "single gene"[properties] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720006	NM_017899.4(TESC):c.609C>T (p.Arg203=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731115	NM_017899.4(TESC):c.603C>T (p.His201=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768589	NM_017899.4(TESC):c.502G>A (p.Val168Met)	TESC (V141M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 742597	NM_017899.4(TESC):c.495G>A (p.Ala165=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 787934	NM_017899.4(TESC):c.447C>T (p.Ile149=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 756914	NM_017899.4(TESC):c.432G>A (p.Ser144=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2240008	NM_017899.4(TESC):c.392C>T (p.Thr131Ile)	TESC (T104I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511034	NM_017899.4(TESC):c.385C>T (p.Arg129Cys)	TESC (R129C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731885	NM_017899.4(TESC):c.381C>T (p.Asp127=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2597892	NM_017899.4(TESC):c.376A>G (p.Ser126Gly)	TESC (S99G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791322	NM_017899.4(TESC):c.350-9C>A	TESC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715914	NM_017899.4(TESC):c.297C>T (p.Asp99=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2496429	NM_017899.4(TESC):c.281A>T (p.Tyr94Phe)	TESC (Y67F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325479	NM_017899.4(TESC):c.256G>C (p.Glu86Gln)	TESC (E59Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559893	NM_017899.4(TESC):c.249C>G (p.Ile83Met)	TESC (I56M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 745672	NM_017899.4(TESC):c.249C>A (p.Ile83=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2366107	NM_017899.4(TESC):c.243T>G (p.Asp81Glu)	TESC (D54E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735733	NM_017899.4(TESC):c.195C>T (p.Ala65=)	TESC	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2308039	NM_017899.4(TESC):c.161A>T (p.Glu54Val)	TESC (E54V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392016	NM_017899.4(TESC):c.76G>A (p.Glu26Lys)	TESC (E26K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176167	NM_017899.4(TESC):c.65C>T (p.Ser22Leu)	TESC (S22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325350	NM_017899.4(TESC):c.17C>T (p.Ser6Phe)	TESC (S6F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325349	NM_017899.4(TESC):c.16T>C (p.Ser6Pro)	TESC (S6P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 23