"Ambry Genetics"[submitter] AND "TMED8"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326608	NM_213601.3(TMED8):c.937C>T (p.Arg313Cys)	TMED8 (R245C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523998	NM_213601.3(TMED8):c.855C>A (p.His285Gln)	TMED8 (H290Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178372	NM_213601.3(TMED8):c.815G>A (p.Arg272His)	TMED8 (R204H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326609	NM_213601.3(TMED8):c.808C>T (p.Arg270Trp)	TMED8 (R275W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368120	NM_213601.3(TMED8):c.577A>G (p.Ile193Val)	TMED8 (I125V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178371	NM_213601.3(TMED8):c.560G>A (p.Arg187His)	TMED8 (R192H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383954	NM_213601.3(TMED8):c.544C>T (p.Arg182Cys)	TMED8 (R182C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328439	NM_213601.3(TMED8):c.434T>C (p.Leu145Pro)	TMED8 (L145P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614018	NM_213601.3(TMED8):c.374T>C (p.Ile125Thr)	TMED8 (I125T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178369	NM_213601.3(TMED8):c.350A>C (p.Gln117Pro)	TMED8 (Q122P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229173	NM_213601.3(TMED8):c.323A>G (p.Asn108Ser)	TMED8 (N108S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469273	NM_213601.3(TMED8):c.289G>A (p.Asp97Asn)	TMED8 (D29N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336799	NM_213601.3(TMED8):c.281T>A (p.Val94Glu)	TMED8 (V94E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318911	NM_213601.3(TMED8):c.259C>T (p.Pro87Ser)	TMED8 (P19S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326610	NM_213601.3(TMED8):c.244C>T (p.Arg82Trp)	TMED8 (R82W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178368	NM_213601.3(TMED8):c.214C>T (p.Pro72Ser)	TMED8 (P4S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521843	NM_213601.3(TMED8):c.97G>T (p.Gly33Trp)	LOC130056179, TMED8 (G33W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262086	NM_213601.3(TMED8):c.43C>T (p.Pro15Ser)	LOC130056179, TMED8 (P15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233938	NM_213601.3(TMED8):c.4T>G (p.Ser2Ala)	LOC130056179, TMED8 (S2A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance