"Ambry Genetics"[submitter] AND "SMG8"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2402746	NM_018149.7(SMG8):c.8G>C (p.Gly3Ala)	SMG8 (G3A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369759	NM_018149.7(SMG8):c.13G>A (p.Val5Met)	SMG8 (V5M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228890	NM_018149.7(SMG8):c.41C>T (p.Ala14Val)	SMG8 (A14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328816	NM_018149.7(SMG8):c.179T>C (p.Leu60Pro)	SMG8 (L60P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320964	NM_018149.7(SMG8):c.182A>T (p.Asn61Ile)	SMG8 (N61I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485506	NM_018149.7(SMG8):c.350G>C (p.Arg117Pro)	SMG8 (R117P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556034	NM_018149.7(SMG8):c.408C>A (p.Ser136Arg)	SMG8 (S136R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320957	NM_018149.7(SMG8):c.476A>G (p.Asn159Ser)	SMG8 (N159S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320963	NM_018149.7(SMG8):c.637G>C (p.Val213Leu)	SMG8 (V213L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613411	NM_018149.7(SMG8):c.643C>A (p.Pro215Thr)	SMG8 (P215T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2060063	NM_018149.7(SMG8):c.680T>G (p.Phe227Cys)	SMG8 (F227C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3166545	NM_018149.7(SMG8):c.681C>G (p.Phe227Leu)	SMG8 (F227L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510949	NM_018149.7(SMG8):c.748G>C (p.Val250Leu)	SMG8 (V250L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032972	NM_018149.7(SMG8):c.857C>G (p.Ala286Gly)	SMG8 (A286G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166540	NM_018149.7(SMG8):c.1015G>C (p.Val339Leu)	SMG8 (V339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297607	NM_018149.7(SMG8):c.1015G>A (p.Val339Ile)	SMG8 (V339I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033024	NM_018149.7(SMG8):c.1057G>C (p.Asp353His)	SMG8 (D353H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166541	NM_018149.7(SMG8):c.1067G>A (p.Arg356Lys)	SMG8 (R356K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487551	NM_018149.7(SMG8):c.1133G>A (p.Arg378Gln)	SMG8 (R378Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166542	NM_018149.7(SMG8):c.1155C>G (p.His385Gln)	SMG8 (H385Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2601949	NM_018149.7(SMG8):c.1337A>T (p.Gln446Leu)	SMG8 (Q446L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620876	NM_018149.7(SMG8):c.1351G>C (p.Ala451Pro)	SMG8 (A451P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320960	NM_018149.7(SMG8):c.1354G>C (p.Ala452Pro)	SMG8 (A452P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271226	NM_018149.7(SMG8):c.1411A>G (p.Thr471Ala)	SMG8 (T471A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496099	NM_018149.7(SMG8):c.1439G>A (p.Ser480Asn)	SMG8 (S480N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606580	NM_018149.7(SMG8):c.1598G>A (p.Arg533Gln)	SMG8 (R533Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480118	NM_018149.7(SMG8):c.1631T>C (p.Phe544Ser)	SMG8 (F544S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320958	NM_018149.7(SMG8):c.1811G>A (p.Arg604Gln)	SMG8 (R604Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278209	NM_018149.7(SMG8):c.1975G>C (p.Asp659His)	SMG8 (D659H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544831	NM_018149.7(SMG8):c.2050C>T (p.Pro684Ser)	SMG8 (P684S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354903	NM_018149.7(SMG8):c.2144C>T (p.Ala715Val)	SMG8 (A715V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166543	NM_018149.7(SMG8):c.2149G>A (p.Gly717Arg)	SMG8 (G717R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320959	NM_018149.7(SMG8):c.2284A>G (p.Lys762Glu)	SMG8 (K762E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257077	NM_018149.7(SMG8):c.2336T>C (p.Phe779Ser)	SMG8 (F779S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485264	NM_018149.7(SMG8):c.2483G>A (p.Arg828Lys)	SMG8 (R828K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491803	NM_018149.7(SMG8):c.2663C>T (p.Pro888Leu)	SMG8 (P888L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250844	NM_018149.7(SMG8):c.2723T>C (p.Met908Thr)	SMG8 (M908T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 37