"Ambry Genetics"[submitter] AND "SMG7"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2278889	NM_001375584.1(SMG7):c.77C>T (p.Pro26Leu)	SMG7 (P26L +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531133	NM_001375584.1(SMG7):c.83A>C (p.Glu28Ala)	SMG7 (E28A +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260914	NM_001375584.1(SMG7):c.136A>G (p.Thr46Ala)	SMG7 (T4A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521234	NM_001375584.1(SMG7):c.710G>A (p.Arg237Gln)	SMG7 (R195Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555364	NM_001375584.1(SMG7):c.804G>T (p.Lys268Asn)	SMG7 (K226N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510962	NM_001375584.1(SMG7):c.833A>G (p.Glu278Gly)	SMG7 (E222G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239241	NM_001375584.1(SMG7):c.933T>G (p.Phe311Leu)	SMG7 (F255L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362046	NM_001375584.1(SMG7):c.938A>G (p.Asn313Ser)	SMG7 (N257S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209289	NM_001375584.1(SMG7):c.1008G>A (p.Met336Ile)	SMG7 (M318I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508357	NM_001375584.1(SMG7):c.1034G>A (p.Cys345Tyr)	SMG7 (C289Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523425	NM_001375584.1(SMG7):c.1067A>G (p.Tyr356Cys)	SMG7 (Y314C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468330	NM_001375584.1(SMG7):c.1313A>G (p.Lys438Arg)	SMG7 (K382R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262698	NM_001375584.1(SMG7):c.1553A>G (p.Asp518Gly)	SMG7 (D476G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342627	NM_001375584.1(SMG7):c.1555G>C (p.Gly519Arg)	SMG7 (G519R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515618	NM_001375584.1(SMG7):c.1556G>T (p.Gly519Val)	SMG7 (G519V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341785	NM_001375584.1(SMG7):c.1556G>A (p.Gly519Glu)	SMG7 (G463E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351128	NM_001375584.1(SMG7):c.1661G>A (p.Arg554Gln)	SMG7 (R498Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519357	NM_001375584.1(SMG7):c.1925G>C (p.Ser642Thr)	SMG7 (S540T +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340645	NM_001375584.1(SMG7):c.1979G>C (p.Ser660Thr)	SMG7 (S572T +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508358	NM_001375584.1(SMG7):c.2228C>A (p.Pro743His)	SMG7 (P641H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218218	NM_001375584.1(SMG7):c.2314A>C (p.Thr772Pro)	SMG7 (T670P +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227252	NM_001375584.1(SMG7):c.2500T>A (p.Ser834Thr)	SMG7 (S732T +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480788	NM_001375584.1(SMG7):c.2632G>T (p.Ala878Ser)	SMG7 (A814S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346571	NM_001375584.1(SMG7):c.2668A>G (p.Ile890Val)	SMG7 (I788V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542945	NM_001375584.1(SMG7):c.2669T>C (p.Ile890Thr)	SMG7 (I802T +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558329	NM_001375584.1(SMG7):c.2671G>C (p.Asp891His)	SMG7 (D803H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334222	NM_001375584.1(SMG7):c.2710G>A (p.Glu904Lys)	SMG7 (E887K +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262973	NM_001375584.1(SMG7):c.2738T>G (p.Phe913Cys)	SMG7 (F849C +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322105	NM_001375584.1(SMG7):c.2751G>T (p.Lys917Asn)	SMG7 (K871N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351197	NM_001375584.1(SMG7):c.2762T>G (p.Leu921Arg)	SMG7 (L819R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617412	NM_001375584.1(SMG7):c.2820T>G (p.Ile940Met)	SMG7 (I838M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289877	NM_001375584.1(SMG7):c.2860C>A (p.Pro954Thr)	SMG7 (P912T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286851	NM_001375584.1(SMG7):c.2867C>T (p.Ala956Val)	SMG7 (A868V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550476	NM_001375584.1(SMG7):c.2956G>A (p.Gly986Arg)	SMG7 (G872R +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615400	NM_001375584.1(SMG7):c.3060G>A (p.Met1020Ile)	SMG7 (M1003I +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523628	NM_001375584.1(SMG7):c.3060G>T (p.Met1020Ile)	SMG7 (M1049I +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608614	NM_001375584.1(SMG7):c.3268A>G (p.Arg1090Gly)	SMG7 (R1002G +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595524	NM_001375584.1(SMG7):c.3316T>A (p.Phe1106Ile)	SMG7 (F1014I +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272752	NM_001375584.1(SMG7):c.*1143T>C	SMG7 (L1137P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594503	NM_001375584.1(SMG7):c.*1145C>T	SMG7 (P1138S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 40