"GeneDx"[submitter] AND "UPF1"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1257184	NC_000019.10:g.18831773A>G	LOC130064030, UPF1	Single nucleotide variant	not provided	GBenign
Select item 1228122	NM_002911.4(UPF1):c.-131C>G	UPF1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2579588	NM_002911.4(UPF1):c.64G>C (p.Glu22Gln)	UPF1 (E22Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268198	NM_002911.4(UPF1):c.138G>A (p.Thr46=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1263694	NM_002911.4(UPF1):c.232-90G>A	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712749	NM_002911.4(UPF1):c.316G>C (p.Glu106Gln)	UPF1 (E106Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663551	NM_002911.4(UPF1):c.370dup (p.Ser124fs)	UPF1 (S124fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2582044	NM_002911.4(UPF1):c.487G>A (p.Ala163Thr)	UPF1 (A163T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723589	NM_002911.4(UPF1):c.554A>G (p.Asn185Ser)	UPF1 (N185S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363309	NM_002911.4(UPF1):c.599A>G (p.Lys200Arg)	UPF1 (K200R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582021	NM_002911.4(UPF1):c.641C>G (p.Ala214Gly)	UPF1 (A214G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370829	NM_002911.4(UPF1):c.810+2dup	UPF1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3253291	NM_002911.4(UPF1):c.1157-3C>A	UPF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1266354	NM_002911.4(UPF1):c.1266-32T>G	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369531	NM_002911.4(UPF1):c.1325A>G (p.Tyr442Cys)	UPF1 (Y442C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575542	NM_002911.4(UPF1):c.1340G>A (p.Gly447Asp)	UPF1 (G447D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368925	NM_002911.4(UPF1):c.1366A>G (p.Lys456Glu)	UPF1 (K456E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253414	NM_002911.4(UPF1):c.1382A>G (p.Lys461Arg)	UPF1 (K461R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504845	NM_002911.4(UPF1):c.1435G>T (p.Val479Leu)	UPF1 (V479L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244145	NM_002911.4(UPF1):c.1544+108G>A	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3373664	NM_002911.4(UPF1):c.1595A>G (p.Glu532Gly)	UPF1 (E532G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363437	NM_002911.4(UPF1):c.1822A>C (p.Met608Leu)	UPF1 (M608L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581943	NM_002911.4(UPF1):c.1844G>A (p.Cys615Tyr)	UPF1 (C615Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243123	NM_002911.4(UPF1):c.1860C>T (p.Ala620=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2446306	NM_002911.4(UPF1):c.1906G>A (p.Asp636Asn)	UPF1 (D636N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237930	NM_002911.4(UPF1):c.2300+75T>C	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804237	NM_002911.4(UPF1):c.2381C>T (p.Thr794Met)	UPF1 (T794M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504403	NM_002911.4(UPF1):c.2428A>C (p.Ser810Arg)	UPF1 (S810R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244146	NM_002911.4(UPF1):c.2457+89G>A	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278724	NM_002911.4(UPF1):c.2457+217A>G	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281974	NM_002911.4(UPF1):c.2458-228T>C	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295005	NM_002911.4(UPF1):c.2458-140G>A	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278757	NM_002911.4(UPF1):c.2458-85G>T	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259329	NM_002911.4(UPF1):c.2601-188G>C	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274676	NM_002911.4(UPF1):c.2601-47A>G	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2572679	NM_002911.4(UPF1):c.2713A>C (p.Asn905His)	UPF1 (N905H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369490	NM_002911.4(UPF1):c.2773C>A (p.Pro925Thr)	UPF1 (P925T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136158	NM_002911.4(UPF1):c.2791A>G (p.Thr931Ala)	UPF1 (T931A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378256	NM_002911.4(UPF1):c.2867C>T (p.Ser956Phe)	UPF1 (S956F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580103	NM_002911.4(UPF1):c.3352T>C (p.Tyr1118His)	UPF1 (Y1118H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244327	NM_002911.4(UPF1):c.*3+10C>G	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287818	NM_002911.4(UPF1):c.*3+13G>A	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221338	NC_000019.10:g.18868515A>C	UPF1	Single nucleotide variant	not provided	GBenign
Select item 6747	NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	CERS1, GDF1 +1 more (C227*)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-RELATED DISORDERS +3 more	GPathogenic/Likely pathogenic
Select item 3360850	NM_002911.4(UPF1):c.2851A>T (p.Ser951Cys)	UPF1 (S951C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359413	NM_002911.4(UPF1):c.2191G>A (p.Val731Met)	UPF1 (V731M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 46