ClinVar for Gene (Select 5976) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381429	NM_002911.4(UPF1):c.1565C>T (p.Pro522Leu)	UPF1 (P522L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 3370829	NM_002911.4(UPF1):c.810+2dup	UPF1	Duplication (splice donor variant)	not provided	GUncertain significance
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 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 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 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 3363309	NM_002911.4(UPF1):c.599A>G (p.Lys200Arg)	UPF1 (K200R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 3331132	NM_002911.4(UPF1):c.388G>A (p.Asp130Asn)	UPF1 (D130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331131	NM_002911.4(UPF1):c.1520A>G (p.Tyr507Cys)	UPF1 (Y507C +1 more)	Single nucleotide variant (missense variant)	not specified	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 3253291	NM_002911.4(UPF1):c.1157-3C>A	UPF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3186763	NM_002911.4(UPF1):c.773C>T (p.Thr258Met)	UPF1 (T258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186762	NM_002911.4(UPF1):c.3010C>T (p.Pro1004Ser)	UPF1 (P1015S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186761	NM_002911.4(UPF1):c.2122C>G (p.Leu708Val)	UPF1 (L708V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186760	NM_002911.4(UPF1):c.1947C>T (p.Pro649=)	UPF1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3186758	NM_002911.4(UPF1):c.1094G>A (p.Arg365Gln)	UPF1 (R365Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 3048105	NM_002911.4(UPF1):c.3351G>A (p.Gln1117=)	UPF1	Single nucleotide variant (synonymous variant)	UPF1-related disorder	GLikely benign
Select item 2663906	NM_001492.6(GDF1):c.[1008C>G];[681C>A]			Right atrial isomerism	GLikely pathogenic
Select item 2663905	NM_001492.6(GDF1):c.1008C>G (p.Cys336Trp)	CERS1, GDF1 +1 more (C336W)	Single nucleotide variant (3 prime UTR variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2663551	NM_002911.4(UPF1):c.370dup (p.Ser124fs)	UPF1 (S124fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2649601	NM_002911.4(UPF1):c.3177C>T (p.Ile1059=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649600	NM_002911.4(UPF1):c.3135G>A (p.Ala1045=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649599	NM_002911.4(UPF1):c.1825-6C>T	UPF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2649598	NM_002911.4(UPF1):c.1803C>T (p.Thr601=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649597	NM_002911.4(UPF1):c.1503G>A (p.Thr501=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649596	NM_002911.4(UPF1):c.1194C>T (p.Ser398=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649595	NM_002911.4(UPF1):c.681G>A (p.Ser227=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649594	NM_002911.4(UPF1):c.258C>T (p.Asn86=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649593	NM_002911.4(UPF1):c.240C>T (p.Pro80=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2582021	NM_002911.4(UPF1):c.641C>G (p.Ala214Gly)	UPF1 (A214G)	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 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 2579588	NM_002911.4(UPF1):c.64G>C (p.Glu22Gln)	UPF1 (E22Q)	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 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 2570673	NM_002911.4(UPF1):c.2080C>T (p.Arg694Trp)	UPF1 (R694W +1 more)	Single nucleotide variant (missense variant)	Mild global developmental delay +5 more	GUncertain significance
Select item 2547529	NM_002911.4(UPF1):c.1426G>T (p.Val476Phe)	UPF1 (V487F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535798	NM_002911.4(UPF1):c.2863C>T (p.Pro955Ser)	UPF1 (P955S +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 2490361	NM_002911.4(UPF1):c.2312C>T (p.Ala771Val)	UPF1 (A771V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2380288	NM_002911.4(UPF1):c.2896A>C (p.Ile966Leu)	UPF1 (I977L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312754	NM_002911.4(UPF1):c.140C>T (p.Pro47Leu)	UPF1 (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309709	NM_002911.4(UPF1):c.334A>G (p.Thr112Ala)	UPF1 (T112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291217	NM_002911.4(UPF1):c.1801A>G (p.Thr601Ala)	UPF1 (T601A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290202	NM_002911.4(UPF1):c.154G>A (p.Gly52Ser)	UPF1 (G52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276460	NM_002911.4(UPF1):c.1903A>G (p.Ile635Val)	UPF1 (I646V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263868	NM_002911.4(UPF1):c.3052G>A (p.Gly1018Arg)	UPF1 (G1018R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254558	NM_002911.4(UPF1):c.1195G>A (p.Val399Met)	UPF1 (V410M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248523	NM_002911.4(UPF1):c.3005A>G (p.Asn1002Ser)	UPF1 (N1002S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241904	NM_002911.4(UPF1):c.1789G>A (p.Ala597Thr)	UPF1 (A608T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224986	NM_002911.4(UPF1):c.2836G>A (p.Val946Ile)	UPF1 (V957I +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 1723589	NM_002911.4(UPF1):c.554A>G (p.Asn185Ser)	UPF1 (N185S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1701362	NM_002911.4(UPF1):c.2279C>T (p.Ser760Leu)	UPF1 (S760L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443735	NC_000019.9:g.(?_18893725)_(19312528_?)del	ARMC6, BORCS8 +13 more	Deletion	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1343167	NM_002911.4(UPF1):c.2138C>T (p.Ser713Phe)	UPF1 (S713F +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 1295005	NM_002911.4(UPF1):c.2458-140G>A	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 1281974	NM_002911.4(UPF1):c.2458-228T>C	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 1278724	NM_002911.4(UPF1):c.2457+217A>G	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 1268198	NM_002911.4(UPF1):c.138G>A (p.Thr46=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266354	NM_002911.4(UPF1):c.1266-32T>G	UPF1	Single nucleotide variant (intron 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 1259329	NM_002911.4(UPF1):c.2601-188G>C	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257184	NC_000019.10:g.18831773A>G	LOC130064030, UPF1	Single nucleotide variant	not provided	GBenign
Select item 1244327	NM_002911.4(UPF1):c.*3+10C>G	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244146	NM_002911.4(UPF1):c.2457+89G>A	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244145	NM_002911.4(UPF1):c.1544+108G>A	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243123	NM_002911.4(UPF1):c.1860C>T (p.Ala620=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1237930	NM_002911.4(UPF1):c.2300+75T>C	UPF1	Single nucleotide variant (intron 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 1221338	NC_000019.10:g.18868515A>C	UPF1	Single nucleotide variant	not provided	GBenign
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 930204	NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg)	UPF1 (Q830R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 790755	NM_002911.4(UPF1):c.1635C>T (p.Cys545=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 788468	NM_002911.4(UPF1):c.1251G>A (p.Ser417=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788142	NM_002911.4(UPF1):c.1869G>A (p.Pro623=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784714	NM_002911.4(UPF1):c.3134C>T (p.Ala1045Val)	UPF1 (A1045V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777295	NM_002911.4(UPF1):c.2247C>T (p.Tyr749=)	UPF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749834	NM_002911.4(UPF1):c.3237+8C>T	UPF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 711530	NM_002911.4(UPF1):c.630-10C>T	UPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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