UPF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 147372	GRCh38/hg38 10p14-13(chr10:11712990-12319959)x3	CDC123, DHTKD1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 149272	GRCh38/hg38 10p14(chr10:11738467-12180308)x1	DHTKD1, ECHDC3 +27 more	Copy number loss	See cases	GUncertain significance
Select item 758270	NM_015542.4(UPF2):c.3809+8A>T	UPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 758271	NM_015542.4(UPF2):c.3809+7C>T	UPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2613351	NM_015542.4(UPF2):c.3594C>G (p.His1198Gln)	UPF2 (H1198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248622	NM_015542.4(UPF2):c.3570G>A (p.Met1190Ile)	UPF2 (M1190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331133	NM_015542.4(UPF2):c.3388G>A (p.Gly1130Ser)	UPF2 (G1130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742441	NM_015542.4(UPF2):c.3378+8A>G	UPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2297242	NM_015542.4(UPF2):c.3361A>G (p.Met1121Val)	UPF2 (M1121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412407	NM_015542.4(UPF2):c.3316C>A (p.Pro1106Thr)	UPF2 (P1106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714446	NM_015542.4(UPF2):c.3279+4C>T	UPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2271728	NM_015542.4(UPF2):c.3224A>T (p.Asn1075Ile)	UPF2 (N1075I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322847	NM_015542.4(UPF2):c.3037C>A (p.Leu1013Ile)	UPF2 (L1013I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364041	NM_015542.4(UPF2):c.2998G>T (p.Val1000Leu)	UPF2 (V1000L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186768	NM_015542.4(UPF2):c.2908A>G (p.Ile970Val)	UPF2 (I970V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365789	NM_015542.4(UPF2):c.2888C>T (p.Thr963Ile)	UPF2 (T963I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540628	NM_015542.4(UPF2):c.2852G>A (p.Arg951His)	UPF2 (R951H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790079	NM_015542.4(UPF2):c.2850+5A>G	UPF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776497	NM_015542.4(UPF2):c.2742G>A (p.Glu914=)	UPF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3186767	NM_015542.4(UPF2):c.2593A>T (p.Asn865Tyr)	UPF2 (N865Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739858	NM_015542.4(UPF2):c.2574+7A>G	UPF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3331136	NM_015542.4(UPF2):c.2532C>A (p.His844Gln)	UPF2 (H844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331135	NM_015542.4(UPF2):c.2494G>T (p.Ala832Ser)	UPF2 (A832S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714447	NM_015542.4(UPF2):c.2371-6T>A	UPF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714448	NM_015542.4(UPF2):c.2265C>T (p.Cys755=)	UPF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2383270	NM_015542.4(UPF2):c.2225C>T (p.Ala742Val)	UPF2 (A742V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640300	NM_015542.4(UPF2):c.2068-671A>G	UPF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3331141	NM_015542.4(UPF2):c.2046T>G (p.Asn682Lys)	UPF2 (N682K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476644	NM_015542.4(UPF2):c.2044A>G (p.Asn682Asp)	UPF2 (N682D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1407764	NM_015542.4(UPF2):c.2021_2024del (p.Thr674fs)	UPF2 (T674fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3331134	NM_015542.4(UPF2):c.1957C>T (p.Arg653Trp)	UPF2 (R653W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331144	NM_015542.4(UPF2):c.1954G>A (p.Val652Ile)	UPF2 (V652I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486969	NM_015542.4(UPF2):c.1906G>A (p.Val636Ile)	UPF2 (V636I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472120	NM_015542.4(UPF2):c.1828A>G (p.Ile610Val)	UPF2 (I610V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672231	NM_015542.4(UPF2):c.1771T>A (p.Phe591Ile)	UPF2 (F591I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2532336	NM_015542.4(UPF2):c.1665T>A (p.Asp555Glu)	UPF2 (D555E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774208	NM_015542.4(UPF2):c.1561G>C (p.Glu521Gln)	UPF2 (E521Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1383875	NM_015542.4(UPF2):c.1548T>A (p.Asp516Glu)	UPF2 (D516E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3331142	NM_015542.4(UPF2):c.1540A>G (p.Ser514Gly)	UPF2 (S514G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331143	NM_015542.4(UPF2):c.1527T>A (p.Asn509Lys)	UPF2 (N509K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555884	NM_015542.4(UPF2):c.1526A>G (p.Asn509Ser)	UPF2 (N509S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235337	NM_015542.4(UPF2):c.1484C>G (p.Ser495Cys)	UPF2 (S495C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331137	NM_015542.4(UPF2):c.1483T>C (p.Ser495Pro)	UPF2 (S495P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739223	NM_015542.4(UPF2):c.1470T>C (p.Cys490=)	UPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3186764	NM_015542.4(UPF2):c.1374A>G (p.Ile458Met)	UPF2 (I458M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263258	NM_015542.4(UPF2):c.1358A>G (p.Asp453Gly)	UPF2 (D453G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514157	NM_015542.4(UPF2):c.1298C>T (p.Thr433Ile)	UPF2 (T433I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2752383	NM_015542.4(UPF2):c.1193A>G (p.Gln398Arg)	UPF2 (Q398R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2344031	NM_015542.4(UPF2):c.1148G>A (p.Arg383His)	UPF2 (R383H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251467	NM_015542.4(UPF2):c.1147C>T (p.Arg383Cys)	UPF2 (R383C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548821	NM_015542.4(UPF2):c.1006T>A (p.Leu336Met)	UPF2 (L336M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541238	NM_015542.4(UPF2):c.820A>G (p.Ile274Val)	UPF2 (I274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186770	NM_015542.4(UPF2):c.779C>T (p.Thr260Ile)	UPF2 (T260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229755	NM_015542.4(UPF2):c.673C>G (p.Leu225Val)	UPF2 (L225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319464	NM_015542.4(UPF2):c.634G>A (p.Ala212Thr)	UPF2 (A212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719186	NM_015542.4(UPF2):c.573T>C (p.His191=)	UPF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2262232	NM_015542.4(UPF2):c.506A>G (p.Lys169Arg)	UPF2 (K169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186769	NM_015542.4(UPF2):c.487C>T (p.Arg163Cys)	UPF2 (R163C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718772	NM_015542.4(UPF2):c.354T>C (p.Ala118=)	UPF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2387300	NM_015542.4(UPF2):c.347A>C (p.Glu116Ala)	UPF2 (E116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367948	NM_015542.4(UPF2):c.331C>T (p.Arg111Cys)	UPF2 (R111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489933	NM_015542.4(UPF2):c.302A>G (p.Glu101Gly)	UPF2 (E101G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729244	NM_015542.4(UPF2):c.268G>A (p.Glu90Lys)	UPF2 (E90K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3331140	NM_015542.4(UPF2):c.212A>G (p.Glu71Gly)	UPF2 (E71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186766	NM_015542.4(UPF2):c.187G>T (p.Asp63Tyr)	UPF2 (D63Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330326	NM_015542.4(UPF2):c.184G>A (p.Asp62Asn)	UPF2 (D62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186765	NM_015542.4(UPF2):c.143A>G (p.Glu48Gly)	UPF2 (E48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740491	NM_015542.4(UPF2):c.135C>G (p.Ala45=)	UPF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2331814	NM_015542.4(UPF2):c.118G>A (p.Asp40Asn)	UPF2 (D40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996716	NM_015542.4(UPF2):c.91G>T (p.Val31Leu)	UPF2 (V31L)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 2513646	NM_015542.4(UPF2):c.89C>T (p.Thr30Ile)	UPF2 (T30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331139	NM_015542.4(UPF2):c.85C>T (p.Arg29Trp)	UPF2 (R29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383476	NM_015542.4(UPF2):c.76A>G (p.Ser26Gly)	UPF2 (S26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476585	NM_015542.4(UPF2):c.46T>C (p.Ser16Pro)	UPF2 (S16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377247	NM_015542.4(UPF2):c.14G>A (p.Arg5His)	UPF2 (R5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3063143	GRCh37/hg19 10p14(chr10:12081406-12163914)x3	DHTKD1, UPF2	Copy number gain	not specified	GUncertain significance
Select item 3063134	GRCh37/hg19 10p14(chr10:10296118-11974769)x1	CELF2, ECHDC3 +3 more	Copy number loss	not specified	GUncertain significance
Select item 2684595	GRCh37/hg19 10p14-13(chr10:10175327-13529362)x3	BEND7, CAMK1D +15 more	Copy number gain	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 815317	GRCh37/hg19 10p14(chr10:12073932-12165984)x1	UPF2, DHTKD1	Copy number loss	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 686673	GRCh37/hg19 10p14-13(chr10:11435205-12314999)x1	CDC123, DHTKD1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic

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