ClinVar for Gene (Select 65110) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331149	NM_023011.4(UPF3A):c.322C>T (p.Pro108Ser)	UPF3A (P108S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3331148	NM_023011.4(UPF3A):c.794A>C (p.Lys265Thr)	UPF3A (K232T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331147	NM_023011.4(UPF3A):c.581A>T (p.Asn194Ile)	UPF3A (N194I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331146	NM_023011.4(UPF3A):c.361C>T (p.Pro121Ser)	UPF3A (P121S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3331145	NM_023011.4(UPF3A):c.1408G>A (p.Glu470Lys)	UPF3A (E269K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3186786	NM_023011.4(UPF3A):c.844A>C (p.Lys282Gln)	UPF3A (K282Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186784	NM_023011.4(UPF3A):c.716G>A (p.Arg239Gln)	UPF3A (R206Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186783	NM_023011.4(UPF3A):c.582C>A (p.Asn194Lys)	UPF3A (N161K +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3186781	NM_023011.4(UPF3A):c.291C>A (p.Phe97Leu)	UPF3A (F97L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3186780	NM_023011.4(UPF3A):c.22G>A (p.Ala8Thr)	UPF3A (A8T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3186779	NM_023011.4(UPF3A):c.16G>A (p.Glu6Lys)	UPF3A (E6K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3186778	NM_023011.4(UPF3A):c.1387G>C (p.Glu463Gln)	UPF3A (E262Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186777	NM_023011.4(UPF3A):c.1307G>A (p.Arg436Gln)	UPF3A (R235Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186776	NM_023011.4(UPF3A):c.1244G>A (p.Gly415Glu)	UPF3A (G210E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186775	NM_023011.4(UPF3A):c.1180C>G (p.Gln394Glu)	UPF3A (Q394E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186774	NM_023011.4(UPF3A):c.1174C>T (p.Pro392Ser)	UPF3A (P359S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186772	NM_023011.4(UPF3A):c.1129C>T (p.Arg377Trp)	UPF3A (R344W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186771	NM_023011.4(UPF3A):c.1120G>A (p.Glu374Lys)	UPF3A (E173K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	ADPRHL1, ATP11A +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2644018	NM_023011.4(UPF3A):c.208-5C>T	UPF3A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2603595	NM_023011.4(UPF3A):c.401A>T (p.Tyr134Phe)	UPF3A (Y134F)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2596761	NM_023011.4(UPF3A):c.377T>G (p.Leu126Arg)	UPF3A (L126R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2552770	NM_023011.4(UPF3A):c.370A>G (p.Ile124Val)	UPF3A (I124V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2552062	NM_023011.4(UPF3A):c.761A>G (p.Lys254Arg)	UPF3A (K221R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549080	NM_023011.4(UPF3A):c.1045G>A (p.Glu349Lys)	UPF3A (E144K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545656	NM_023011.4(UPF3A):c.409C>T (p.Leu137Phe)	UPF3A (L137F)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2531791	NM_023011.4(UPF3A):c.1036A>G (p.Arg346Gly)	UPF3A (R346G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526025	NM_023011.4(UPF3A):c.43G>A (p.Val15Ile)	UPF3A (V15I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2522518	NM_023011.4(UPF3A):c.294G>C (p.Glu98Asp)	UPF3A (E98D)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2469079	NM_023011.4(UPF3A):c.1299C>G (p.Asn433Lys)	UPF3A (N228K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465563	NM_023011.4(UPF3A):c.1096G>A (p.Gly366Ser)	UPF3A (G333S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2389946	NM_023011.4(UPF3A):c.265C>T (p.Arg89Cys)	UPF3A (R89C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2385680	NM_023011.4(UPF3A):c.50C>T (p.Ala17Val)	UPF3A (A17V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2384870	NM_023011.4(UPF3A):c.189G>C (p.Lys63Asn)	UPF3A (K63N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2379060	NM_023011.4(UPF3A):c.23C>T (p.Ala8Val)	UPF3A (A8V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2359428	NM_023011.4(UPF3A):c.742C>T (p.Arg248Cys)	UPF3A (R248C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351982	NM_023011.4(UPF3A):c.143C>T (p.Ser48Leu)	UPF3A (S48L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2329975	NM_023011.4(UPF3A):c.944G>A (p.Cys315Tyr)	UPF3A (C282Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310156	NM_023011.4(UPF3A):c.68G>A (p.Arg23Lys)	UPF3A (R23K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2299005	NM_023011.4(UPF3A):c.227C>T (p.Pro76Leu)	UPF3A (P76L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2283158	NM_023011.4(UPF3A):c.1400C>G (p.Thr467Ser)	UPF3A (T467S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263173	NM_023011.4(UPF3A):c.10G>A (p.Glu4Lys)	UPF3A (E4K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2222873	NM_023011.4(UPF3A):c.401A>G (p.Tyr134Cys)	UPF3A (Y134C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2221113	NM_023011.4(UPF3A):c.1300A>G (p.Lys434Glu)	UPF3A (K434E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219849	NM_023011.4(UPF3A):c.230C>T (p.Pro77Leu)	UPF3A (P77L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2219211	NM_023011.4(UPF3A):c.967G>A (p.Ala323Thr)	UPF3A (A118T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209726	NM_023011.4(UPF3A):c.707G>A (p.Arg236Gln)	UPF3A (R236Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207982	NM_023011.4(UPF3A):c.1207G>A (p.Asp403Asn)	UPF3A (D202N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1878430	Single allele	CDC16, CFAP97D2 +23 more	Deletion	See cases	GPathogenic
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340720	GRCh37/hg19 13q34(chr13:113626234-115107733)x3	ADPRHL1, ATP4B +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1339910	GRCh37/hg19 13q34(chr13:115054475-115107733)x1	CHAMP1, UPF3A	Copy number loss	Monosomy 13q34	Gnot provided
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 984753	GRCh37/hg19 13q34(chr13:114893728-115093115)x1	CDC16, CHAMP1 +2 more	Copy number loss	CHAMP1-related syndrome	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979996	GRCh37/hg19 13q34(chr13:112069981-115107733)x3	ATP11AUN, UPF3A +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 688812	GRCh37/hg19 13q34(chr13:114861494-115064634)x3	CDC16, RASA3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687981	GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3	ADPRHL1, ANKRD10 +36 more	Copy number gain	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 686178	GRCh37/hg19 13q34(chr13:111568865-115107733)x1	ADPRHL1, ARHGEF7 +25 more	Copy number loss	not provided	GPathogenic
Select item 684943	GRCh37/hg19 13q34(chr13:114740937-115107733)x3	CDC16, CHAMP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 684505	Single allele	ABHD13, ADPRHL1 +40 more	Deletion	not provided	Gnot provided
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic

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