79876[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 60091	GRCh38/hg38 3q22.1(chr3:132639520-132972626)x1	ACAD11, LOC129937585 +8 more	Copy number loss	See cases	GUncertain significance
Select item 166631	NM_032169.5(ACAD11):c.50A>C (p.Gln17Pro)	ACAD11, NPHP3-ACAD11 +1 more (Q17P)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2373169	NM_032169.5(ACAD11):c.46C>T (p.Pro16Ser)	ACAD11, NPHP3-ACAD11 +1 more (P16S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 1030879	NM_024818.4(UBA5):c.-823C>A	ACAD11, NPHP3-ACAD11 +1 more (E13*)	Single nucleotide variant (5 prime UTR variant +3 more)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 2211917	NM_032169.5(ACAD11):c.28G>A (p.Asp10Asn)	ACAD11, NPHP3-ACAD11 +1 more (D10N)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2672961	NM_024818.6(UBA5):c.-34C>T	NPHP3-ACAD11, UBA5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3031815	NM_024818.6(UBA5):c.-9G>A	NPHP3-ACAD11, UBA5	Single nucleotide variant (5 prime UTR variant +1 more)	UBA5-related disorder	GLikely benign
Select item 1686286	NM_024818.6(UBA5):c.1A>G (p.Met1Val)	NPHP3-ACAD11, UBA5 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 1369182	NM_024818.6(UBA5):c.4G>A (p.Ala2Thr)	NPHP3-ACAD11, UBA5 (A2T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1493441	NM_024818.6(UBA5):c.5C>T (p.Ala2Val)	NPHP3-ACAD11, UBA5 (A2V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1654626	NM_024818.6(UBA5):c.6G>A (p.Ala2=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1404240	NM_024818.6(UBA5):c.10T>C (p.Ser4Pro)	NPHP3-ACAD11, UBA5 (S4P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1631850	NM_024818.6(UBA5):c.20G>A (p.Arg7His)	NPHP3-ACAD11, UBA5 (R7H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1628906	NM_024818.6(UBA5):c.21C>T (p.Arg7=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1686287	NM_024818.6(UBA5):c.36_37del (p.Gln13fs)	NPHP3-ACAD11, UBA5 (Q13fs)	Deletion (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 1366023	NM_024818.6(UBA5):c.40G>A (p.Glu14Lys)	NPHP3-ACAD11, UBA5 (E14K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1643824	NM_024818.6(UBA5):c.63G>A (p.Gln21=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1955921	NM_024818.6(UBA5):c.76C>G (p.Gln26Glu)	NPHP3-ACAD11, UBA5 (Q26E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1952878	NM_024818.6(UBA5):c.84G>A (p.Pro28=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1971012	NM_024818.6(UBA5):c.90del (p.Ser30fs)	NPHP3-ACAD11, UBA5 (S30fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2490737	NM_024818.6(UBA5):c.91G>T (p.Gly31Cys)	NPHP3-ACAD11, UBA5 (G31C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1355573	NM_024818.6(UBA5):c.107G>A (p.Gly36Asp)	NPHP3-ACAD11, UBA5 (G36D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1896484	NM_024818.6(UBA5):c.110G>A (p.Arg37Gln)	LOC129937585, NPHP3-ACAD11 +1 more (R37Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2530995	NM_024818.6(UBA5):c.115C>T (p.Arg39Cys)	LOC129937585, NPHP3-ACAD11 +1 more (R39C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 985921	NM_024818.6(UBA5):c.129_130insGG (p.Ser44fs)	LOC129937585, NPHP3-ACAD11 +1 more (S44fs)	Insertion (5 prime UTR variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 2013138	NM_024818.6(UBA5):c.131G>C (p.Ser44Thr)	LOC129937585, NPHP3-ACAD11 +1 more (S44T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1965623	NM_024818.6(UBA5):c.135A>G (p.Ser45=)	LOC129937585, NPHP3-ACAD11 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 973257	NM_024818.6(UBA5):c.160dup (p.Ser54fs)	LOC129937585, NPHP3-ACAD11 +1 more (S54fs)	Duplication (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 2787384	NM_024818.6(UBA5):c.161+12C>A	LOC129937585, NPHP3-ACAD11 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1640890	NM_024818.6(UBA5):c.161+15C>G	LOC129937585, NPHP3-ACAD11 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1942761	NM_024818.6(UBA5):c.161+16G>C	LOC129937585, NPHP3-ACAD11 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2748415	NM_024818.6(UBA5):c.161+19C>A	LOC129937585, NPHP3-ACAD11 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1931868	NM_024818.6(UBA5):c.161+19C>T	LOC129937585, NPHP3-ACAD11 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3037559	NM_024818.6(UBA5):c.161+338T>A	NPHP3-ACAD11, UBA5	Single nucleotide variant (5 prime UTR variant +2 more)	UBA5-related disorder	GLikely benign
Select item 3037751	NM_024818.6(UBA5):c.161+358T>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	UBA5-related disorder	GLikely benign
Select item 57793	GRCh38/hg38 3q22.1(chr3:132662034-133263499)x3	LOC112903835, LOC112903836 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2789418	NM_024818.6(UBA5):c.162-18_162-17del	NPHP3-ACAD11, UBA5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2709345	NM_024818.6(UBA5):c.162-18A>G	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921977	NM_024818.6(UBA5):c.162-17T>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645756	NM_024818.6(UBA5):c.162-15T>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644144	NM_024818.6(UBA5):c.162-7T>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1701463	NM_024818.6(UBA5):c.163C>T (p.Arg55Cys)	NPHP3-ACAD11, UBA5 (R55C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 265746	NM_024818.6(UBA5):c.164G>A (p.Arg55His)	NPHP3-ACAD11, UBA5 (R55H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 265755	NM_024818.6(UBA5):c.169A>G (p.Met57Val)	NPHP3-ACAD11, UBA5 (M57V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 265748	NM_024818.6(UBA5):c.181C>T (p.Arg61Ter)	NPHP3-ACAD11, UBA5 (R61* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1664720	NM_024818.6(UBA5):c.195A>G (p.Val65=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1251993	NM_024818.6(UBA5):c.199G>T (p.Asp67Tyr)	NPHP3-ACAD11, UBA5 (D11Y +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 44	GLikely pathogenic
Select item 1088761	NM_024818.6(UBA5):c.199G>A (p.Asp67Asn)	NPHP3-ACAD11, UBA5 (D11N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2619582	NM_024818.6(UBA5):c.203A>C (p.Tyr68Ser)	NPHP3-ACAD11, UBA5 (Y12S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1325326	NM_024818.6(UBA5):c.204T>G (p.Tyr68Ter)	NPHP3-ACAD11, UBA5 (Y12* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1447224	NM_024818.6(UBA5):c.207+6A>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1625857	NM_024818.6(UBA5):c.208-17T>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1409798	NM_024818.6(UBA5):c.214C>T (p.Arg72Cys)	UBA5, NPHP3-ACAD11 (R72C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 809545	NM_024818.6(UBA5):c.215G>A (p.Arg72His)	NPHP3-ACAD11, UBA5 (R16H +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 44 +1 more	GConflicting classifications of pathogenicity
Select item 2854521	NM_024818.6(UBA5):c.219C>T (p.Thr73=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1517406	NM_024818.6(UBA5):c.220T>G (p.Phe74Val)	NPHP3-ACAD11, UBA5 (F18V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 732777	NM_024818.6(UBA5):c.225C>T (p.Ala75=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1514512	NM_024818.6(UBA5):c.226G>A (p.Val76Ile)	NPHP3-ACAD11, UBA5 (V20I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1566017	NM_024818.6(UBA5):c.237A>G (p.Val79=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1937466	NM_024818.6(UBA5):c.274C>T (p.Leu92=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2151196	NM_024818.6(UBA5):c.276G>C (p.Leu92=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1407487	NM_024818.6(UBA5):c.277A>G (p.Thr93Ala)	NPHP3-ACAD11, UBA5 (T93A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2500792	NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)	NPHP3-ACAD11, UBA5 (R38G +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 44	GLikely pathogenic
Select item 2573082	NM_024818.6(UBA5):c.290T>C (p.Ile97Thr)	UBA5, NPHP3-ACAD11 (I41T +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 44	GUncertain significance
Select item 3234903	NM_024818.6(UBA5):c.297+2T>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 44	GLikely pathogenic
Select item 2698251	NM_024818.6(UBA5):c.298-15C>A	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1562148	NM_024818.6(UBA5):c.328C>T (p.Leu110=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2109431	NM_024818.6(UBA5):c.329T>C (p.Leu110Pro)	NPHP3-ACAD11, UBA5 (L110P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093374	NM_024818.6(UBA5):c.342T>G (p.Asn114Lys)	NPHP3-ACAD11, UBA5 (N2K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082649	NM_024818.6(UBA5):c.342T>C (p.Asn114=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3075781	NM_024818.6(UBA5):c.367_368insGA (p.Ala123fs)	NPHP3-ACAD11, UBA5 (A11fs +3 more)	Insertion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1607011	NM_024818.6(UBA5):c.381A>G (p.Lys127=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741726	NM_024818.6(UBA5):c.390A>C (p.Ala130=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501581	NM_024818.6(UBA5):c.407+1G>T	NPHP3-ACAD11, UBA5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2789662	NM_024818.6(UBA5):c.407+10del	NPHP3-ACAD11, UBA5	Deletion (intron variant)	not provided	GLikely benign
Select item 3010055	NM_024818.6(UBA5):c.407+15A>T	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630986	NM_024818.6(UBA5):c.408-12T>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617432	NM_024818.6(UBA5):c.408-4T>A	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690405	NM_024818.6(UBA5):c.419C>G (p.Pro140Arg)	NPHP3-ACAD11, UBA5 (P140R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019446	NM_024818.6(UBA5):c.420T>C (p.Pro140=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901585	NM_024818.6(UBA5):c.431T>G (p.Phe144Cys)	NPHP3-ACAD11, UBA5 (F144C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759984	NM_024818.6(UBA5):c.435A>G (p.Glu145=)	UBA5, NPHP3-ACAD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2276539	NM_024818.6(UBA5):c.440A>G (p.His147Arg)	NPHP3-ACAD11, UBA5 (H35R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424842	NM_024818.6(UBA5):c.446A>G (p.Tyr149Cys)	NPHP3-ACAD11, UBA5 (Y37C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982589	NM_024818.6(UBA5):c.460G>A (p.Val154Met)	NPHP3-ACAD11, UBA5 (V154M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2755814	NM_024818.6(UBA5):c.462G>A (p.Val154=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1436251	NM_024818.6(UBA5):c.479dup (p.Met161fs)	NPHP3-ACAD11, UBA5 (M161fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1716298	NM_024818.6(UBA5):c.482T>C (p.Met161Thr)	NPHP3-ACAD11, UBA5 (M105T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629078	NM_024818.6(UBA5):c.494+18G>T	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641330	NM_024818.6(UBA5):c.495-18C>T	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007333	NM_024818.6(UBA5):c.495-15A>G	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812931	NM_024818.6(UBA5):c.495-14T>A	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655317	NM_024818.6(UBA5):c.495-14T>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	not provided	GLikely benign

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