C0162635[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207569	NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)	TPP1 (R127*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +4 more	GPathogenic
Select item 156148	NM_130839.5(UBE3A):c.*46del	SNHG14, UBE3A	Deletion (3 prime UTR variant +1 more)	Angelman syndrome	GUncertain significance
Select item 156147	NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=)	SNHG14, UBE3A	Microsatellite (no sequence alteration +1 more)	not provided	GLikely benign
Select item 155985	NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?)	SNHG14, UBE3A	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 136203	NM_130839.5(UBE3A):c.2618A>T (p.Ter873Leu)	SNHG14, UBE3A	Single nucleotide variant (stop lost +1 more)	Angelman syndrome	GPathogenic
Select item 155980	NM_130839.5(UBE3A):c.2547_2614del (p.Ser850fs)	SNHG14, UBE3A (S775fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 155977	NM_130839.5(UBE3A):c.2523_2581dup (p.Lys861delinsIleMetCysPheTyrPheArgAsnThrGlnAlaLysLysAsnLeuLysArgAspCysTer)	SNHG14, UBE3A	Duplication (nonsense +1 more)	Angelman syndrome	GPathogenic
Select item 160220	NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)	SNHG14, UBE3A (K859fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic FDA Recognized database
Select item 155993	NM_130839.5(UBE3A):c.2547_2567dup (p.Leu855_Lys856insAsnSerSerLysGluLysLeu)	SNHG14, UBE3A	Duplication (inframe_insertion +1 more)	Angelman syndrome	GPathogenic
Select item 155984	NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs)	SNHG14, UBE3A (K439fs +8 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 155983	NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer)	SNHG14, UBE3A	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 155982	NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs)	SNHG14, UBE3A (K437fs +8 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 155981	NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter)	SNHG14, UBE3A (S830* +8 more)	Single nucleotide variant (nonsense +1 more)	Angelman syndrome	GPathogenic
Select item 155992	NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)	SNHG14, UBE3A (P827L +8 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder +2 more	GPathogenic/Likely pathogenic
Select item 155979	NM_130839.5(UBE3A):c.2538del (p.Pro847fs)	SNHG14, UBE3A (P772fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 155978	NM_130839.5(UBE3A):c.2534T>A (p.Leu845Ter)	SNHG14, UBE3A (L825* +8 more)	Single nucleotide variant (nonsense +1 more)	Angelman syndrome	GPathogenic
Select item 156126	NM_130839.5(UBE3A):c.2499-31T>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance
Select item 156146	NM_130839.5(UBE3A):c.2499-34del	SNHG14, UBE3A	Deletion (intron variant)	not provided	GLikely benign
Select item 156127	NM_130839.5(UBE3A):c.2499-37dup	SNHG14, UBE3A	Duplication (intron variant)	Angelman syndrome	GUncertain significance
Select item 156128	NM_130839.5(UBE3A):c.2499-40C>T	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance
Select item 155991	NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del)	SNHG14, UBE3A (M802del +8 more)	Microsatellite (inframe_deletion +1 more)	Angelman syndrome	GPathogenic
Select item 155976	NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs)	SNHG14, UBE3A (D735fs +8 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 156679	NM_130839.5(UBE3A):c.2420C>T (p.Thr807Met)	SNHG14, UBE3A (T787M +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome +1 more	GUncertain significance
Select item 137887	NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GUncertain significance FDA Recognized database
Select item 155975	NM_130839.5(UBE3A):c.2404_2405del (p.Phe802fs)	SNHG14, UBE3A (F730fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 156125	NM_130839.5(UBE3A):c.2354+20A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance
Select item 155974	NM_130839.5(UBE3A):c.2349dup (p.Ile784fs)	SNHG14, UBE3A (I347fs +8 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 156124	NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile)	SNHG14, UBE3A (V762I +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance FDA Recognized database
Select item 155973	NM_130839.5(UBE3A):c.2307_2311dup (p.Thr771fs)	SNHG14, UBE3A (T719fs +8 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 155972	NM_130839.5(UBE3A):c.2305del (p.Glu769fs)	SNHG14, UBE3A (E332fs +8 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 155971	NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter)	SNHG14, UBE3A (E749* +8 more)	Single nucleotide variant (nonsense +1 more)	Angelman syndrome	GPathogenic
Select item 155970	NM_130839.5(UBE3A):c.2293C>T (p.Gln765Ter)	SNHG14, UBE3A (Q745* +8 more)	Single nucleotide variant (nonsense +1 more)	Angelman syndrome	GPathogenic
Select item 156123	NM_130839.5(UBE3A):c.2281-42T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance
Select item 934467	NM_130839.5(UBE3A):c.2279G>A (p.Arg760Gln)	SNHG14, UBE3A (R323Q +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 155969	NM_130839.5(UBE3A):c.2246del (p.Pro749fs)	SNHG14, UBE3A (P674fs +6 more)	Deletion (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 155968	NM_130839.5(UBE3A):c.2237T>A (p.Leu746Ter)	SNHG14, UBE3A (L726* +6 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 155967	NM_130839.5(UBE3A):c.2230_2234dup (p.Tyr745Ter)	SNHG14, UBE3A (Y328* +6 more)	Duplication (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 155966	NM_130839.5(UBE3A):c.2162_2163insTATT (p.Lys721fs)	SNHG14, UBE3A (K304fs +6 more)	Insertion (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 155990	NM_130839.5(UBE3A):c.2129T>G (p.Phe710Cys)	SNHG14, UBE3A (F690C +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GPathogenic
Select item 136202	NM_130839.5(UBE3A):c.2125-2A>C	SNHG14, UBE3A	Single nucleotide variant (splice acceptor variant +1 more)	Angelman syndrome	GPathogenic
Select item 156145	NM_130839.5(UBE3A):c.2124+19T>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GLikely benign
Select item 96260	NM_130839.5(UBE3A):c.2124+9T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GBenign FDA Recognized database
Select item 156144	NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)	SNHG14, UBE3A (K679T +5 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 156143	NM_130839.5(UBE3A):c.2091T>C (p.Gly697=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GUncertain significance
Select item 156138	NM_130839.5(UBE3A):c.2078T>G (p.Leu693Arg)	SNHG14, UBE3A (L673R +5 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 155965	NM_130839.5(UBE3A):c.2032del (p.Gln678fs)	SNHG14, UBE3A (Q678fs +5 more)	Deletion (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 155964	NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter)	SNHG14, UBE3A (Q658* +5 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome +1 more	GPathogenic
Select item 155989	NM_130839.5(UBE3A):c.2027C>T (p.Thr676Ile)	SNHG14, UBE3A (T656I +5 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GPathogenic
Select item 155962	NM_130839.5(UBE3A):c.2016_2023del (p.Met673fs)	SNHG14, UBE3A (M653fs +5 more)	Deletion (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 155963	NM_130839.5(UBE3A):c.2017dup (p.Met673fs)	SNHG14, UBE3A (M673fs +5 more)	Duplication (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 155961	NM_130839.5(UBE3A):c.1972_1973del (p.Ser658fs)	SNHG14, UBE3A (S221fs +5 more)	Microsatellite (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 155960	NM_130839.5(UBE3A):c.1874_1884del (p.Ile625fs)	SNHG14, UBE3A (I625fs +5 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 156137	NM_130839.5(UBE3A):c.1823A>C (p.Gln608Pro)	SNHG14, UBE3A (Q588P +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 156136	NM_130839.5(UBE3A):c.1822C>G (p.Gln608Glu)	SNHG14, UBE3A (Q588E +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 155988	NM_130839.5(UBE3A):c.1810G>C (p.Glu604Gln)	SNHG14, UBE3A (E584Q +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GPathogenic
Select item 155987	NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)	SNHG14, UBE3A (S582del +5 more)	Microsatellite (inframe_deletion +1 more)	Angelman syndrome	GLikely pathogenic FDA Recognized database
Select item 155959	NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter)	SNHG14, UBE3A (W577* +5 more)	Single nucleotide variant (nonsense +1 more)	Angelman syndrome	GPathogenic
Select item 137886	NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 155998	NM_130839.5(UBE3A):c.1757T>A (p.Met586Lys)	SNHG14, UBE3A (M566K +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GLikely pathogenic
Select item 136201	NM_130839.5(UBE3A):c.1754-2A>G	SNHG14, UBE3A	Single nucleotide variant (splice acceptor variant)	Angelman syndrome	GPathogenic
Select item 156135	NM_130839.5(UBE3A):c.1753+32G>A	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance
Select item 155958	NM_130839.5(UBE3A):c.1699_1702dup (p.Ser568fs)	SNHG14, UBE3A (S571fs +5 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 155986	NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg)	SNHG14, UBE3A (G545R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 156122	NM_130839.5(UBE3A):c.1686TGA[1] (p.Asp563del)	SNHG14, UBE3A (D543del +5 more)	Microsatellite (inframe_deletion +1 more)	Angelman syndrome	GUncertain significance
Select item 155957	NM_130839.5(UBE3A):c.1668dup (p.Glu557Ter)	SNHG14, UBE3A (E537* +5 more)	Duplication (nonsense +1 more)	Angelman syndrome	GPathogenic
Select item 155956	NM_130839.5(UBE3A):c.1631dup (p.Asn544fs)	SNHG14, UBE3A (N107fs +5 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 2582382	NM_130839.5(UBE3A):c.1614_1624del (p.Glu538fs)	SNHG14, UBE3A (E101fs +5 more)	Deletion (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 156134	NM_130839.5(UBE3A):c.1608+34T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance
Select item 155955	NM_130839.5(UBE3A):c.1597dup (p.Ala533fs)	SNHG14, UBE3A (A474fs +3 more)	Duplication (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 155954	NM_130839.5(UBE3A):c.1565_1566del (p.Leu522fs)	SNHG14, UBE3A (L463fs +3 more)	Deletion (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 156133	NM_130839.5(UBE3A):c.1494G>A (p.Met498Ile)	SNHG14, UBE3A (M478I +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 155997	NM_130839.5(UBE3A):c.1490G>C (p.Arg497Pro)	SNHG14, UBE3A (R477P +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GLikely pathogenic
Select item 155953	NM_130839.5(UBE3A):c.1447del (p.Ala483fs)	SNHG14, UBE3A (A424fs +3 more)	Deletion (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 136208	NM_130839.5(UBE3A):c.1425_1439del (p.Met475_Phe479del)	SNHG14, UBE3A	Deletion (inframe_deletion +2 more)	Angelman syndrome	GPathogenic
Select item 136207	NM_130839.5(UBE3A):c.1433C>T (p.Pro478Leu)	SNHG14, UBE3A (P458L +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GPathogenic
Select item 155952	NM_130839.5(UBE3A):c.1431T>A (p.Cys477Ter)	SNHG14, UBE3A (C457* +3 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 155951	NM_130839.5(UBE3A):c.1421_1422del (p.Phe474fs)	SNHG14, UBE3A (F415fs +3 more)	Deletion (frameshift variant +2 more)	Angelman syndrome	GPathogenic FDA Recognized database
Select item 155950	NM_130839.5(UBE3A):c.1415dup (p.Ser473fs)	SNHG14, UBE3A (S414fs +3 more)	Duplication (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 137885	NM_130839.5(UBE3A):c.1404A>G (p.Thr468=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 1032380	NM_130839.5(UBE3A):c.1402del (p.Thr468fs)	SNHG14, UBE3A (T409fs +3 more)	Deletion (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 155996	NM_130839.5(UBE3A):c.1364T>C (p.Leu455Pro)	SNHG14, UBE3A (L435P +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GLikely pathogenic
Select item 155949	NM_130839.5(UBE3A):c.1345G>T (p.Glu449Ter)	SNHG14, UBE3A (E429* +3 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 155948	NM_130839.5(UBE3A):c.1330G>T (p.Glu444Ter)	SNHG14, UBE3A (E424* +3 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 96256	NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 155947	NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter)	SNHG14, UBE3A (R401* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 137883	NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign FDA Recognized database
Select item 155946	NM_130839.5(UBE3A):c.1174G>T (p.Glu392Ter)	SNHG14, UBE3A (E372* +3 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 155945	NM_130839.5(UBE3A):c.1136dup (p.Asn379fs)	SNHG14, UBE3A (N359fs +3 more)	Duplication (frameshift variant +2 more)	Angelman syndrome	GPathogenic
Select item 155944	NM_130839.5(UBE3A):c.1127dup (p.Tyr376Ter)	SNHG14, UBE3A (Y317* +3 more)	Duplication (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 156132	NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)	SNHG14, UBE3A (S335T +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 155943	NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs)	SNHG14, UBE3A (T286fs +3 more)	Deletion (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 155942	NM_130839.5(UBE3A):c.1021C>T (p.Gln341Ter)	SNHG14, UBE3A (Q321* +3 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 156142	NM_130839.5(UBE3A):c.915A>G (p.Leu305=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GUncertain significance
Select item 156121	NM_130839.5(UBE3A):c.869A>C (p.Asn290Thr)	SNHG14, UBE3A (N270T +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GUncertain significance
Select item 136206	NM_130839.5(UBE3A):c.848T>G (p.Leu283Trp)	SNHG14, UBE3A (L263W +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GPathogenic
Select item 156141	NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)	SNHG14, UBE3A (N252S +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 155941	NM_130839.5(UBE3A):c.810T>A (p.Tyr270Ter)	SNHG14, UBE3A (Y250* +3 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 136198	NM_130839.5(UBE3A):c.777T>A (p.Tyr259Ter)	SNHG14, UBE3A (Y239* +3 more)	Single nucleotide variant (nonsense +2 more)	Angelman syndrome	GPathogenic
Select item 155995	NM_130839.5(UBE3A):c.770T>A (p.Leu257His)	SNHG14, UBE3A (L237H +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GLikely pathogenic
Select item 136205	NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro)	SNHG14, UBE3A (L237P +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome	GPathogenic

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