"Ambry Genetics"[submitter] AND "SNHG14"[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315439	NM_003097.6(SNRPN):c.-380C>T	SNHG14, SNRPN +1 more (H9Y)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified +1 more	GUncertain significance
Select item 3167118	NM_001394334.1(SNURF):c.52G>A (p.Val18Ile)	SNHG14, SNRPN +1 more (V18I)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2396609	NM_001394334.1(SNURF):c.129G>C (p.Arg43Ser)	SNHG14, SNRPN +1 more (R43S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2215018	NM_001394334.1(SNURF):c.130C>T (p.Arg44Cys)	SNHG14, SNRPN +1 more (R44C)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 315443	NM_003097.6(SNRPN):c.-274G>A	SNHG14, SNRPN +1 more (R44H)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified +1 more	GUncertain significance
Select item 2249559	NM_001394334.1(SNURF):c.143A>G (p.Gln48Arg)	SNHG14, SNRPN +1 more (Q48R)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3167117	NM_001394334.1(SNURF):c.154G>A (p.Val52Met)	SNHG14, SNRPN +1 more (V52M)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2300646	NM_001394334.1(SNURF):c.209G>A (p.Gly70Asp)	SNHG14, SNRPN +1 more (G70D)	Single nucleotide variant (5 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3321208	NM_003097.6(SNRPN):c.283G>A (p.Val95Ile)	SNHG14, SNRPN +1 more (V87I +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2308312	NM_003097.6(SNRPN):c.316G>A (p.Val106Ile)	SNHG14, SNRPN +1 more (V98I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3167060	NM_003097.6(SNRPN):c.607A>G (p.Ile203Val)	SNHG14, SNRPN +1 more (I203V +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2485142	NM_003097.6(SNRPN):c.698C>A (p.Pro233Gln)	SNHG14, SNRPN +1 more (P233Q +3 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 96262	NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 589778	NM_130839.5(UBE3A):c.2598C>T (p.Ala866=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
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 155983	NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer)	SNHG14, UBE3A	Duplication (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2248980	NM_130839.5(UBE3A):c.2555A>G (p.Lys852Arg)	SNHG14, UBE3A (K415R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 155992	NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)	SNHG14, UBE3A (P827L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2618221	NM_130839.5(UBE3A):c.2527G>A (p.Val843Met)	SNHG14, UBE3A (V406M +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1791550	NM_130839.5(UBE3A):c.2516C>T (p.Thr839Ile)	SNHG14, UBE3A (T764I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589422	NM_130839.5(UBE3A):c.2461_2470del (p.Leu820_Lys821insTer)	SNHG14, UBE3A	Deletion (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 985850	NM_130839.5(UBE3A):c.2446G>C (p.Gly816Arg)	SNHG14, UBE3A (G379R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588265	NM_130839.5(UBE3A):c.2430C>T (p.Asp810=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 418562	NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)	SNHG14, UBE3A (T787A +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance FDA Recognized database
Select item 520736	NM_130839.5(UBE3A):c.2403CTT[1] (p.Phe802del)	SNHG14, UBE3A (F782del +8 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GPathogenic
Select item 389276	NM_130839.5(UBE3A):c.2370C>T (p.Ile790=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome +2 more	GLikely benign
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 588417	NM_130839.5(UBE3A):c.2322C>T (p.Asp774=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1364280	NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val)	SNHG14, UBE3A (F727V +6 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome +2 more	GUncertain significance
Select item 1786021	NM_130839.5(UBE3A):c.2169A>G (p.Val723=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome +1 more	GLikely benign
Select item 1782735	NM_130839.5(UBE3A):c.1983T>C (p.Asp661=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 521447	NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg)	SNHG14, UBE3A (G629R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1369495	NM_130839.5(UBE3A):c.1937G>A (p.Arg646His)	SNHG14, UBE3A (R587H +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome +2 more	GUncertain significance
Select item 160215	NM_130839.5(UBE3A):c.1881T>C (p.Asp627=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GLikely benign FDA Recognized database
Select item 218320	NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs)	SNHG14, UBE3A (C187fs +5 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 160214	NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser)	SNHG14, UBE3A (N602S +5 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance FDA Recognized database
Select item 521487	NM_130839.5(UBE3A):c.1782del (p.Lys594fs)	SNHG14, UBE3A (K535fs +5 more)	Deletion (frameshift variant +1 more)	Angelman syndrome +1 more	GPathogenic/Likely pathogenic
Select item 96258	NM_130839.5(UBE3A):c.1773A>G (p.Glu591=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign
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 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 872112	NM_130839.5(UBE3A):c.1609-8A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GUncertain significance FDA Recognized database
Select item 421257	NM_130839.5(UBE3A):c.1577G>A (p.Arg526His)	SNHG14, UBE3A (R506H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely pathogenic
Select item 589644	NM_130839.5(UBE3A):c.1456A>G (p.Lys486Glu)	SNHG14, UBE3A (K466E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely pathogenic
Select item 218319	NM_130839.5(UBE3A):c.1423A>G (p.Met475Val)	SNHG14, UBE3A (M455V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 208713	NM_130839.5(UBE3A):c.1314_1402del (p.Lys438fs)	SNHG14, UBE3A (K379fs +3 more)	Deletion (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 196572	NM_130839.5(UBE3A):c.1338T>C (p.Phe446=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 1763491	NM_130839.5(UBE3A):c.1322T>G (p.Ile441Ser)	SNHG14, UBE3A (I382S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1762235	NM_130839.5(UBE3A):c.1318_1321delinsATAAAC (p.Leu440fs)	SNHG14, UBE3A (L443fs +3 more)	Indel (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 590138	NM_130839.5(UBE3A):c.1271C>G (p.Pro424Arg)	SNHG14, UBE3A (P404R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 520740	NM_130839.5(UBE3A):c.1230G>C (p.Leu410Phe)	SNHG14, UBE3A (L390F +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 588822	NM_130839.5(UBE3A):c.1224A>C (p.Glu408Asp)	SNHG14, UBE3A (E388D +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1388904	NM_130839.5(UBE3A):c.1206C>T (p.Ser402=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 137884	NM_130839.5(UBE3A):c.1185A>G (p.Glu395=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome +3 more	GBenign
Select item 423704	NM_130839.5(UBE3A):c.1138G>A (p.Val380Ile)	SNHG14, UBE3A (V360I +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome +2 more	GUncertain significance
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 196571	NM_130839.5(UBE3A):c.1032T>C (p.Ile344=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign FDA Recognized database
Select item 2752866	NM_130839.5(UBE3A):c.1001G>A (p.Arg334Gln)	SNHG14, UBE3A (R275Q +3 more)	Single nucleotide variant (missense variant +2 more)	Angelman syndrome +1 more	GUncertain significance
Select item 2307586	NM_130839.5(UBE3A):c.977C>G (p.Ser326Cys)	SNHG14, UBE3A (S267C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 807191	NM_130839.5(UBE3A):c.927G>A (p.Ala309=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome +2 more	GBenign/Likely benign
Select item 1762691	NM_130839.5(UBE3A):c.886C>G (p.Pro296Ala)	SNHG14, UBE3A (P276A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 1036134	NM_130839.5(UBE3A):c.790G>A (p.Val264Met)	SNHG14, UBE3A (V244M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 499413	NM_130839.5(UBE3A):c.789C>T (p.Asn263=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign FDA Recognized database
Select item 137882	NM_130839.5(UBE3A):c.618A>T (p.Ala206=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 96265	NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr)	SNHG14, UBE3A (A178T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 650098	NM_130839.5(UBE3A):c.589G>T (p.Ala197Ser)	SNHG14, UBE3A (A138S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 96264	NM_130839.5(UBE3A):c.477A>T (p.Ala159=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 589830	NM_130839.5(UBE3A):c.406T>C (p.Leu136=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome +1 more	GLikely benign
Select item 96263	NM_130839.5(UBE3A):c.373T>C (p.Leu125=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 1676853	NM_130839.5(UBE3A):c.356T>G (p.Phe119Cys)	SNHG14, UBE3A (F119C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 845079	NM_130839.5(UBE3A):c.343G>A (p.Ala115Thr)	SNHG14, UBE3A (A118T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 511245	NM_130839.5(UBE3A):c.342C>A (p.Gly114=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 3330592	NM_130839.5(UBE3A):c.333C>G (p.Asn111Lys)	SNHG14, UBE3A (N91K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1432502	NM_130839.5(UBE3A):c.296G>A (p.Gly99Asp)	SNHG14, UBE3A (G40D +3 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 521156	NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser)	SNHG14, UBE3A (Y73S +3 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome +1 more	GUncertain significance
Select item 2614339	NM_130839.5(UBE3A):c.237_238del (p.Leu79_Cys80insTer)	SNHG14, UBE3A	Microsatellite (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 3330593	NM_130839.5(UBE3A):c.224T>G (p.Ile75Ser)	SNHG14, UBE3A (I78S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588140	NM_130839.5(UBE3A):c.222G>A (p.Lys74=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome +1 more	GLikely benign
Select item 156677	NM_130839.5(UBE3A):c.199A>G (p.Ile67Val)	SNHG14, UBE3A (I47V +3 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance FDA Recognized database
Select item 520593	NM_130839.5(UBE3A):c.151_153del (p.Cys51del)	SNHG14, UBE3A (C31del +2 more)	Deletion (inframe_deletion +2 more)	Inborn genetic diseases	GUncertain significance
Select item 521714	NM_130839.5(UBE3A):c.130G>A (p.Glu44Lys)	SNHG14, UBE3A (E24K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2355672	NM_130839.5(UBE3A):c.43G>A (p.Asp15Asn)	SNHG14, UBE3A (D15N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2228102	NM_130839.5(UBE3A):c.4G>T (p.Ala2Ser)	SNHG14, UBE3A (A2S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 87