55621[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 149139	GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1	CACNA1A, DAND5 +58 more	Copy number loss	See cases	GPathogenic
Select item 147360	GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3	CACNA1A, IER2 +50 more	Copy number gain	See cases	GUncertain significance
Select item 146026	GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1	CACNA1A, IER2 +52 more	Copy number loss	See cases	GPathogenic
Select item 3182981	NM_001136035.4(TRMT1):c.1963G>T (p.Gly655Trp)	TRMT1 (G655W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328827	NM_001136035.4(TRMT1):c.1961C>T (p.Ala654Val)	TRMT1 (A654V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 859755	NM_001136035.4(TRMT1):c.1943dup (p.Gly649fs)	TRMT1 (G388fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2372954	NM_001136035.4(TRMT1):c.1942C>G (p.Pro648Ala)	TRMT1 (P619A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318978	NM_001136035.4(TRMT1):c.1940C>T (p.Pro647Leu)	TRMT1 (P618L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505869	NM_001136035.4(TRMT1):c.1903G>A (p.Ala635Thr)	TRMT1 (A374T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389479	NM_001136035.4(TRMT1):c.1883C>T (p.Thr628Ile)	TRMT1 (T592I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2270011	NM_001136035.4(TRMT1):c.1876C>A (p.Pro626Thr)	TRMT1 (P365T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506000	NM_001136035.4(TRMT1):c.1847G>A (p.Arg616His)	TRMT1 (R355H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197689	NM_001136035.4(TRMT1):c.1843C>T (p.Gln615Ter)	TRMT1 (Q586* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1706460	NM_001136035.4(TRMT1):c.1834-7C>T	TRMT1	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 68	GPathogenic
Select item 1029139	NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=)	TRMT1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder, autosomal recessive 68	GUncertain significance
Select item 3025195	NM_001136035.4(TRMT1):c.1799G>A (p.Arg600Gln)	TRMT1 (R339Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2346125	NM_001136035.4(TRMT1):c.1789C>T (p.Arg597Trp)	TRMT1 (R568W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1306952	NM_001136035.4(TRMT1):c.1784C>G (p.Ala595Gly)	TRMT1 (A334G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721549	NM_001136035.4(TRMT1):c.1778A>G (p.Asp593Gly)	TRMT1 (D593G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2273657	NM_001136035.4(TRMT1):c.1772C>T (p.Pro591Leu)	TRMT1 (P562L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212304	NM_001136035.4(TRMT1):c.1739G>A (p.Arg580His)	TRMT1 (R551H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394130	NM_001136035.4(TRMT1):c.1649G>A (p.Arg550His)	TRMT1 (R521H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063891	NM_001136035.4(TRMT1):c.1639G>T (p.Gly547Ter)	TRMT1 (G286* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 68	GPathogenic
Select item 3042761	NM_001136035.4(TRMT1):c.1630C>A (p.Arg544=)	TRMT1	Single nucleotide variant (synonymous variant)	TRMT1-related disorder	GLikely benign
Select item 3024215	NM_001136035.4(TRMT1):c.1630C>T (p.Arg544Ter)	TRMT1 (R283* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 68	GPathogenic
Select item 2232647	NM_001136035.4(TRMT1):c.1624A>G (p.Ser542Gly)	TRMT1 (S542G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619390	NM_001136035.4(TRMT1):c.1564A>G (p.Ile522Val)	TRMT1 (I261V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781879	NM_001136035.4(TRMT1):c.1554A>G (p.Pro518=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 997949	NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter)	TRMT1 (R251* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 68	GLikely pathogenic
Select item 2611551	NM_001136035.4(TRMT1):c.1529G>A (p.Arg510Gln)	TRMT1 (R249Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182979	NM_001136035.4(TRMT1):c.1528C>T (p.Arg510Trp)	TRMT1 (R249W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736097	NM_001136035.4(TRMT1):c.1515A>T (p.Glu505Asp)	TRMT1 (E244D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 782623	NM_001136035.4(TRMT1):c.1509G>A (p.Glu503=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 617603	NM_001136035.4(TRMT1):c.1506+1G>T	TRMT1	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, autosomal recessive 68	GPathogenic
Select item 3182978	NM_001136035.4(TRMT1):c.1498C>T (p.Arg500Cys)	TRMT1 (R471C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182977	NM_001136035.4(TRMT1):c.1496T>C (p.Met499Thr)	TRMT1 (M238T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339204	NM_001136035.4(TRMT1):c.1487G>A (p.Trp496Ter)	TRMT1 (W235* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 68	GLikely pathogenic
Select item 2626914	NM_001136035.4(TRMT1):c.1485C>G (p.Leu495=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 985150	NM_001136035.4(TRMT1):c.1430C>T (p.Ser477Leu)	TRMT1 (S216L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182976	NM_001136035.4(TRMT1):c.1423C>T (p.Arg475Trp)	TRMT1 (R214W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714024	NM_001136035.4(TRMT1):c.1404C>T (p.Ala468=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233679	NM_001136035.4(TRMT1):c.1397G>A (p.Arg466Gln)	TRMT1 (R205Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441950	NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)	TRMT1 (L201P +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 68	GUncertain significance
Select item 728136	NM_001136035.4(TRMT1):c.1353G>C (p.Leu451=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2567954	NM_001136035.4(TRMT1):c.1345G>A (p.Asp449Asn)	TRMT1 (D413N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047428	NM_001136035.4(TRMT1):c.1338C>T (p.Tyr446=)	TRMT1	Single nucleotide variant (synonymous variant)	TRMT1-related disorder	GLikely benign
Select item 617604	NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs)	TRMT1 (Y409fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal recessive 68	GPathogenic
Select item 773350	NM_001136035.4(TRMT1):c.1312-4G>A	TRMT1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1800970	NM_001136035.4(TRMT1):c.1279C>T (p.Arg427Trp)	TRMT1 (R166W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649366	NM_001136035.4(TRMT1):c.1275G>A (p.Ser425=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2283732	NM_001136035.4(TRMT1):c.1274C>T (p.Ser425Leu)	TRMT1 (S425L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649367	NM_001136035.4(TRMT1):c.1257C>T (p.Pro419=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229694	NM_001136035.4(TRMT1):c.1254C>A (p.Asn418Lys)	TRMT1 (N389K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182973	NM_001136035.4(TRMT1):c.1243G>A (p.Val415Met)	TRMT1 (V154M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279810	NM_001136035.4(TRMT1):c.1228C>T (p.Arg410Cys)	TRMT1 (R410C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3234225	NM_001136035.4(TRMT1):c.1227C>T (p.Gly409=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610437	NM_001136035.4(TRMT1):c.1222G>A (p.Val408Met)	TRMT1 (V147M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277768	NM_001136035.4(TRMT1):c.1202_1204dup (p.Pro401_Ile402insThr)	TRMT1	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 729208	NM_001136035.4(TRMT1):c.1177-8G>A	TRMT1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2215850	NM_001136035.4(TRMT1):c.1169G>A (p.Arg390Gln)	TRMT1 (R129Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804413	NM_001136035.4(TRMT1):c.1168C>T (p.Arg390Ter)	TRMT1 (R129* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2582353	NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)	TRMT1 (C126fs +3 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder, autosomal recessive 68	GLikely pathogenic
Select item 2394095	NM_001136035.4(TRMT1):c.1147G>A (p.Glu383Lys)	TRMT1 (E122K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662956	NM_001136035.4(TRMT1):c.1137del (p.Pro379_Val380insTer)	TRMT1	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2621730	NM_001136035.4(TRMT1):c.1118C>T (p.Ser373Phe)	TRMT1 (S344F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277109	NM_001136035.4(TRMT1):c.1110dup (p.Lys371fs)	TRMT1 (K110fs +3 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 444448	NM_001136035.4(TRMT1):c.1107-2A>G	TRMT1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2429263	NM_001136035.4(TRMT1):c.1107-13C>T	TRMT1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1342275	NM_001136035.4(TRMT1):c.1106+26G>C	TRMT1	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 68	GBenign
Select item 3182972	NM_001136035.4(TRMT1):c.1105C>T (p.Arg369Trp)	TRMT1 (R108W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551061	NM_001136035.4(TRMT1):c.1105C>G (p.Arg369Gly)	TRMT1 (R369G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2649368	NM_001136035.4(TRMT1):c.1101C>T (p.Ser367=)	TRMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2228110	NM_001136035.4(TRMT1):c.1097C>T (p.Pro366Leu)	TRMT1 (P330L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 779285	NM_001136035.4(TRMT1):c.1086G>A (p.Ala362=)	TRMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1029138	NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser)	TRMT1 (G99S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2374198	NM_001136035.4(TRMT1):c.1054G>A (p.Gly352Arg)	TRMT1 (G352R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3025426	NM_001136035.4(TRMT1):c.1053C>T (p.Cys351=)	TRMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2231464	NM_001136035.4(TRMT1):c.1051T>C (p.Cys351Arg)	TRMT1 (C351R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412904	NM_001136035.4(TRMT1):c.1042T>C (p.Cys348Arg)	TRMT1 (C312R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 730625	NM_001136035.4(TRMT1):c.1032G>C (p.Leu344=)	TRMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2369387	NM_001136035.4(TRMT1):c.1028C>T (p.Ala343Val)	TRMT1 (A307V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230082	NM_001136035.4(TRMT1):c.1020-5C>A	TRMT1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1029137	NM_001136035.4(TRMT1):c.1019+9G>C	TRMT1	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 68	GUncertain significance
Select item 191099	NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys)	TRMT1 (R323C +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 68 +1 more	GLikely pathogenic
Select item 2204292	NM_001136035.4(TRMT1):c.931G>T (p.Val311Leu)	TRMT1 (V50L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390899	NM_001136035.4(TRMT1):c.928G>A (p.Val310Met)	TRMT1 (V274M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046777	NM_001136035.4(TRMT1):c.927C>T (p.Phe309=)	TRMT1	Single nucleotide variant (synonymous variant)	TRMT1-related disorder	GLikely benign
Select item 2568786	NM_001136035.4(TRMT1):c.911A>G (p.Asn304Ser)	TRMT1 (N304S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391859	NM_001136035.4(TRMT1):c.904C>T (p.Arg302Cys)	TRMT1 (R302C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695522	NM_001136035.4(TRMT1):c.884dup (p.Leu296fs)	TRMT1 (L260fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic

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