23020[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 144357	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3	LOC129934373, LOC129934374 +126 more	Copy number gain	See cases	GUncertain significance
Select item 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 144712	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1	LOC129934312, LOC129934313 +119 more	Copy number loss	See cases	GPathogenic
Select item 57543	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1	ADRA2B, ANKRD23 +126 more	Copy number loss	See cases	GPathogenic
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	ADRA2B, ANKRD23 +123 more	Copy number loss	See cases	GPathogenic
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
Select item 57434	GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1	ADRA2B, ANKRD23 +121 more	Copy number loss	See cases	GPathogenic
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	LOC129934371, LOC129934372 +121 more	Copy number gain	See cases	GUncertain significance
Select item 337515	NM_014014.5(SNRNP200):c.497_498dup	SNRNP200	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Dominant	GLikely benign
Select item 337516	NM_014014.5(SNRNP200):c.*337G>A	SNRNP200	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 337517	NM_014014.5(SNRNP200):c.*333G>A	SNRNP200	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 337518	NM_014014.5(SNRNP200):c.*331G>C	SNRNP200	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 897824	NM_014014.5(SNRNP200):c.*287C>G	SNRNP200	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 337519	NM_014014.5(SNRNP200):c.*257C>G	SNRNP200	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 337520	NM_014014.5(SNRNP200):c.*209T>C	SNRNP200	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 337521	NM_014014.5(SNRNP200):c.*101A>G	SNRNP200	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 898978	NM_014014.5(SNRNP200):c.*100C>T	SNRNP200	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 337522	NM_014014.5(SNRNP200):c.*61T>C	SNRNP200	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 898979	NM_014014.5(SNRNP200):c.*37A>G	SNRNP200	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 1408911	NM_014014.5(SNRNP200):c.6410G>C (p.Ter2137Ser)	SNRNP200	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1090245	NM_014014.5(SNRNP200):c.6408T>C (p.Asp2136=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073385	NM_014014.5(SNRNP200):c.6397A>G (p.Ser2133Gly)	SNRNP200 (S2133G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052596	NM_014014.5(SNRNP200):c.6389A>G (p.Glu2130Gly)	SNRNP200 (E2130G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923819	NM_014014.5(SNRNP200):c.6387T>C (p.Ala2129=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610173	NM_014014.5(SNRNP200):c.6384A>G (p.Glu2128=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 337523	NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1536570	NM_014014.5(SNRNP200):c.6333C>T (p.Asp2111=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2297701	NM_014014.5(SNRNP200):c.6314C>T (p.Thr2105Ile)	SNRNP200 (T2105I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756057	NM_014014.5(SNRNP200):c.6309C>T (p.Asn2103=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 978975	NM_014014.5(SNRNP200):c.6308A>G (p.Asn2103Ser)	SNRNP200 (N2103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1035929	NM_014014.5(SNRNP200):c.6295A>G (p.Thr2099Ala)	SNRNP200 (T2099A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908503	NM_014014.5(SNRNP200):c.6292G>A (p.Ala2098Thr)	SNRNP200 (A2098T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337524	NM_014014.5(SNRNP200):c.6291A>G (p.Pro2097=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 2807778	NM_014014.5(SNRNP200):c.6274T>C (p.Leu2092=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1147683	NM_014014.5(SNRNP200):c.6270G>A (p.Val2090=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655494	NM_014014.5(SNRNP200):c.6268-5del	SNRNP200	Deletion (intron variant)	not provided	GLikely benign
Select item 2868806	NM_014014.5(SNRNP200):c.6268-8C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1125844	NM_014014.5(SNRNP200):c.6268-14C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1143983	NM_014014.5(SNRNP200):c.6267+7G>A	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1057425	NM_014014.5(SNRNP200):c.6267+5G>A	SNRNP200	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1946169	NM_014014.5(SNRNP200):c.6240G>A (p.Lys2080=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946170	NM_014014.5(SNRNP200):c.6237C>T (p.Ile2079=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108807	NM_014014.5(SNRNP200):c.6219C>T (p.Ser2073=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028849	NM_014014.5(SNRNP200):c.6216G>A (p.Lys2072=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 337525	NM_014014.5(SNRNP200):c.6203T>A (p.Ile2068Asn)	SNRNP200 (I2068N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1311196	NM_014014.5(SNRNP200):c.6178C>T (p.Arg2060Cys)	SNRNP200 (R2060C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713993	NM_014014.5(SNRNP200):c.6175-2A>G	SNRNP200	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1484032	NM_014014.5(SNRNP200):c.6174+19C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118411	NM_014014.5(SNRNP200):c.6174+13A>G	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895869	NM_014014.5(SNRNP200):c.6174+7C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1007923	NM_014014.5(SNRNP200):c.6174+5G>A	SNRNP200	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 337526	NM_014014.5(SNRNP200):c.6174+4C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1617445	NM_014014.5(SNRNP200):c.6171G>A (p.Pro2057=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965995	NM_014014.5(SNRNP200):c.6170C>T (p.Pro2057Leu)	SNRNP200 (P2057L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992180	NM_014014.5(SNRNP200):c.6168C>T (p.Phe2056=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622996	NM_014014.5(SNRNP200):c.6159G>A (p.Ala2053=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 861609	NM_014014.5(SNRNP200):c.6151G>T (p.Val2051Phe)	SNRNP200 (V2051F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155188	NM_014014.5(SNRNP200):c.6150T>A (p.Pro2050=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634645	NM_014014.5(SNRNP200):c.6108G>T (p.Val2036=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710514	NM_014014.5(SNRNP200):c.6104T>C (p.Val2035Ala)	SNRNP200 (V2035A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397341	NM_014014.5(SNRNP200):c.6097G>A (p.Gly2033Arg)	SNRNP200 (G2033R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009198	NM_014014.5(SNRNP200):c.6097G>C (p.Gly2033Arg)	SNRNP200 (G2033R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960127	NM_014014.5(SNRNP200):c.6096C>T (p.Gly2032=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 898980	NM_014014.5(SNRNP200):c.6093-6C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1384581	NM_014014.5(SNRNP200):c.6093-7C>G	SNRNP200	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 497935	NM_014014.5(SNRNP200):c.6093-7C>A	SNRNP200	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1558658	NM_014014.5(SNRNP200):c.6093-8C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955413	NM_014014.5(SNRNP200):c.6093-12C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070843	NM_014014.5(SNRNP200):c.6093-15C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942725	NM_014014.5(SNRNP200):c.6093-16T>C	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802000	NM_014014.5(SNRNP200):c.6093-19C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651630	NM_014014.5(SNRNP200):c.6093-20C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920018	NM_014014.5(SNRNP200):c.6092+14G>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 964109	NM_014014.5(SNRNP200):c.6092+5G>C	SNRNP200	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 894847	NM_014014.5(SNRNP200):c.6092+3G>A	SNRNP200	Single nucleotide variant (intron variant)	Retinitis pigmentosa	GUncertain significance
Select item 935525	NM_014014.5(SNRNP200):c.6088C>T (p.Arg2030Cys)	SNRNP200 (R2030C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593843	NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly)	SNRNP200 (S2028G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2126836	NM_014014.5(SNRNP200):c.6075T>A (p.Asp2025Glu)	SNRNP200 (D2025E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393527	NM_014014.5(SNRNP200):c.6070G>A (p.Val2024Ile)	SNRNP200 (V2024I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1654752	NM_014014.5(SNRNP200):c.6063T>C (p.Tyr2021=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931034	NM_014014.5(SNRNP200):c.6051C>T (p.Ile2017=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 894848	NM_014014.5(SNRNP200):c.6037C>T (p.Arg2013Cys)	SNRNP200 (R2013C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2128675	NM_014014.5(SNRNP200):c.6026G>A (p.Arg2009His)	SNRNP200 (R2009H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337527	NM_014014.5(SNRNP200):c.6025C>T (p.Arg2009Cys)	SNRNP200 (R2009C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 2308223	NM_014014.5(SNRNP200):c.5984C>T (p.Ala1995Val)	SNRNP200 (A1995V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 337528	NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr)	SNRNP200 (A1995T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1161187	NM_014014.5(SNRNP200):c.5982C>T (p.Asn1994=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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