6525[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 2599209	NM_134269.3(SMTN):c.-80-252G>A	SMTN (V43I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518519	NM_134269.3(SMTN):c.-80-224C>T	SMTN (A52V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 784418	NM_134269.3(SMTN):c.-80-223G>A	SMTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2233118	NM_134269.3(SMTN):c.-80-191C>G	SMTN (P63R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166715	NM_134269.3(SMTN):c.-23C>T	SMTN (P87L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2214755	NM_134269.3(SMTN):c.-4C>A	SMTN (S93R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511013	NM_134269.3(SMTN):c.10G>A (p.Glu4Lys)	SMTN (E58K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286852	NM_134269.3(SMTN):c.28G>C (p.Asp10His)	SMTN (D64H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511901	NM_134269.3(SMTN):c.38C>T (p.Ala13Val)	SMTN (A13V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589219	NM_134269.3(SMTN):c.67G>A (p.Asp23Asn)	SMTN (D79N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339909	NM_134269.3(SMTN):c.86G>T (p.Arg29Leu)	SMTN (R29L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408175	NM_134269.3(SMTN):c.103C>T (p.Arg35Trp)	SMTN (R89W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166726	NM_134269.3(SMTN):c.104G>A (p.Arg35Gln)	SMTN (R91Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166730	NM_134269.3(SMTN):c.136G>C (p.Glu46Gln)	SMTN (E140Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386591	NM_134269.3(SMTN):c.173G>A (p.Arg58Gln)	SMTN (R58Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517443	NM_134269.3(SMTN):c.195G>C (p.Trp65Cys)	SMTN (W159C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496156	NM_134269.3(SMTN):c.211C>T (p.Arg71Trp)	SMTN (R127W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166731	NM_134269.3(SMTN):c.271G>A (p.Asp91Asn)	SMTN (D147N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369940	NM_134269.3(SMTN):c.322C>A (p.Arg108Ser)	SMTN (R162S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399151	NM_134269.3(SMTN):c.406C>T (p.Arg136Cys)	SMTN (R136C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484698	NM_134269.3(SMTN):c.466T>C (p.Cys156Arg)	SMTN (C212R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166732	NM_134269.3(SMTN):c.482G>A (p.Arg161Gln)	SMTN (R161Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2653064	NM_134269.3(SMTN):c.494A>T (p.Glu165Val)	SMTN (E165V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2518456	NM_134269.3(SMTN):c.568C>A (p.Leu190Met)	SMTN (L246M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486208	NM_134269.3(SMTN):c.634G>T (p.Ala212Ser)	SMTN (A212S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594953	NM_134269.3(SMTN):c.664G>A (p.Glu222Lys)	SMTN (E222K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 712286	NM_134269.3(SMTN):c.710C>T (p.Pro237Leu)	SMTN (P237L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2523619	NM_134269.3(SMTN):c.826C>A (p.Gln276Lys)	SMTN (Q276K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 790897	NM_134269.3(SMTN):c.926C>A (p.Ala309Asp)	SMTN (A365D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2598233	NM_134269.3(SMTN):c.992G>A (p.Arg331Gln)	SMTN (R331Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344277	NM_134269.3(SMTN):c.1115C>T (p.Thr372Ile)	SMTN (T30I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271311	NM_134269.3(SMTN):c.1117A>G (p.Thr373Ala)	SMTN (T31A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349272	NM_134269.3(SMTN):c.1138G>A (p.Gly380Ser)	SMTN (G436S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251266	NM_134269.3(SMTN):c.1139G>A (p.Gly380Asp)	SMTN (G380D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389354	NM_134269.3(SMTN):c.1150C>T (p.Arg384Trp)	SMTN (R438W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614013	NM_134269.3(SMTN):c.1151G>A (p.Arg384Gln)	SMTN (R438Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166714	NM_134269.3(SMTN):c.1239G>T (p.Glu413Asp)	SMTN (E413D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166716	NM_134269.3(SMTN):c.1255C>T (p.Arg419Trp)	SMTN (R419W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 752255	NM_134269.3(SMTN):c.1263G>A (p.Leu421=)	SMTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2280402	NM_134269.3(SMTN):c.1286G>C (p.Arg429Thr)	SMTN (R483T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166717	NM_134269.3(SMTN):c.1328C>T (p.Pro443Leu)	SMTN (P499L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166718	NM_134269.3(SMTN):c.1336G>A (p.Val446Met)	SMTN (V500M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399693	NM_134269.3(SMTN):c.1394T>C (p.Ile465Thr)	SMTN (I465T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653065	NM_134269.3(SMTN):c.1478G>A (p.Arg493Gln)	SMTN (R151Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2507923	NM_134269.3(SMTN):c.1480G>A (p.Ala494Thr)	SMTN (A548T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653066	NM_134269.3(SMTN):c.1503C>T (p.Thr501=)	SMTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 721065	NM_134269.3(SMTN):c.1532G>A (p.Arg511His)	SMTN (R511H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3166719	NM_134269.3(SMTN):c.1576C>T (p.His526Tyr)	SMTN (H580Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257400	NM_134269.3(SMTN):c.1633-1509A>T	SMTN (D602V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569006	NM_134269.3(SMTN):c.1633-1495G>A	SMTN (V553M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487777	NM_134269.3(SMTN):c.1633-1470C>T	SMTN (T615I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2617311	NM_134269.3(SMTN):c.1633-1464G>A	SMTN (R563H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249974	NM_134269.3(SMTN):c.1633-1464G>T	SMTN (R563L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166720	NM_134269.3(SMTN):c.1633-1450G>A	SMTN (G568S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2223180	NM_134269.3(SMTN):c.1660G>A (p.Ala554Thr)	SMTN (A554T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166722	NM_134269.3(SMTN):c.1672G>A (p.Glu558Lys)	SMTN (E614K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523027	NM_134269.3(SMTN):c.1724G>A (p.Arg575Gln)	SMTN (R575Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323673	NM_134269.3(SMTN):c.1778A>T (p.Asp593Val)	SMTN (D647V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381328	NM_134269.3(SMTN):c.1813C>T (p.Arg605Trp)	SMTN (R605W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518955	NM_134269.3(SMTN):c.1814G>A (p.Arg605Gln)	SMTN (R263Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248194	NM_134269.3(SMTN):c.1816A>G (p.Lys606Glu)	SMTN (K637E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473614	NM_134269.3(SMTN):c.1832C>T (p.Ala611Val)	SMTN (A642V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166723	NM_134269.3(SMTN):c.1834C>T (p.Leu612Phe)	SMTN (L643F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342532	NM_134269.3(SMTN):c.1880G>A (p.Arg627Gln)	SMTN (R285Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540073	NM_134269.3(SMTN):c.1882G>C (p.Glu628Gln)	SMTN (E286Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323275	NM_134269.3(SMTN):c.1892T>G (p.Leu631Arg)	SMTN (L685R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2653067	NM_134269.3(SMTN):c.1893G>A (p.Leu631=)	SMTN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2364524	NM_134269.3(SMTN):c.1920G>C (p.Glu640Asp)	SMTN (E734D +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570248	NM_134269.3(SMTN):c.1925G>A (p.Arg642His)	SMTN (R642H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463826	NM_134269.3(SMTN):c.1927G>A (p.Gly643Ser)	SMTN (G301S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271281	NM_134269.3(SMTN):c.2012G>T (p.Arg671Leu)	SMTN (R756L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216728	NM_134269.3(SMTN):c.2038C>T (p.Arg680Trp)	SMTN (R680W +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275099	NM_134269.3(SMTN):c.2045C>G (p.Ala682Gly)	SMTN (A682G +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487820	NM_134269.3(SMTN):c.2066C>T (p.Ser689Leu)	SMTN (S347L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607725	NM_134269.3(SMTN):c.2084C>T (p.Ser695Leu)	SMTN (S353L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368823	NM_134269.3(SMTN):c.2108T>C (p.Met703Thr)	SMTN (M627T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621622	NM_134269.3(SMTN):c.2258A>G (p.Gln753Arg)	SMTN (Q784R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263852	NM_134269.3(SMTN):c.2299A>T (p.Met767Leu)	SMTN (M767L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166725	NM_134269.3(SMTN):c.2347C>G (p.Pro783Ala)	SMTN (P707A +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316688	NM_134269.3(SMTN):c.2359G>A (p.Val787Met)	SMTN (V818M +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365848	NM_134269.3(SMTN):c.2458G>A (p.Asp820Asn)	SMTN (D478N +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361508	NM_134269.3(SMTN):c.2459A>T (p.Asp820Val)	SMTN (D876V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166727	NM_134269.3(SMTN):c.2570G>A (p.Arg857His)	SMTN (R781H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166728	NM_134269.3(SMTN):c.*21G>C	SMTN (E868D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166729	NM_134269.3(SMTN):c.*52G>A	SMTN (V879M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	KREMEN1, NEFH +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic

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