ClinVar for Gene (Select 550631) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317819	NM_005877.6(SF3A1):c.50C>T (p.Thr17Met)	CCDC157, LOC130067209 +1 more (T17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263969	NM_001017437.5(CCDC157):c.1457T>G (p.Leu486Arg)	CCDC157, KIAA1656 (L486R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263968	NM_001017437.5(CCDC157):c.276G>C (p.Met92Ile)	CCDC157, KIAA1656 (M92I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263967	NM_001017437.5(CCDC157):c.2072G>C (p.Arg691Pro)	CCDC157, KIAA1656 (R691P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263966	NM_001017437.5(CCDC157):c.1046A>G (p.Glu349Gly)	CCDC157, KIAA1656 (E349G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263965	NM_001017437.5(CCDC157):c.1704A>G (p.Ile568Met)	CCDC157, KIAA1656 (I568M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263964	NM_001017437.5(CCDC157):c.391G>A (p.Gly131Ser)	CCDC157, KIAA1656 (G131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160797	NM_005877.6(SF3A1):c.38C>T (p.Pro13Leu)	CCDC157, LOC130067209 +1 more (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138582	NM_001017437.5(CCDC157):c.97G>A (p.Gly33Arg)	CCDC157 (G33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138580	NM_001017437.5(CCDC157):c.550T>C (p.Cys184Arg)	CCDC157, KIAA1656 (C184R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138579	NM_001017437.5(CCDC157):c.472G>A (p.Glu158Lys)	CCDC157, KIAA1656 (E158K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138577	NM_001017437.5(CCDC157):c.1849G>A (p.Gly617Ser)	CCDC157, KIAA1656 (G617S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138576	NM_001017437.5(CCDC157):c.1801C>T (p.Arg601Trp)	CCDC157, KIAA1656 (R601W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138574	NM_001017437.5(CCDC157):c.1469G>A (p.Arg490Gln)	CCDC157, KIAA1656 (R490Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138573	NM_001017437.5(CCDC157):c.1373T>G (p.Leu458Arg)	CCDC157, KIAA1656 (L458R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138572	NM_001017437.5(CCDC157):c.1343A>G (p.Gln448Arg)	CCDC157, KIAA1656 (Q448R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138571	NM_001017437.5(CCDC157):c.1160G>A (p.Arg387His)	CCDC157, KIAA1656 (R387H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138570	NM_001017437.5(CCDC157):c.1154G>C (p.Gly385Ala)	CCDC157, KIAA1656 (G385A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3138569	NM_001017437.5(CCDC157):c.106C>T (p.Arg36Cys)	CCDC157 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653057	NM_001017437.5(CCDC157):c.804G>A (p.Pro268=)	CCDC157, KIAA1656	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618239	NM_001017437.5(CCDC157):c.365G>A (p.Arg122His)	CCDC157, KIAA1656 (R122H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610337	NM_001017437.5(CCDC157):c.832G>A (p.Glu278Lys)	CCDC157, KIAA1656 (E278K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591897	NM_001017437.5(CCDC157):c.1283C>G (p.Thr428Arg)	CCDC157, KIAA1656 (T428R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588583	NM_001017437.5(CCDC157):c.1550C>T (p.Ala517Val)	CCDC157, KIAA1656 (A517V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569946	NM_001017437.5(CCDC157):c.1772G>A (p.Arg591His)	CCDC157, KIAA1656 (R591H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556138	NM_001017437.5(CCDC157):c.199G>A (p.Glu67Lys)	CCDC157 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552206	NM_001017437.5(CCDC157):c.245A>G (p.Asp82Gly)	CCDC157 (D82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541667	NM_001017437.5(CCDC157):c.2195A>G (p.Lys732Arg)	CCDC157, KIAA1656 (K732R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540537	NM_001017437.5(CCDC157):c.1654A>G (p.Thr552Ala)	CCDC157, KIAA1656 (T552A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532877	NM_001017437.5(CCDC157):c.2240C>A (p.Pro747His)	CCDC157, KIAA1656 (P747H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528068	NM_001017437.5(CCDC157):c.1493G>C (p.Arg498Thr)	CCDC157, KIAA1656 (R498T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521668	NM_001017437.5(CCDC157):c.2095C>T (p.Arg699Trp)	CCDC157, KIAA1656 (R699W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518096	NM_001017437.5(CCDC157):c.1777C>T (p.Arg593Trp)	CCDC157, KIAA1656 (R593W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514083	NM_001017437.5(CCDC157):c.1670A>G (p.His557Arg)	CCDC157, KIAA1656 (H557R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491420	NM_001017437.5(CCDC157):c.898G>A (p.Ala300Thr)	CCDC157, KIAA1656 (A300T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482855	NM_001017437.5(CCDC157):c.1784T>C (p.Leu595Pro)	CCDC157, KIAA1656 (L595P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481968	NM_001017437.5(CCDC157):c.2000G>C (p.Gly667Ala)	CCDC157, KIAA1656 (G667A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477748	NM_001017437.5(CCDC157):c.134G>T (p.Arg45Leu)	CCDC157 (R45L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2471264	NM_001017437.5(CCDC157):c.1564C>T (p.Arg522Trp)	CCDC157, KIAA1656 (R522W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463652	NM_001017437.5(CCDC157):c.134G>A (p.Arg45His)	CCDC157 (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456296	NM_001017437.5(CCDC157):c.2249G>A (p.Arg750Gln)	CCDC157, KIAA1656 (R750Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412047	NM_001017437.5(CCDC157):c.1253G>C (p.Gly418Ala)	CCDC157, KIAA1656 (G418A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410179	NM_001017437.5(CCDC157):c.191G>A (p.Gly64Asp)	CCDC157 (G64D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408405	NM_001017437.5(CCDC157):c.602C>T (p.Thr201Met)	CCDC157, KIAA1656 (T201M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408058	NM_001017437.5(CCDC157):c.387G>C (p.Arg129Ser)	CCDC157, KIAA1656 (R129S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398784	NM_001017437.5(CCDC157):c.1420G>A (p.Glu474Lys)	CCDC157, KIAA1656 (E474K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393303	NM_001017437.5(CCDC157):c.188C>T (p.Pro63Leu)	CCDC157 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386437	NM_005877.6(SF3A1):c.29C>T (p.Pro10Leu)	CCDC157, LOC130067209 +1 more (P10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380823	NM_001017437.5(CCDC157):c.853C>T (p.Arg285Cys)	CCDC157, KIAA1656 (R285C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373774	NM_001017437.5(CCDC157):c.1621C>A (p.Leu541Met)	CCDC157, KIAA1656 (L541M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371114	NM_001017437.5(CCDC157):c.1436G>A (p.Arg479Gln)	CCDC157, KIAA1656 (R479Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367630	NM_001017437.5(CCDC157):c.1283C>T (p.Thr428Met)	CCDC157, KIAA1656 (T428M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361317	NM_001017437.5(CCDC157):c.1865C>T (p.Pro622Leu)	CCDC157, KIAA1656 (P622L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358180	NM_001017437.5(CCDC157):c.1982C>T (p.Thr661Met)	CCDC157, KIAA1656 (T661M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353585	NM_001017437.5(CCDC157):c.1556C>T (p.Thr519Met)	CCDC157, KIAA1656 (T519M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344254	NM_001017437.5(CCDC157):c.452C>A (p.Ser151Tyr)	CCDC157, KIAA1656 (S151Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338423	NM_001017437.5(CCDC157):c.1394G>A (p.Arg465His)	CCDC157, KIAA1656 (R465H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326369	NM_001017437.5(CCDC157):c.2248C>T (p.Arg750Trp)	CCDC157, KIAA1656 (R750W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310433	NM_001017437.5(CCDC157):c.145G>A (p.Asp49Asn)	CCDC157 (D49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303915	NM_001017437.5(CCDC157):c.1449G>C (p.Glu483Asp)	CCDC157, KIAA1656 (E483D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294393	NM_001017437.5(CCDC157):c.2212C>G (p.Arg738Gly)	CCDC157, KIAA1656 (R738G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287652	NM_001017437.5(CCDC157):c.410C>T (p.Pro137Leu)	CCDC157, KIAA1656 (P137L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280339	NM_001017437.5(CCDC157):c.1229A>C (p.Gln410Pro)	CCDC157, KIAA1656 (Q410P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265110	NM_001017437.5(CCDC157):c.949G>A (p.Ala317Thr)	CCDC157, KIAA1656 (A317T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239061	NM_001017437.5(CCDC157):c.26C>G (p.Ala9Gly)	CCDC157 (A9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223135	NM_001017437.5(CCDC157):c.361C>T (p.Arg121Trp)	CCDC157, KIAA1656 (R121W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221713	NM_001017437.5(CCDC157):c.43C>T (p.Arg15Cys)	CCDC157 (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221515	NM_001017437.5(CCDC157):c.1873C>T (p.Arg625Trp)	CCDC157, KIAA1656 (R625W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217246	NM_001017437.5(CCDC157):c.1588C>T (p.Arg530Trp)	CCDC157, KIAA1656 (R530W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808303	GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3	CASTOR1, CCDC157 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +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 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	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
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 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 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
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 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 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 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +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 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 92