SETD6[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 59992	GRCh38/hg38 16q21(chr16:58082578-58578082)x3	CCDC113, CFAP20 +32 more	Copy number gain	See cases	GUncertain significance
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 2547977	NM_001160305.4(SETD6):c.25C>T (p.Arg9Trp)	LOC130059145, SETD6 (R9W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595946	NM_001160305.4(SETD6):c.124G>A (p.Glu42Lys)	LOC130059145, SETD6 (E42K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455194	NM_001160305.4(SETD6):c.136G>A (p.Gly46Arg)	LOC130059145, SETD6 (G46R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2466976	NM_001160305.4(SETD6):c.178C>T (p.Pro60Ser)	LOC130059145, SETD6 (P60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160687	NM_001160305.4(SETD6):c.227G>T (p.Gly76Val)	LOC130059145, SETD6 (G76V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317753	NM_001160305.4(SETD6):c.241G>C (p.Glu81Gln)	LOC130059145, SETD6 (E57Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160688	NM_001160305.4(SETD6):c.244A>G (p.Ser82Gly)	LOC130059145, SETD6 (S58G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397137	NM_001160305.4(SETD6):c.277C>T (p.Pro93Ser)	LOC130059145, SETD6 (P93S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317751	NM_001160305.4(SETD6):c.283G>C (p.Ala95Pro)	LOC130059145, SETD6 (A71P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317749	NM_001160305.4(SETD6):c.317G>A (p.Gly106Asp)	LOC130059145, SETD6 (G106D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317748	NM_001160305.4(SETD6):c.320G>A (p.Gly107Asp)	LOC130059145, SETD6 (G107D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317750	NM_001160305.4(SETD6):c.341T>A (p.Val114Asp)	SETD6 (V90D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 634453	NM_001160305.4(SETD6):c.355C>T (p.Gln119Ter)	SETD6 (Q95*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2597478	NM_001160305.4(SETD6):c.401A>G (p.Gln134Arg)	SETD6 (Q134R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543237	NM_001160305.4(SETD6):c.409G>A (p.Ala137Thr)	SETD6 (A113T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204081	NM_001160305.4(SETD6):c.425C>G (p.Pro142Arg)	SETD6 (P118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646570	NM_001160305.4(SETD6):c.481G>A (p.Glu161Lys)	LOC130059146, SETD6 (E137K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2356571	NM_001160305.4(SETD6):c.638A>G (p.Tyr213Cys)	SETD6 (Y213C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393006	NM_001160305.4(SETD6):c.640C>T (p.His214Tyr)	SETD6 (H214Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315730	NM_001160305.4(SETD6):c.649G>C (p.Val217Leu)	SETD6 (V193L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160690	NM_001160305.4(SETD6):c.670A>G (p.Ser224Gly)	SETD6 (S224G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222370	NM_001160305.4(SETD6):c.745A>G (p.Ile249Val)	SETD6 (I225V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274859	NM_001160305.4(SETD6):c.766C>T (p.His256Tyr)	SETD6 (H256Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160691	NM_001160305.4(SETD6):c.803G>A (p.Arg268Gln)	SETD6 (R268Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216318	NM_001160305.4(SETD6):c.830A>G (p.Lys277Arg)	SETD6 (K277R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537281	NM_001160305.4(SETD6):c.876A>T (p.Gln292His)	SETD6 (Q268H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339810	NM_001160305.4(SETD6):c.883C>G (p.His295Asp)	SETD6 (H295D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474511	NM_001160305.4(SETD6):c.1066A>C (p.Ile356Leu)	SETD6 (I356L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385899	NM_001160305.4(SETD6):c.1169G>A (p.Gly390Glu)	SETD6 (G366E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614011	NM_001160305.4(SETD6):c.1174G>C (p.Asp392His)	SETD6 (D392H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317129	NM_001160305.4(SETD6):c.1277C>T (p.Thr426Ile)	SETD6 (T402I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3239046	NM_001160305.4(SETD6):c.1334C>T (p.Ala445Val)	SETD6 (A421V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2614172	NM_001160305.4(SETD6):c.1354C>G (p.Gln452Glu)	SETD6 (Q452E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160685	NM_001160305.4(SETD6):c.1403T>G (p.Leu468Trp)	SETD6 (L468W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1289270	NM_016284.5(CNOT1):c.*82G>A	CNOT1, SETD6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3364592	NM_016284.5(CNOT1):c.7121G>C (p.Gly2374Ala)	CNOT1, SETD6 (G2369A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1974209	NM_016284.5(CNOT1):c.7089G>A (p.Gln2363=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2191274	NM_016284.5(CNOT1):c.7068C>T (p.Val2356=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1973114	NM_016284.5(CNOT1):c.7047C>T (p.Ile2349=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2758049	NM_016284.5(CNOT1):c.7020T>A (p.His2340Gln)	CNOT1, SETD6 (H2335Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2065312	NM_016284.5(CNOT1):c.7008G>A (p.Lys2336=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3363233	NM_016284.5(CNOT1):c.6983A>G (p.Glu2328Gly)	CNOT1, SETD6 (E2323G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2446155	NM_016284.5(CNOT1):c.6968TTA[1] (p.Ile2324del)	CNOT1, SETD6 (I2319del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2505815	NM_016284.5(CNOT1):c.6970A>C (p.Ile2324Leu)	CNOT1, SETD6 (I2319L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1703926	NM_016284.5(CNOT1):c.6965T>G (p.Leu2322Arg)	CNOT1, SETD6 (L2317R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3253254	NM_016284.5(CNOT1):c.6964C>G (p.Leu2322Val)	CNOT1, SETD6 (L2317V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2028858	NM_016284.5(CNOT1):c.6918-16T>G	CNOT1, SETD6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1277952	NM_016284.5(CNOT1):c.6917+64dup	CNOT1, SETD6	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2070562	NM_016284.5(CNOT1):c.6917+7G>A	CNOT1, SETD6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2176286	NM_016284.5(CNOT1):c.6891G>C (p.Thr2297=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1801072	NM_016284.5(CNOT1):c.6853A>G (p.Ser2285Gly)	CNOT1, SETD6 (S2280G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2040651	NM_016284.5(CNOT1):c.6852C>T (p.Phe2284=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1569231	NM_016284.5(CNOT1):c.6849C>T (p.Tyr2283=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2389226	NM_016284.5(CNOT1):c.6819G>C (p.Gln2273His)	CNOT1, SETD6 (Q2268H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3017281	NM_016284.5(CNOT1):c.6791A>C (p.Tyr2264Ser)	CNOT1, SETD6 (Y2264S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2104185	NM_016284.5(CNOT1):c.6785-8del	CNOT1, SETD6	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 980681	GRCh37/hg19 16q21(chr16:58143012-58686508)x3	CCDC113, CFAP20 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980679	GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1	CCL17, ADGRG1 +28 more	Copy number loss	not provided	GUncertain significance
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564334	GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1	ADGRG1, ADGRG3 +35 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 85