Related gene-specific medical variations for Gene (Select 79918) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 2191274	NM_016284.5(CNOT1):c.7068C>T (p.Val2356=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 2104185	NM_016284.5(CNOT1):c.6785-8del	CNOT1, SETD6	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 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 1974209	NM_016284.5(CNOT1):c.7089G>A (p.Gln2363=)	CNOT1, SETD6	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1973114	NM_016284.5(CNOT1):c.7047C>T (p.Ile2349=)	CNOT1, SETD6	Single nucleotide variant (non-coding transcript 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 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 1569231	NM_016284.5(CNOT1):c.6849C>T (p.Tyr2283=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
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 1277952	NM_016284.5(CNOT1):c.6917+55dup	CNOT1, SETD6	Duplication (3 prime UTR variant +1 more)	not provided	GBenign

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Links from Gene

Items: 27