ClinVar for Gene (Select 9337) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268233	NM_001301073.2(CNOT8):c.730T>C (p.Leu244=)	CNOT8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3146640	NM_001301073.2(CNOT8):c.846C>G (p.Ser282Arg)	CNOT8 (S118R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536940	NM_001301073.2(CNOT8):c.866A>T (p.Asn289Ile)	CNOT8 (N125I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476998	NM_001301073.2(CNOT8):c.211C>A (p.Leu71Ile)	CNOT8 (L71I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360145	NM_001301073.2(CNOT8):c.151A>G (p.Ile51Val)	CNOT8 (I51V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316557	NM_001301073.2(CNOT8):c.655C>G (p.Gln219Glu)	CNOT8 (Q113E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292679	NM_001301073.2(CNOT8):c.839A>G (p.Lys280Arg)	CNOT8 (K226R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262018	NM_001301073.2(CNOT8):c.854C>T (p.Ala285Val)	CNOT8 (A231V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207125	NM_001301073.2(CNOT8):c.52A>G (p.Ser18Gly)	CNOT8 (S18G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 814754	GRCh37/hg19 5q33.2(chr5:154117774-154339494)x1	FAXDC2, CNOT8 +3 more	Copy number loss	not provided	GUncertain significance
Select item 686948	GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)x1	CNOT8, FAXDC2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23