ClinVar for Gene (Select 122509) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108128	NM_206949.3(IFI27L1):c.85G>A (p.Val29Met)	IFI27L1 (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108127	NM_206949.3(IFI27L1):c.55G>A (p.Gly19Arg)	IFI27L1 (G19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108126	NM_206949.3(IFI27L1):c.46G>A (p.Ala16Thr)	IFI27L1 (A16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108125	NM_206949.3(IFI27L1):c.202G>C (p.Val68Leu)	IFI27L1 (V68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108124	NM_206949.3(IFI27L1):c.137T>C (p.Ile46Thr)	IFI27L1 (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2464728	NM_206949.3(IFI27L1):c.97G>A (p.Ala33Thr)	IFI27L1 (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428766	NM_206949.3(IFI27L1):c.61+1G>A	IFI27L1	Single nucleotide variant (splice donor variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 2393441	NM_206949.3(IFI27L1):c.41T>C (p.Val14Ala)	IFI27L1 (V14A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385167	NM_206949.3(IFI27L1):c.205G>T (p.Ala69Ser)	IFI27L1 (A69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348900	NM_206949.3(IFI27L1):c.178G>A (p.Gly60Ser)	IFI27L1 (G60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323024	NM_206949.3(IFI27L1):c.151A>G (p.Met51Val)	IFI27L1 (M51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303030	NM_206949.3(IFI27L1):c.235C>T (p.Leu79Phe)	IFI27L1 (L79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221190	NM_206949.3(IFI27L1):c.263G>T (p.Gly88Val)	IFI27L1 (G88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1526435	GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710)	ASB2, DDX24 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1526434	GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218)	PPP4R4, SERPINA1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	SERPINA1, SERPINA12 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 441640	GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3	ASB2, BTBD7 +31 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 40