ClinVar for Gene (Select 54541) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271204	NM_019058.4(DDIT4):c.276G>C (p.Leu92Phe)	DDIT4 (L92F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271203	NM_019058.4(DDIT4):c.143G>T (p.Ser48Ile)	DDIT4 (S48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271202	NM_019058.4(DDIT4):c.155C>T (p.Ser52Leu)	DDIT4 (S52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271201	NM_019058.4(DDIT4):c.323G>A (p.Arg108Gln)	DDIT4 (R108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080770	NM_019058.4(DDIT4):c.7A>G (p.Ser3Gly)	DDIT4, LOC130004050 (S3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080769	NM_019058.4(DDIT4):c.466A>G (p.Ser156Gly)	DDIT4 (S156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080768	NM_019058.4(DDIT4):c.413A>G (p.Glu138Gly)	DDIT4 (E138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080766	NM_019058.4(DDIT4):c.244G>C (p.Glu82Gln)	DDIT4 (E82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080765	NM_019058.4(DDIT4):c.10C>T (p.Leu4Phe)	DDIT4, LOC130004050 (L4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685381	GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1	ANAPC16, ASCC1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2618548	NM_019058.4(DDIT4):c.581G>T (p.Ser194Ile)	DDIT4 (S194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600336	NM_019058.4(DDIT4):c.76C>T (p.Pro26Ser)	DDIT4, LOC130004050 (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2560229	NM_019058.4(DDIT4):c.11T>C (p.Leu4Pro)	DDIT4, LOC130004050 (L4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516932	NM_019058.4(DDIT4):c.82C>T (p.Arg28Trp)	DDIT4, LOC130004050 (R28W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469677	NM_019058.4(DDIT4):c.694T>C (p.Cys232Arg)	DDIT4 (C232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401869	NM_019058.4(DDIT4):c.460G>A (p.Gly154Ser)	DDIT4 (G154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399785	NM_019058.4(DDIT4):c.284A>G (p.Asn95Ser)	DDIT4 (N95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284055	NM_019058.4(DDIT4):c.446T>C (p.Val149Ala)	DDIT4 (V149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240568	NM_019058.4(DDIT4):c.397C>T (p.Arg133Cys)	DDIT4 (R133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238649	NM_019058.4(DDIT4):c.477C>G (p.Ser159Arg)	DDIT4 (S159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235667	NM_019058.4(DDIT4):c.338G>T (p.Arg113Leu)	DDIT4 (R113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 35