ETNPPL[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 2369036	NM_031279.4(ETNPPL):c.1495A>C (p.Thr499Pro)	ETNPPL (T441P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387229	NM_031279.4(ETNPPL):c.1485G>C (p.Lys495Asn)	ETNPPL (K489N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345874	NM_031279.4(ETNPPL):c.1402A>G (p.Arg468Gly)	ETNPPL (R428G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357471	NM_031279.4(ETNPPL):c.1382A>C (p.Glu461Ala)	ETNPPL (E403A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312037	NM_031279.4(ETNPPL):c.1154C>T (p.Ala385Val)	ETNPPL (A312V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308641	NM_031279.4(ETNPPL):c.1099A>G (p.Ile367Val)	ETNPPL (I327V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233581	NM_031279.4(ETNPPL):c.1076A>G (p.Asp359Gly)	ETNPPL (D301G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545744	NM_031279.4(ETNPPL):c.1067T>C (p.Leu356Ser)	ETNPPL (L283S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090714	NM_031279.4(ETNPPL):c.926C>T (p.Thr309Met)	ETNPPL (T236M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400080	NM_031279.4(ETNPPL):c.904T>C (p.Ser302Pro)	ETNPPL (S262P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379001	NM_031279.4(ETNPPL):c.901A>T (p.Ser301Cys)	ETNPPL (S243C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090713	NM_031279.4(ETNPPL):c.852C>G (p.His284Gln)	ETNPPL (H244Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289054	NM_031279.4(ETNPPL):c.826A>G (p.Met276Val)	ETNPPL (M236V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468505	NM_031279.4(ETNPPL):c.605A>G (p.Asn202Ser)	ETNPPL (N162S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609488	NM_031279.4(ETNPPL):c.526G>A (p.Gly176Arg)	ETNPPL (G103R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655021	NM_031279.4(ETNPPL):c.459G>A (p.Lys153=)	ETNPPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537958	NM_031279.4(ETNPPL):c.299C>G (p.Pro100Arg)	ETNPPL (P27R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307630	NM_031279.4(ETNPPL):c.299C>T (p.Pro100Leu)	ETNPPL (P42L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614424	NM_031279.4(ETNPPL):c.218A>G (p.Gln73Arg)	ETNPPL (Q15R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090712	NM_031279.4(ETNPPL):c.182A>G (p.His61Arg)	ETNPPL (H3R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526535	NM_031279.4(ETNPPL):c.34G>A (p.Gly12Arg)	ETNPPL (G12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33