ClinVar for Gene (Select 64850) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276591	NM_031279.4(ETNPPL):c.1456T>A (p.Cys486Ser)	ETNPPL (C446S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276590	NM_031279.4(ETNPPL):c.1018G>T (p.Gly340Trp)	ETNPPL (G300W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276589	NM_031279.4(ETNPPL):c.505C>A (p.Pro169Thr)	ETNPPL (P163T +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 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 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 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	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2655021	NM_031279.4(ETNPPL):c.459G>A (p.Lys153=)	ETNPPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 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 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36