EVPLL[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3090910	NM_001145127.2(EVPLL):c.29G>A (p.Arg10Gln)	EVPLL (R10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540693	NM_001145127.2(EVPLL):c.111G>C (p.Glu37Asp)	EVPLL (E37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221184	NM_001145127.2(EVPLL):c.130G>A (p.Glu44Lys)	EVPLL (E44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219508	NM_001145127.2(EVPLL):c.134C>T (p.Ala45Val)	EVPLL (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276704	NM_001145127.2(EVPLL):c.136G>A (p.Glu46Lys)	EVPLL (E46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382233	NM_001145127.2(EVPLL):c.172A>G (p.Lys58Glu)	EVPLL (K58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391098	NM_001145127.2(EVPLL):c.178C>T (p.Arg60Trp)	EVPLL (R60W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348708	NM_001145127.2(EVPLL):c.179G>A (p.Arg60Gln)	EVPLL (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090908	NM_001145127.2(EVPLL):c.214A>G (p.Lys72Glu)	EVPLL (K72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276705	NM_001145127.2(EVPLL):c.223G>A (p.Glu75Lys)	EVPLL (E75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234087	NM_001145127.2(EVPLL):c.228G>C (p.Gln76His)	EVPLL (Q76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375983	NM_001145127.2(EVPLL):c.230T>G (p.Leu77Arg)	EVPLL (L77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090909	NM_001145127.2(EVPLL):c.238C>T (p.Arg80Trp)	EVPLL (R80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381161	NM_001145127.2(EVPLL):c.277G>A (p.Glu93Lys)	EVPLL (E93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276710	NM_001145127.2(EVPLL):c.285G>A (p.Met95Ile)	EVPLL (M95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384061	NM_001145127.2(EVPLL):c.301C>T (p.Arg101Cys)	EVPLL (R101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507591	NM_001145127.2(EVPLL):c.317G>A (p.Arg106Gln)	EVPLL (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253713	NM_001145127.2(EVPLL):c.449C>A (p.Ala150Glu)	EVPLL (A150E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557680	NM_001145127.2(EVPLL):c.499C>A (p.Pro167Thr)	EVPLL (P167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276711	NM_001145127.2(EVPLL):c.505C>G (p.Pro169Ala)	EVPLL (P169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243932	NM_001145127.2(EVPLL):c.541G>A (p.Gly181Arg)	EVPLL (G181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540694	NM_001145127.2(EVPLL):c.653G>C (p.Gly218Ala)	EVPLL (G218A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607607	NM_001145127.2(EVPLL):c.775A>T (p.Ile259Phe)	EVPLL (I259F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276708	NM_001145127.2(EVPLL):c.849G>C (p.Gln283His)	EVPLL (Q283H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276706	NM_001145127.2(EVPLL):c.851T>C (p.Leu284Pro)	EVPLL (L284P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276707	NM_001145127.2(EVPLL):c.857A>C (p.His286Pro)	EVPLL (H286P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2975957	NM_001145127.2(EVPLL):c.876+16dup	EVPLL	Duplication (intron variant)	not provided	GBenign

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Items: 27