"Ambry Genetics"[submitter] AND "ETNK1"[gene] - ClinVar - NCBI

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

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2278766	NM_018638.4(ETNK1):c.4C>G (p.Leu2Val)	ETNK1 (L2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519007	NM_018638.5(ETNK1):c.-243A>G	ETNK1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3276586	NM_018638.5(ETNK1):c.-198T>G	ETNK1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2345421	NM_018638.5(ETNK1):c.-180C>T	ETNK1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2250455	NM_018638.5(ETNK1):c.-161C>T	ETNK1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3276583	NM_018638.5(ETNK1):c.25C>G (p.Pro9Ala)	ETNK1, LOC130007541 (P9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276585	NM_018638.5(ETNK1):c.52A>T (p.Asn18Tyr)	ETNK1, LOC130007541 (N18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562141	NM_018638.5(ETNK1):c.70C>G (p.Gln24Glu)	ETNK1, LOC130007541 (Q24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090705	NM_018638.5(ETNK1):c.80A>T (p.His27Leu)	ETNK1, LOC130007541 (H27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090706	NM_018638.5(ETNK1):c.93G>C (p.Glu31Asp)	ETNK1, LOC130007541 (E31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223418	NM_018638.5(ETNK1):c.149C>A (p.Thr50Asn)	ETNK1, LOC130007541 (T50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276584	NM_018638.5(ETNK1):c.244A>C (p.Asn82His)	ETNK1 (N82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494727	NM_018638.5(ETNK1):c.322C>G (p.Gln108Glu)	ETNK1 (Q108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090707	NM_018638.5(ETNK1):c.571A>G (p.Ile191Val)	ETNK1 (I191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599595	NM_018638.5(ETNK1):c.594G>T (p.Gln198His)	ETNK1 (Q198H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090704	NM_018638.5(ETNK1):c.819T>G (p.Asp273Glu)	ETNK1 (D273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276582	NM_018638.5(ETNK1):c.896C>T (p.Thr299Ile)	ETNK1 (T299I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495076	NM_018638.5(ETNK1):c.907G>A (p.Val303Ile)	ETNK1 (V303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance