Related gene-specific medical variations for Gene (Select 110599583) - ClinVar

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

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2654314	NM_001100121.2(ECE2):c.1986G>A (p.Glu662=)	ECE2, EEF1AKMT4-ECE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654313	NM_001100121.2(ECE2):c.1302G>A (p.Thr434=)	ECE2, EEF1AKMT4-ECE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622238	NM_001100121.2(ECE2):c.1885T>A (p.Ser629Thr)	ECE2, EEF1AKMT4-ECE2 (S600T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615127	NM_001100121.2(ECE2):c.1783G>T (p.Gly595Cys)	ECE2, EEF1AKMT4-ECE2 (G566C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613152	NM_032331.4(EEF1AKMT4):c.59A>G (p.Tyr20Cys)	ECE2, EEF1AKMT4 +1 more (Y20C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609438	NM_001100121.2(ECE2):c.1630C>T (p.Leu544Phe)	ECE2, EEF1AKMT4-ECE2 (L515F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608562	NM_001100121.2(ECE2):c.335G>A (p.Arg112Gln)	ECE2, EEF1AKMT4-ECE2 (R112Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598583	NM_032331.4(EEF1AKMT4):c.116A>G (p.Tyr39Cys)	ECE2, EEF1AKMT4 +1 more (Y39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596307	NM_001100121.2(ECE2):c.251A>G (p.Gln84Arg)	ECE2, EEF1AKMT4-ECE2 (Q130R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552592	NM_032331.4(EEF1AKMT4):c.70G>C (p.Glu24Gln)	ECE2, EEF1AKMT4 +1 more (E24Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2544664	NM_033259.3(CAMK2N2):c.104C>A (p.Ser35Tyr)	CAMK2N2, EEF1AKMT4-ECE2 (S35Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521633	NM_001100121.2(ECE2):c.2132C>T (p.Ser711Leu)	ECE2, EEF1AKMT4-ECE2 (S711L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486031	NM_032331.4(EEF1AKMT4):c.19G>A (p.Gly7Ser)	ECE2, EEF1AKMT4 +1 more (G7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472721	NM_001100121.2(ECE2):c.995C>T (p.Ser332Leu)	ECE2, EEF1AKMT4-ECE2 (S303L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466133	NM_032331.4(EEF1AKMT4):c.422G>A (p.Arg141Gln)	ECE2, EEF1AKMT4 +1 more (R141Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2459121	NM_032331.4(EEF1AKMT4):c.400G>C (p.Asp134His)	ECE2, EEF1AKMT4 +1 more (D134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400830	NM_001100121.2(ECE2):c.2002G>A (p.Gly668Arg)	ECE2, EEF1AKMT4-ECE2 (G668R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398874	NM_001100121.2(ECE2):c.1910C>T (p.Thr637Met)	EEF1AKMT4-ECE2, ECE2 (T608M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390740	NM_032331.4(EEF1AKMT4):c.35A>G (p.Glu12Gly)	EEF1AKMT4, ECE2 +1 more (E12G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386716	NM_032331.4(EEF1AKMT4):c.277G>A (p.Val93Met)	EEF1AKMT4, ECE2 +1 more (V93M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367988	NM_001100121.2(ECE2):c.1723G>A (p.Ala575Thr)	ECE2, EEF1AKMT4-ECE2 (A546T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367549	NM_001100121.2(ECE2):c.1966G>A (p.Gly656Ser)	ECE2, EEF1AKMT4-ECE2 (G702S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358421	NM_001100121.2(ECE2):c.650T>C (p.Met217Thr)	EEF1AKMT4-ECE2, ECE2 (M217T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342197	NM_001100121.2(ECE2):c.1309G>A (p.Ala437Thr)	ECE2, EEF1AKMT4-ECE2 (A408T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333296	NM_001100121.2(ECE2):c.1139C>T (p.Thr380Met)	ECE2, EEF1AKMT4-ECE2 (T380M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332059	NM_001100121.2(ECE2):c.215C>T (p.Ala72Val)	ECE2, EEF1AKMT4-ECE2 (A118V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325156	NM_001100121.2(ECE2):c.1952G>C (p.Gly651Ala)	ECE2, EEF1AKMT4-ECE2 (G651A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319245	NM_032331.4(EEF1AKMT4):c.223G>A (p.Glu75Lys)	EEF1AKMT4, ECE2 +1 more (E75K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317044	NM_001100121.2(ECE2):c.1328G>T (p.Gly443Val)	EEF1AKMT4-ECE2, ECE2 (G443V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315823	NM_001100121.2(ECE2):c.1448A>C (p.Lys483Thr)	EEF1AKMT4-ECE2, ECE2 (K454T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313074	NM_001100121.2(ECE2):c.1771C>G (p.Leu591Val)	ECE2, EEF1AKMT4-ECE2 (L709V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306822	NM_001100121.2(ECE2):c.872G>A (p.Arg291Gln)	ECE2, EEF1AKMT4-ECE2 (R409Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2305604	NM_001100121.2(ECE2):c.656T>C (p.Val219Ala)	ECE2, EEF1AKMT4-ECE2 (V190A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293913	NM_032331.4(EEF1AKMT4):c.397C>A (p.Leu133Met)	ECE2, EEF1AKMT4 +1 more (L133M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293038	NM_001100121.2(ECE2):c.1634G>A (p.Arg545His)	ECE2, EEF1AKMT4-ECE2 (R591H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290577	NM_001100121.2(ECE2):c.2197C>T (p.Arg733Cys)	EEF1AKMT4-ECE2, ECE2 (R851C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288907	NM_001100121.2(ECE2):c.1776C>G (p.Asn592Lys)	EEF1AKMT4-ECE2, ECE2 (N592K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274649	NM_001100121.2(ECE2):c.352G>A (p.Glu118Lys)	ECE2, EEF1AKMT4-ECE2 (E118K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259559	NM_001100121.2(ECE2):c.1358G>T (p.Arg453Leu)	EEF1AKMT4-ECE2, ECE2 (R424L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243712	NM_001100121.2(ECE2):c.628C>T (p.Pro210Ser)	ECE2, EEF1AKMT4-ECE2 (P328S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239005	NM_001100121.2(ECE2):c.810T>A (p.Asn270Lys)	EEF1AKMT4-ECE2, ECE2 (N316K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220176	NM_001100121.2(ECE2):c.635A>G (p.Asp212Gly)	EEF1AKMT4-ECE2, ECE2 (D183G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208483	NM_001100121.2(ECE2):c.413G>A (p.Arg138His)	EEF1AKMT4-ECE2, ECE2 (R184H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789726	NM_032331.4(EEF1AKMT4):c.380T>C (p.Val127Ala)	ECE2, EEF1AKMT4 +1 more (V127A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780900	NM_001100121.2(ECE2):c.1358G>A (p.Arg453Gln)	ECE2, EEF1AKMT4-ECE2 (R453Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780899	NM_001100121.2(ECE2):c.744T>C (p.Val248=)	ECE2, EEF1AKMT4-ECE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771357	NM_001100121.2(ECE2):c.1200C>T (p.Ser400=)	ECE2, EEF1AKMT4-ECE2	Single nucleotide variant (synonymous variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47