EEF1AKMT4[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 148845	GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	ABCC5, ABCC5-AS1 +63 more	Copy number gain	See cases	GUncertain significance
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 57995	GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3	ALG3, CAMK2N2 +35 more	Copy number gain	See cases	GPathogenic
Select item 60129	GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1	EIF4G1, FAM131A +26 more	Copy number loss	See cases	GUncertain significance
Select item 147717	GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3	ALG3, CAMK2N2 +24 more	Copy number gain	See cases	GBenign
Select item 2671826	NM_005787.6(ALG3):c.487C>T (p.Arg163Cys)	ALG3, EEF1AKMT4 +3 more (R115C +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 3274391	NM_014693.4(EEF1AKMT4-ECE2):c.4G>A (p.Ala2Thr)	ECE2, EEF1AKMT4 +1 more (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086902	NM_014693.4(EEF1AKMT4-ECE2):c.13G>A (p.Gly5Arg)	ECE2, EEF1AKMT4 +1 more (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486031	NM_014693.4(EEF1AKMT4-ECE2):c.19G>A (p.Gly7Ser)	ECE2, EEF1AKMT4 +1 more (G7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390740	NM_014693.4(EEF1AKMT4-ECE2):c.35A>G (p.Glu12Gly)	ECE2, EEF1AKMT4 +1 more (E12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274389	NM_014693.4(EEF1AKMT4-ECE2):c.53G>A (p.Cys18Tyr)	ECE2, EEF1AKMT4 +1 more (C18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613152	NM_014693.4(EEF1AKMT4-ECE2):c.59A>G (p.Tyr20Cys)	ECE2, EEF1AKMT4 +1 more (Y20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552592	NM_014693.4(EEF1AKMT4-ECE2):c.70G>C (p.Glu24Gln)	ECE2, EEF1AKMT4 +1 more (E24Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598583	NM_014693.4(EEF1AKMT4-ECE2):c.116A>G (p.Tyr39Cys)	ECE2, EEF1AKMT4 +1 more (Y39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319245	NM_014693.4(EEF1AKMT4-ECE2):c.223G>A (p.Glu75Lys)	ECE2, EEF1AKMT4 +1 more (E75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386716	NM_014693.4(EEF1AKMT4-ECE2):c.277G>A (p.Val93Met)	ECE2, EEF1AKMT4 +1 more (V93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086917	NM_014693.4(EEF1AKMT4-ECE2):c.298C>T (p.Arg100Cys)	ECE2, EEF1AKMT4 +1 more (R100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086918	NM_014693.4(EEF1AKMT4-ECE2):c.357C>G (p.Phe119Leu)	ECE2, EEF1AKMT4 +1 more (F119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789726	NM_014693.4(EEF1AKMT4-ECE2):c.380T>C (p.Val127Ala)	ECE2, EEF1AKMT4 +1 more (V127A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2293913	NM_014693.4(EEF1AKMT4-ECE2):c.397C>A (p.Leu133Met)	ECE2, EEF1AKMT4 +1 more (L133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459121	NM_014693.4(EEF1AKMT4-ECE2):c.400G>C (p.Asp134His)	ECE2, EEF1AKMT4 +1 more (D134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466133	NM_014693.4(EEF1AKMT4-ECE2):c.422G>A (p.Arg141Gln)	ECE2, EEF1AKMT4 +1 more (R141Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 38