EIF6[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152501	GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1	EDEM2, EIF6 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 3088094	NM_002212.4(EIF6):c.703A>G (p.Ser235Gly)	EIF6 (S216G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275089	NM_002212.4(EIF6):c.592G>C (p.Val198Leu)	EIF6 (V179L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345978	NM_002212.4(EIF6):c.592G>T (p.Val198Leu)	EIF6 (V198L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606142	NM_002212.4(EIF6):c.568A>G (p.Ser190Gly)	EIF6 (S190G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088093	NM_002212.4(EIF6):c.491A>G (p.Lys164Arg)	EIF6 (K164R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2627997	NM_002212.4(EIF6):c.467A>G (p.Asn156Ser)	EIF6 (N137S +1 more)	Single nucleotide variant (missense variant +1 more)	Exstrophy-epispadias complex	GUncertain significance
Select item 2411787	NM_002212.4(EIF6):c.430G>A (p.Asp144Asn)	EIF6 (D125N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088092	NM_002212.4(EIF6):c.371A>T (p.Glu124Val)	EIF6 (E105V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234142	NM_002212.4(EIF6):c.339C>T (p.Tyr113=)	EIF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2363490	NM_002212.4(EIF6):c.299G>A (p.Arg100Gln)	EIF6 (R100Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088091	NM_002212.4(EIF6):c.271A>G (p.Thr91Ala)	EIF6 (T91A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2231984	NM_002212.4(EIF6):c.254G>A (p.Arg85His)	EIF6 (R85H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595221	NM_002212.4(EIF6):c.232G>A (p.Asp78Asn)	EIF6 (D78N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2349388	NM_002212.4(EIF6):c.157A>G (p.Ile53Val)	EIF6 (I53V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346098	NM_002212.4(EIF6):c.100T>C (p.Phe34Leu)	EIF6 (F34L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255883	NM_002212.4(EIF6):c.53A>G (p.Lys18Arg)	EIF6 (K18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 30