EEF1B2[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150331	GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4	ADAM23, CMKLR2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 2651836	NM_001959.4(EEF1B2):c.65A>G (p.Lys22Arg)	EEF1B2 (K22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1332885	NM_001959.4(EEF1B2):c.80+1G>C	EEF1B2	Single nucleotide variant (splice donor variant)	Global developmental delay	GPathogenic
Select item 2651837	NM_001959.4(EEF1B2):c.90A>G (p.Pro30=)	EEF1B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1332886	NM_001959.4(EEF1B2):c.185dup (p.Tyr62Ter)	EEF1B2 (Y62*)	Duplication (nonsense)	Global developmental delay	GPathogenic
Select item 3087267	NM_001959.4(EEF1B2):c.202A>G (p.Ser68Gly)	EEF1B2 (S68G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087268	NM_001959.4(EEF1B2):c.241C>T (p.Pro81Ser)	EEF1B2 (P81S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651838	NM_001959.4(EEF1B2):c.243T>G (p.Pro81=)	EEF1B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2495425	NM_001959.4(EEF1B2):c.296A>G (p.Asp99Gly)	EEF1B2 (D99G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651839	NM_001959.4(EEF1B2):c.304G>A (p.Asp102Asn)	EEF1B2 (D102N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2375240	NM_001959.4(EEF1B2):c.324T>G (p.Asp108Glu)	EEF1B2 (D108E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785986	NM_001959.4(EEF1B2):c.330+8G>A	EEF1B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2590145	NM_001959.4(EEF1B2):c.335G>A (p.Ser112Asn)	EEF1B2 (S112N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327009	NM_001959.4(EEF1B2):c.337G>A (p.Glu113Lys)	EEF1B2 (E113K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689450	NM_001959.4(EEF1B2):c.383C>A (p.Ser128Ter)	EEF1B2 (S128*)	Single nucleotide variant (nonsense)	Moderate global developmental delay +2 more	GPathogenic
Select item 2273509	NM_001959.4(EEF1B2):c.454G>A (p.Glu152Lys)	EEF1B2 (E152K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3352015	NM_001959.4(EEF1B2):c.464T>G (p.Met155Arg)	EEF1B2 (M155R)	Single nucleotide variant (missense variant)	EEF1B2-related condition	GUncertain significance
Select item 2551349	NM_001959.4(EEF1B2):c.511G>C (p.Val171Leu)	EEF1B2 (V171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477113	NM_001959.4(EEF1B2):c.532G>C (p.Val178Leu)	EEF1B2 (V178L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274543	NM_001959.4(EEF1B2):c.569A>G (p.Gln190Arg)	EEF1B2 (Q190R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1340613	GRCh37/hg19 2q33.3(chr2:206887779-207064790)x1	CMKLR2, EEF1B2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 988910	GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)x3	CD28, CMKLR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 47