EEF1D[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 2456319	NM_001130053.5(EEF1D):c.1924G>A (p.Ala642Thr)	EEF1D (A276T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 522144	NM_001130053.5(EEF1D):c.1905+1G>A	EEF1D	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2223527	NM_001130053.5(EEF1D):c.1889C>G (p.Thr630Ser)	EEF1D (T240S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038338	NM_001130053.5(EEF1D):c.1857G>A (p.Lys619=)	EEF1D	Single nucleotide variant (synonymous variant)	EEF1D-related disorder	GBenign
Select item 2455569	NM_001130053.5(EEF1D):c.1804G>A (p.Val602Met)	EEF1D (V217M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087275	NM_001130053.5(EEF1D):c.1754G>A (p.Arg585His)	EEF1D (R195H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1805634	NM_001130053.5(EEF1D):c.1753C>T (p.Arg585Cys)	EEF1D (R195C +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3040141	NM_001130053.5(EEF1D):c.1752G>C (p.Val584=)	EEF1D	Single nucleotide variant (synonymous variant)	EEF1D-related disorder	GBenign
Select item 3060516	NM_001130053.5(EEF1D):c.1734C>T (p.Ala578=)	EEF1D	Single nucleotide variant (synonymous variant)	EEF1D-related disorder	GBenign
Select item 3040628	NM_001130053.5(EEF1D):c.1725G>A (p.Thr575=)	EEF1D	Single nucleotide variant (synonymous variant)	EEF1D-related disorder	GLikely benign
Select item 2263990	NM_001130053.5(EEF1D):c.1718A>G (p.Asp573Gly)	EEF1D (D207G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473757	NM_001130053.5(EEF1D):c.1705A>G (p.Lys569Glu)	EEF1D (K179E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049853	NM_001130053.5(EEF1D):c.1645G>T (p.Ala549Ser)	EEF1D (A159S +3 more)	Single nucleotide variant (missense variant)	EEF1D-related disorder	GLikely benign
Select item 2222012	NM_001130053.5(EEF1D):c.1622G>A (p.Arg541Gln)	EEF1D (R151Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087274	NM_001130053.5(EEF1D):c.1599G>C (p.Glu533Asp)	EEF1D (E143D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658901	NM_001130053.5(EEF1D):c.1554C>T (p.Asp518=)	EEF1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087273	NM_001130053.5(EEF1D):c.1546G>C (p.Glu516Gln)	EEF1D (E126Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087272	NM_001130053.5(EEF1D):c.1541C>T (p.Pro514Leu)	EEF1D (P129L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299743	NM_001130053.5(EEF1D):c.1505G>A (p.Arg502His)	EEF1D (R117H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321641	NM_001130053.5(EEF1D):c.1492G>A (p.Val498Ile)	EEF1D (V108I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064445	NM_001130053.5(EEF1D):c.1488+1G>A	EEF1D	Single nucleotide variant (splice donor variant)	Myelodysplastic syndrome associated with isolated del(5q)	GLikely pathogenic
Select item 3087271	NM_001130053.5(EEF1D):c.1465C>T (p.Arg489Trp)	EEF1D (R104W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385725	NM_001130053.5(EEF1D):c.1454C>T (p.Ser485Leu)	EEF1D (S119L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412267	NM_001130053.5(EEF1D):c.1438G>A (p.Val480Met)	EEF1D (V95M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087270	NM_001130053.5(EEF1D):c.1432C>G (p.Leu478Val)	EEF1D (L112V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047308	NM_001130053.5(EEF1D):c.1388-3dup	EEF1D	Duplication (intron variant)	EEF1D-related disorder	GLikely benign
Select item 2318995	NM_001130053.5(EEF1D):c.1381C>T (p.Arg461Cys)	EEF1D (R71C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316624	NM_001130053.5(EEF1D):c.1355G>T (p.Ser452Ile)	EEF1D (S452I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035075	NM_001130053.5(EEF1D):c.1288-10T>C	EEF1D	Single nucleotide variant (intron variant)	EEF1D-related disorder	GLikely benign
Select item 2248133	NM_001130053.5(EEF1D):c.1240C>T (p.Arg414Cys)	EEF1D (R48C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784507	NM_001130053.5(EEF1D):c.1176C>T (p.Tyr392=)	EEF1D	Single nucleotide variant (synonymous variant)	EEF1D-related disorder +1 more	GBenign
Select item 1679566	NM_001130053.5(EEF1D):c.1156G>A (p.Asp386Asn)	EEF1D (D20N +1 more)	Single nucleotide variant (missense variant)	EEF1D-associated Neurodevelopmental Syndrome +1 more	GUncertain significance
Select item 1805560	NM_001130053.5(EEF1D):c.1114del (p.Phe371_Leu372insTer)	EEF1D	Deletion (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 982218	NM_001130053.5(EEF1D):c.1099A>G (p.Met367Val)	EEF1D (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Moyamoya angiopathy	GLikely pathogenic
Select item 3049636	NM_001130053.5(EEF1D):c.1058G>A (p.Arg353Gln)	EEF1D (R353Q)	Single nucleotide variant (missense variant +1 more)	EEF1D-related disorder	GBenign
Select item 2347410	NM_001130053.5(EEF1D):c.1052G>C (p.Gly351Ala)	EEF1D (G351A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060921	NM_001130053.5(EEF1D):c.1008G>T (p.Arg336=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder	GBenign
Select item 3087269	NM_001130053.5(EEF1D):c.1006C>T (p.Arg336Trp)	EEF1D (R336W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087288	NM_001130053.5(EEF1D):c.990C>A (p.His330Gln)	EEF1D (H330Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087287	NM_001130053.5(EEF1D):c.967G>A (p.Asp323Asn)	EEF1D (D323N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216757	NM_001130053.5(EEF1D):c.965A>C (p.Tyr322Ser)	EEF1D (Y322S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 599374	NM_001130053.5(EEF1D):c.948G>A (p.Trp316Ter)	EEF1D (W316*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive non-syndromic intellectual disability	GPathogenic
Select item 2362312	NM_001130053.5(EEF1D):c.877C>T (p.Arg293Trp)	EEF1D (R293W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3087285	NM_001130053.5(EEF1D):c.875G>A (p.Arg292Gln)	EEF1D (R292Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087284	NM_001130053.5(EEF1D):c.872T>C (p.Leu291Pro)	EEF1D (L291P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3038727	NM_001130053.5(EEF1D):c.862C>T (p.Arg288Trp)	EEF1D (R288W)	Single nucleotide variant (missense variant +1 more)	EEF1D-related disorder	GLikely benign
Select item 2477409	NM_001130053.5(EEF1D):c.842G>A (p.Arg281His)	EEF1D (R281H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087283	NM_001130053.5(EEF1D):c.824G>A (p.Arg275His)	EEF1D (R275H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087282	NM_001130053.5(EEF1D):c.814C>T (p.Arg272Trp)	EEF1D (R272W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716124	NM_001130053.5(EEF1D):c.805G>A (p.Glu269Lys)	EEF1D (E269K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3039615	NM_001130053.5(EEF1D):c.796G>A (p.Gly266Ser)	EEF1D (G266S)	Single nucleotide variant (missense variant +1 more)	EEF1D-related disorder	GLikely benign
Select item 2519829	NM_001130053.5(EEF1D):c.791G>A (p.Arg264Gln)	EEF1D (R264Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609380	NM_001130053.5(EEF1D):c.764C>T (p.Pro255Leu)	EEF1D (P255L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087281	NM_001130053.5(EEF1D):c.763C>T (p.Pro255Ser)	EEF1D (P255S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045543	NM_001130053.5(EEF1D):c.756C>T (p.Asp252=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder	GLikely benign
Select item 2230258	NM_001130053.5(EEF1D):c.689G>A (p.Arg230Gln)	EEF1D (R230Q)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3087280	NM_001130053.5(EEF1D):c.679G>T (p.Ala227Ser)	EEF1D (A227S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581059	NM_001130053.5(EEF1D):c.676C>T (p.Gln226Ter)	EEF1D (Q226*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087279	NM_001130053.5(EEF1D):c.619G>A (p.Asp207Asn)	EEF1D (D207N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461023	NM_001130053.5(EEF1D):c.603G>C (p.Gln201His)	EEF1D (Q201H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337741	NM_001130053.5(EEF1D):c.589C>G (p.Pro197Ala)	EEF1D (P197A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788873	NM_001130053.5(EEF1D):c.567= (p.Asp189=)	EEF1D	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 2220420	NM_001130053.5(EEF1D):c.563C>G (p.Pro188Arg)	EEF1D (P188R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472059	NM_001130053.5(EEF1D):c.547G>T (p.Ala183Ser)	EEF1D (A183S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3087278	NM_001130053.5(EEF1D):c.476T>C (p.Val159Ala)	EEF1D (V159A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369702	NM_001130053.5(EEF1D):c.475G>A (p.Val159Met)	EEF1D (V159M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719910	NM_001130053.5(EEF1D):c.465C>T (p.Ala155=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 787060	NM_001130053.5(EEF1D):c.404A>G (p.Gln135Arg)	EEF1D (Q135R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3087277	NM_001130053.5(EEF1D):c.391G>T (p.Asp131Tyr)	EEF1D (D131Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557288	NM_001130053.5(EEF1D):c.364G>A (p.Glu122Lys)	EEF1D (E122K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039155	NM_001130053.5(EEF1D):c.354C>T (p.Phe118=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder	GLikely benign
Select item 787061	NM_001130053.5(EEF1D):c.347C>T (p.Ser116Leu)	EEF1D (S116L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3087276	NM_001130053.5(EEF1D):c.331G>C (p.Val111Leu)	EEF1D (V111L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060863	NM_001130053.5(EEF1D):c.330C>T (p.Arg110=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder	GBenign
Select item 2358101	NM_001130053.5(EEF1D):c.307C>T (p.Leu103Phe)	EEF1D (L103F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780132	NM_001130053.5(EEF1D):c.297G>A (p.Ala99=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder +1 more	GBenign
Select item 2398087	NM_001130053.5(EEF1D):c.289G>A (p.Gly97Ser)	EEF1D (G97S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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