KMT2E[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 152078	GRCh38/hg38 7q22.2-22.3(chr7:104434729-106134635)x3	ATXN7L1, CDHR3 +71 more	Copy number gain	See cases	GUncertain significance
Select item 2577643	NM_182931.3(KMT2E):c.-95A>G	KMT2E	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2582434	NM_182931.3(KMT2E):c.13A>T (p.Ile5Phe)	KMT2E (I5F)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2433253	NM_182931.3(KMT2E):c.14T>A (p.Ile5Asn)	KMT2E (I5N)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2103336	NM_182931.3(KMT2E):c.18A>G (p.Pro6=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991947	NM_182931.3(KMT2E):c.19T>C (p.Leu7=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150692	NM_182931.3(KMT2E):c.21G>A (p.Leu7=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3371482	NM_182931.3(KMT2E):c.22G>C (p.Gly8Arg)	KMT2E (G8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787715	NM_182931.3(KMT2E):c.32C>T (p.Thr11Ile)	KMT2E (T11I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065812	NM_182931.3(KMT2E):c.42G>A (p.Thr14=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1307497	NM_182931.3(KMT2E):c.53A>G (p.Glu18Gly)	KMT2E (E18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098297	NM_182931.3(KMT2E):c.65del (p.Gly22fs)	KMT2E (G22fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 3252452	NM_182931.3(KMT2E):c.68C>T (p.Ser23Leu)	KMT2E (S23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376544	NM_182931.3(KMT2E):c.71+1G>C	KMT2E	Single nucleotide variant (splice donor variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 2877998	NM_182931.3(KMT2E):c.71+20del	KMT2E	Deletion (intron variant)	not provided	GLikely benign
Select item 1657509	NM_182931.3(KMT2E):c.72-17C>G	KMT2E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2417530	NM_182931.3(KMT2E):c.72-3dup	KMT2E	Duplication (intron variant)	not provided	GBenign
Select item 2160341	NM_182931.3(KMT2E):c.72-8C>T	KMT2E	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2155328	NM_182931.3(KMT2E):c.75A>G (p.Pro25=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2881644	NM_182931.3(KMT2E):c.81C>T (p.Ser27=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710156	NM_182931.3(KMT2E):c.82G>A (p.Val28Ile)	KMT2E (V28I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754450	NM_182931.3(KMT2E):c.99G>C (p.Val33=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777654	NM_182931.3(KMT2E):c.104T>C (p.Val35Ala)	KMT2E (V35A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1693394	NM_182931.3(KMT2E):c.106G>C (p.Glu36Gln)	KMT2E (E36Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783535	NM_182931.3(KMT2E):c.136T>C (p.Tyr46His)	KMT2E (Y46H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015598	NM_182931.3(KMT2E):c.142A>G (p.Ser48Gly)	KMT2E (S48G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975039	NM_182931.3(KMT2E):c.147C>T (p.Ser49=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805896	NM_182931.3(KMT2E):c.167del (p.Tyr56fs)	KMT2E (Y56fs)	Deletion (frameshift variant)	See cases	GUncertain significance
Select item 2067876	NM_182931.3(KMT2E):c.170T>C (p.Ile57Thr)	KMT2E (I57T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2776975	NM_182931.3(KMT2E):c.171T>A (p.Ile57=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1098301	NM_182931.3(KMT2E):c.183_186+2del	KMT2E	Deletion (splice donor variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 2572284	NM_182931.3(KMT2E):c.186G>A (p.Ala62=)	KMT2E	Single nucleotide variant (synonymous variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 2022588	NM_182931.3(KMT2E):c.186+12_186+21del	KMT2E	Deletion (intron variant)	not provided	GLikely benign
Select item 1706585	NM_182931.3(KMT2E):c.187-9A>G	KMT2E	Single nucleotide variant (intron variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 1312251	NM_182931.3(KMT2E):c.187-3C>G	KMT2E	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2058022	NM_182931.3(KMT2E):c.198T>C (p.Tyr66=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865952	NM_182931.3(KMT2E):c.208C>G (p.Pro70Ala)	KMT2E (P70A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090661	NM_182931.3(KMT2E):c.215C>T (p.Pro72Leu)	KMT2E (P72L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985264	NM_182931.3(KMT2E):c.221C>T (p.Pro74Leu)	KMT2E (P74L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136009	NM_182931.3(KMT2E):c.224C>T (p.Pro75Leu)	KMT2E (P75L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106378	NM_182931.3(KMT2E):c.225G>A (p.Pro75=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782710	NM_182931.3(KMT2E):c.231C>T (p.Ser77=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3339069	NM_182931.3(KMT2E):c.240A>C (p.Pro80=)	KMT2E	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2664038	NM_182931.3(KMT2E):c.241T>C (p.Ser81Pro)	KMT2E (S81P)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2576669	NM_182931.3(KMT2E):c.242C>T (p.Ser81Leu)	KMT2E (S81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906658	NM_182931.3(KMT2E):c.246C>G (p.Val82=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3347935	NM_182931.3(KMT2E):c.254G>A (p.Ser85Asn)	KMT2E (S85N)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 2868415	NM_182931.3(KMT2E):c.255C>T (p.Ser85=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1098302	NM_182931.3(KMT2E):c.264A>G (p.Glu88=)	KMT2E	Single nucleotide variant (synonymous variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 2054694	NM_182931.3(KMT2E):c.271A>T (p.Ile91Leu)	KMT2E (I91L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880333	NM_182931.3(KMT2E):c.280A>T (p.Thr94Ser)	KMT2E (T94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805897	NM_182931.3(KMT2E):c.280del (p.Thr94fs)	KMT2E (T94fs)	Deletion (frameshift variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 3016657	NM_182931.3(KMT2E):c.281C>T (p.Thr94Ile)	KMT2E (T94I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1907674	NM_182931.3(KMT2E):c.281C>G (p.Thr94Ser)	KMT2E (T94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341375	NM_182931.3(KMT2E):c.284dup (p.Pro95_Asn96insTer)	KMT2E	Duplication (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 2060339	NM_182931.3(KMT2E):c.291T>C (p.Phe97=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1076869	NM_182931.3(KMT2E):c.303del (p.Ser102fs)	KMT2E (S102fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2144302	NM_182931.3(KMT2E):c.310A>G (p.Thr104Ala)	KMT2E (T104A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346887	NM_182931.3(KMT2E):c.311C>G (p.Thr104Ser)	KMT2E (T104S)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 2792982	NM_182931.3(KMT2E):c.315A>G (p.Thr105=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2433251	NM_182931.3(KMT2E):c.316A>G (p.Ile106Val)	KMT2E (I106V)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2777702	NM_182931.3(KMT2E):c.322A>G (p.Thr108Ala)	KMT2E (T108A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791754	NM_182931.3(KMT2E):c.337A>G (p.Ser113Gly)	KMT2E (S113G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344269	NM_182931.3(KMT2E):c.347C>T (p.Thr116Ile)	KMT2E (T116I)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 2703001	NM_182931.3(KMT2E):c.364A>G (p.Ile122Val)	KMT2E (I122V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829658	NM_182931.3(KMT2E):c.416+9T>C	KMT2E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971768	NM_182931.3(KMT2E):c.417-5T>C	KMT2E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421159	NM_182931.3(KMT2E):c.417-2dup	KMT2E	Duplication (splice acceptor variant)	O'Donnell-Luria-Rodan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2151152	NM_182931.3(KMT2E):c.417C>T (p.Ser139=)	KMT2E	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 638175	NM_182931.3(KMT2E):c.418G>A (p.Val140Ile)	KMT2E (V140I)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 3367075	NM_182931.3(KMT2E):c.419T>A (p.Val140Asp)	KMT2E (V140D)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome	GUncertain significance
Select item 2854270	NM_182931.3(KMT2E):c.426A>G (p.Gln142=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 638174	NM_182931.3(KMT2E):c.450dup (p.Arg151Ter)	KMT2E (R151*)	Duplication (nonsense)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 1878695	NM_182931.3(KMT2E):c.450T>G (p.Asp150Glu)	KMT2E (D150E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805898	NM_182931.3(KMT2E):c.450del (p.Asp150fs)	KMT2E (D150fs)	Deletion (frameshift variant)	See cases	GUncertain significance
Select item 2415752	NM_182931.3(KMT2E):c.474T>C (p.Tyr158=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328418	NM_182931.3(KMT2E):c.497+6T>C	KMT2E	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2169415	NM_182931.3(KMT2E):c.497+8G>A	KMT2E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599606	NM_182931.3(KMT2E):c.498-7A>G	KMT2E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2042229	NM_182931.3(KMT2E):c.498-4G>A	KMT2E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1068746	NM_182931.3(KMT2E):c.529C>T (p.Gln177Ter)	KMT2E (Q177*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1904079	NM_182931.3(KMT2E):c.531A>G (p.Gln177=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049915	NM_182931.3(KMT2E):c.532C>T (p.Arg178Cys)	KMT2E (R178C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799870	NM_182931.3(KMT2E):c.535C>T (p.Arg179Trp)	KMT2E (R179W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881422	NM_182931.3(KMT2E):c.536G>A (p.Arg179Gln)	KMT2E (R179Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3075986	NM_182931.3(KMT2E):c.544dup (p.Glu182fs)	KMT2E (E182fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2693138	NM_182931.3(KMT2E):c.542G>T (p.Arg181Met)	KMT2E (R181M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2634034	NM_182931.3(KMT2E):c.544G>A (p.Glu182Lys)	KMT2E (E182K)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 805899	NM_182931.3(KMT2E):c.556+1G>A	KMT2E	Single nucleotide variant (splice donor variant)	See cases	GUncertain significance
Select item 2067388	NM_182931.3(KMT2E):c.556+3A>G	KMT2E	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2022479	NM_182931.3(KMT2E):c.556+5G>C	KMT2E	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2049098	NM_182931.3(KMT2E):c.557-13A>G	KMT2E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895198	NM_182931.3(KMT2E):c.576T>C (p.Thr192=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1217051	NM_182931.3(KMT2E):c.598G>A (p.Val200Met)	KMT2E (V200M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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