"PreventionGenetics, part of Exact Sciences"[submitter] AND "KMT2E"[ge - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2150692	NM_182931.3(KMT2E):c.21G>A (p.Leu7=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder +1 more	GLikely benign
Select item 2065812	NM_182931.3(KMT2E):c.42G>A (p.Thr14=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2417530	NM_182931.3(KMT2E):c.72-3dup	KMT2E	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3015598	NM_182931.3(KMT2E):c.142A>G (p.Ser48Gly)	KMT2E (S48G)	Single nucleotide variant (missense variant)	KMT2E-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1599606	NM_182931.3(KMT2E):c.498-7A>G	KMT2E	Single nucleotide variant (intron variant)	KMT2E-related disorder +1 more	GBenign
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 2063412	NM_182931.3(KMT2E):c.729+4C>T	KMT2E	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2635474	NM_182931.3(KMT2E):c.778C>T (p.Pro260Ser)	KMT2E (P260S)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 2629748	NM_182931.3(KMT2E):c.800A>G (p.Asp267Gly)	KMT2E (D267G)	Single nucleotide variant (missense variant)	KMT2E-related disorder +1 more	GUncertain significance
Select item 3040402	NM_182931.3(KMT2E):c.1188T>C (p.Asp396=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 3058229	NM_182931.3(KMT2E):c.1224G>A (p.Arg408=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 3037093	NM_182931.3(KMT2E):c.1359-5T>C	KMT2E	Single nucleotide variant (intron variant)	KMT2E-related disorder	GLikely benign
Select item 2070417	NM_182931.3(KMT2E):c.1446T>C (p.Asn482=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder +1 more	GLikely benign
Select item 2039668	NM_182931.3(KMT2E):c.1518T>C (p.Asn506=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2632849	NM_182931.3(KMT2E):c.1538G>A (p.Cys513Tyr)	KMT2E (C513Y)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 2629142	NM_182931.3(KMT2E):c.1660_1662del (p.Pro554del)	KMT2E (P554del)	Deletion (inframe_deletion)	KMT2E-related disorder	GUncertain significance
Select item 2049916	NM_182931.3(KMT2E):c.1934T>G (p.Val645Gly)	KMT2E (V645G)	Single nucleotide variant (missense variant)	KMT2E-related disorder +1 more	GUncertain significance
Select item 2631636	NM_182931.3(KMT2E):c.2011G>A (p.Val671Ile)	KMT2E (V671I)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 2143325	NM_182931.3(KMT2E):c.2514C>G (p.Pro838=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder +1 more	GLikely benign
Select item 2884564	NM_182931.3(KMT2E):c.2631T>C (p.Tyr877=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder +1 more	GLikely benign
Select item 2080940	NM_182931.3(KMT2E):c.2701A>T (p.Thr901Ser)	KMT2E (T901S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2084890	NM_182931.3(KMT2E):c.2887C>T (p.Arg963Cys)	KMT2E (R963C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2636027	NM_182931.3(KMT2E):c.2888G>A (p.Arg963His)	KMT2E (R963H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2077825	NM_182931.3(KMT2E):c.3123G>A (p.Thr1041=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2630466	NM_182931.3(KMT2E):c.3191A>G (p.Tyr1064Cys)	KMT2E (Y1064C)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 3046519	NM_182931.3(KMT2E):c.3432G>A (p.Gly1144=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 2047530	NM_182931.3(KMT2E):c.3554C>T (p.Ser1185Leu)	KMT2E (S1185L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3039759	NM_182931.3(KMT2E):c.3579C>T (p.Ser1193=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 2056592	NM_182931.3(KMT2E):c.3584A>G (p.Asn1195Ser)	KMT2E (N1195S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3034650	NM_182931.3(KMT2E):c.3838G>C (p.Asp1280His)	KMT2E (D1280H)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 2630394	NM_182931.3(KMT2E):c.3938G>A (p.Gly1313Asp)	KMT2E (G1313D)	Single nucleotide variant (missense variant +1 more)	KMT2E-related disorder	GUncertain significance
Select item 2074720	NM_182931.3(KMT2E):c.3973C>T (p.Pro1325Ser)	KMT2E (P1283S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 3061294	NM_182931.3(KMT2E):c.4130_4132delinsT (p.Asp1377fs)	KMT2E (D1335fs +1 more)	Indel (frameshift variant)	KMT2E-related disorder	GLikely pathogenic
Select item 2058002	NM_182931.3(KMT2E):c.4182C>G (p.His1394Gln)	KMT2E (H1352Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2628478	NM_182931.3(KMT2E):c.4199A>C (p.Gln1400Pro)	KMT2E (Q1358P +1 more)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 1576685	NM_182931.3(KMT2E):c.4220A>G (p.Asn1407Ser)	KMT2E (N1407S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2038956	NM_182931.3(KMT2E):c.4270T>C (p.Ser1424Pro)	KMT2E (S1424P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2144860	NM_182931.3(KMT2E):c.4431C>T (p.Pro1477=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2061116	NM_182931.3(KMT2E):c.4497T>C (p.Phe1499=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2055092	NM_182931.3(KMT2E):c.4639CCACCTCCT[1] (p.Pro1550_Pro1552del)	KMT2E	Microsatellite (inframe_indel +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2631705	NM_182931.3(KMT2E):c.4656_4661del (p.Ser1554_Ser1555del)	KMT2E	Deletion (inframe_deletion)	KMT2E-related disorder	GUncertain significance
Select item 2636011	NM_182931.3(KMT2E):c.4762C>A (p.Gln1588Lys)	KMT2E (Q1546K +1 more)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 2657914	NM_182931.3(KMT2E):c.4914G>A (p.Pro1638=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2049885	NM_182931.3(KMT2E):c.4985T>C (p.Val1662Ala)	KMT2E (V1620A +1 more)	Single nucleotide variant (missense variant)	KMT2E-related disorder +1 more	GBenign
Select item 1597335	NM_182931.3(KMT2E):c.5034C>T (p.Pro1678=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder +1 more	GLikely benign
Select item 3060867	NM_182931.3(KMT2E):c.5037A>C (p.Pro1679=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 3059431	NM_182931.3(KMT2E):c.5043A>C (p.Pro1681=)	KMT2E	Single nucleotide variant (synonymous variant)	KMT2E-related disorder	GLikely benign
Select item 2020087	NM_182931.3(KMT2E):c.5061C>T (p.Ala1687=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2637252	NM_182931.3(KMT2E):c.5210A>G (p.Gln1737Arg)	KMT2E (Q1695R +1 more)	Single nucleotide variant (missense variant)	KMT2E-related disorder	GUncertain significance
Select item 2049045	NM_182931.3(KMT2E):c.5239C>G (p.Pro1747Ala)	KMT2E (P1705A +1 more)	Single nucleotide variant (missense variant)	KMT2E-related disorder +1 more	GBenign
Select item 2064213	NM_182931.3(KMT2E):c.5256G>A (p.Ser1752=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2079222	NM_182931.3(KMT2E):c.5271T>C (p.Thr1757=)	KMT2E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 708789	NM_182931.3(KMT2E):c.5350C>T (p.Pro1784Ser)	KMT2E (P1784S)	Single nucleotide variant (missense variant)	KMT2E-related disorder +1 more	GLikely benign
Select item 2024294	NM_182931.3(KMT2E):c.5555dup (p.Tyr1852Ter)	KMT2E (Y1852*)	Duplication (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 54