"Revvity Omics, Revvity"[submitter] AND "KMT2C"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 872355	NM_170606.3(KMT2C):c.14669T>A (p.Phe4890Tyr)	KMT2C (F4890Y)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GUncertain significance
Select item 2433223	NM_170606.3(KMT2C):c.14343+3G>A	KMT2C	Single nucleotide variant (intron variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433220	NM_170606.3(KMT2C):c.14320T>C (p.Tyr4774His)	KMT2C (Y4774H)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 134817	NM_170606.3(KMT2C):c.14017C>T (p.Arg4673Cys)	KMT2C (R4673C)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1098665	NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe)	KMT2C (L4386F)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1663207	NM_170606.3(KMT2C):c.12444G>T (p.Pro4148=)	KMT2C	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2066887	NM_170606.3(KMT2C):c.12443C>T (p.Pro4148Leu)	KMT2C (P4148L)	Single nucleotide variant (missense variant)	KMT2C-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 134809	NM_170606.3(KMT2C):c.12370A>G (p.Met4124Val)	KMT2C (M4124V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433211	NM_170606.3(KMT2C):c.11984G>A (p.Arg3995Gln)	KMT2C (R3995Q)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433192	NM_170606.3(KMT2C):c.11405A>G (p.Asp3802Gly)	KMT2C (D3802G)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433188	NM_170606.3(KMT2C):c.11260T>C (p.Ser3754Pro)	KMT2C (S3754P)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433185	NM_170606.3(KMT2C):c.11254C>T (p.Pro3752Ser)	KMT2C (P3752S)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433214	NM_170606.3(KMT2C):c.11125A>G (p.Met3709Val)	KMT2C (M3709V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433194	NM_170606.3(KMT2C):c.10877A>C (p.His3626Pro)	KMT2C (H3626P)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 134784	NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp)	KMT2C (N3505D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2285878	NM_170606.3(KMT2C):c.10335G>T (p.Arg3445Ser)	KMT2C (R3445S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1476608	NM_170606.3(KMT2C):c.10270G>A (p.Ala3424Thr)	KMT2C (A3424T)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2433200	NM_170606.3(KMT2C):c.10144C>T (p.Arg3382Trp)	KMT2C (R3382W)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433203	NM_170606.3(KMT2C):c.10116T>G (p.Asn3372Lys)	KMT2C (N3372K)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433201	NM_170606.3(KMT2C):c.9848G>C (p.Ser3283Thr)	KMT2C (S3283T)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1505789	NM_170606.3(KMT2C):c.9823A>G (p.Met3275Val)	KMT2C (M3275V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2433209	NM_170606.3(KMT2C):c.9259A>G (p.Ile3087Val)	KMT2C (I3087V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433202	NM_170606.3(KMT2C):c.8963A>T (p.Gln2988Leu)	KMT2C (Q2988L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433195	NM_170606.3(KMT2C):c.8957G>A (p.Gly2986Asp)	KMT2C (G2986D)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433221	NM_170606.3(KMT2C):c.8849A>G (p.His2950Arg)	KMT2C (H2950R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2263907	NM_170606.3(KMT2C):c.8819C>T (p.Pro2940Leu)	KMT2C (P2940L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GUncertain significance
Select item 2433217	NM_170606.3(KMT2C):c.8792A>T (p.Asp2931Val)	KMT2C (D2931V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433204	NM_170606.3(KMT2C):c.8591A>T (p.Asp2864Val)	KMT2C (D2864V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433187	NM_170606.3(KMT2C):c.8436A>G (p.Pro2812=)	KMT2C	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433219	NM_170606.3(KMT2C):c.8298G>A (p.Met2766Ile)	KMT2C (M2766I)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433207	NM_170606.3(KMT2C):c.8218A>G (p.Thr2740Ala)	KMT2C (T2740A)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433205	NM_170606.3(KMT2C):c.8029A>G (p.Ile2677Val)	KMT2C (I2677V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433189	NM_170606.3(KMT2C):c.7786C>T (p.Arg2596Trp)	KMT2C (R2596W)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433208	NM_170606.3(KMT2C):c.7631A>G (p.Gln2544Arg)	KMT2C (Q2544R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1442261	NM_170606.3(KMT2C):c.7372T>C (p.Phe2458Leu)	KMT2C (F2458L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2689330	NM_170606.3(KMT2C):c.7258C>G (p.Leu2420Val)	KMT2C (L2420V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2433212	NM_170606.3(KMT2C):c.7133C>G (p.Thr2378Arg)	KMT2C (T2378R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2433190	NM_170606.3(KMT2C):c.6887G>T (p.Arg2296Leu)	KMT2C (R2296L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2689329	NM_170606.3(KMT2C):c.6511G>A (p.Val2171Ile)	KMT2C (V2171I)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433184	NM_170606.3(KMT2C):c.6439C>G (p.Gln2147Glu)	KMT2C (Q2147E)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433199	NM_170606.3(KMT2C):c.6431C>A (p.Ser2144Tyr)	KMT2C (S2144Y)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433196	NM_170606.3(KMT2C):c.6308C>G (p.Pro2103Arg)	KMT2C (P2103R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2433206	NM_170606.3(KMT2C):c.6278C>T (p.Pro2093Leu)	KMT2C (P2093L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1382114	NM_170606.3(KMT2C):c.5957G>A (p.Arg1986Gln)	KMT2C (R1986Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2433213	NM_170606.3(KMT2C):c.5584A>C (p.Ile1862Leu)	KMT2C (I1862L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433198	NM_170606.3(KMT2C):c.5536G>A (p.Val1846Met)	KMT2C (V1846M)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2433216	NM_170606.3(KMT2C):c.5336A>C (p.Glu1779Ala)	KMT2C (E1779A)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2689331	NM_170606.3(KMT2C):c.5198C>T (p.Ser1733Leu)	KMT2C (S1733L)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2433186	NM_170606.3(KMT2C):c.5189G>T (p.Arg1730Leu)	KMT2C (R1730L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433218	NM_170606.3(KMT2C):c.5171G>A (p.Ser1724Asn)	KMT2C (S1724N)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433191	NM_170606.3(KMT2C):c.5030A>G (p.Gln1677Arg)	KMT2C (Q1677R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1324632	NM_170606.3(KMT2C):c.3599C>G (p.Ser1200Ter)	KMT2C (S1200*)	Single nucleotide variant (nonsense)	Kleefstra syndrome 2	GLikely pathogenic
Select item 975267	NM_170606.3(KMT2C):c.3194C>G (p.Ala1065Gly)	KMT2C (A1065G)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2441011	NM_170606.3(KMT2C):c.2483del (p.Pro828fs)	KMT2C (P828fs)	Deletion (frameshift variant)	Kleefstra syndrome 2	GLikely pathogenic
Select item 2433215	NM_170606.3(KMT2C):c.2291C>T (p.Ser764Phe)	KMT2C (S764F)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 134741	NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser)	KMT2C (N567S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433222	NM_170606.3(KMT2C):c.530G>A (p.Ser177Asn)	KMT2C (S177N)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2505102	NM_170606.3(KMT2C):c.508AAG[1] (p.Lys171del)	KMT2C (K171del)	Microsatellite (inframe_deletion)	Kleefstra syndrome 2	GUncertain significance
Select item 2433210	NM_170606.3(KMT2C):c.461G>C (p.Arg154Thr)	KMT2C (R154T)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2433197	NM_170606.3(KMT2C):c.278A>T (p.Asp93Val)	KMT2C (D93V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GUncertain significance
Select item 1500428	NM_170606.3(KMT2C):c.53C>T (p.Pro18Leu)	KMT2C (P18L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity

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Items: 61