"KMT2C-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 118

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2635223	NM_170606.3(KMT2C):c.14543A>G (p.Asn4848Ser)	KMT2C (N4848S)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 2063679	NM_170606.3(KMT2C):c.14421C>T (p.Asn4807=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign
Select item 3058011	NM_170606.3(KMT2C):c.14280G>A (p.Ser4760=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder	GLikely benign
Select item 2633207	NM_170606.3(KMT2C):c.14245C>T (p.Pro4749Ser)	KMT2C (P4749S)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GLikely pathogenic
Select item 3029706	NM_170606.3(KMT2C):c.14154T>C (p.His4718=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder	GLikely benign
Select item 1168383	NM_170606.3(KMT2C):c.14022A>T (p.Ile4674=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign/Likely benign
Select item 1662905	NM_170606.3(KMT2C):c.13931T>G (p.Val4644Gly)	KMT2C (V4644G)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 3047485	NM_170606.3(KMT2C):c.13856G>A (p.Gly4619Asp)	KMT2C (G4619D)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3048117	NM_170606.3(KMT2C):c.13779T>C (p.Asn4593=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder	GLikely benign
Select item 2629874	NM_170606.3(KMT2C):c.13539G>C (p.Glu4513Asp)	KMT2C (E4513D)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 134815	NM_170606.3(KMT2C):c.13522C>T (p.Pro4508Ser)	KMT2C (P4508S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1607013	NM_170606.3(KMT2C):c.13311G>A (p.Thr4437=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 3034985	NM_170606.3(KMT2C):c.13302G>A (p.Leu4434=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder	GLikely benign
Select item 3033196	NM_170606.3(KMT2C):c.13019G>A (p.Gly4340Asp)	KMT2C (G4340D)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 1130796	NM_170606.3(KMT2C):c.12898T>C (p.Ser4300Pro)	KMT2C (S4300P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 134812	NM_170606.3(KMT2C):c.12755C>T (p.Ala4252Val)	KMT2C (A4252V)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GLikely benign
Select item 1712288	NM_170606.3(KMT2C):c.12674G>A (p.Arg4225Gln)	KMT2C (R4225Q)	Single nucleotide variant (missense variant)	KMT2C-related disorder +2 more	GUncertain significance
Select item 134811	NM_170606.3(KMT2C):c.12655C>G (p.Leu4219Val)	KMT2C (L4219V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2631316	NM_170606.3(KMT2C):c.12653C>T (p.Thr4218Ile)	KMT2C (T4218I)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 1569460	NM_170606.3(KMT2C):c.12557G>A (p.Gly4186Asp)	KMT2C (G4186D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1668856	NM_170606.3(KMT2C):c.12552T>C (p.Ser4184=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2658197	NM_170606.3(KMT2C):c.12444G>A (p.Pro4148=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GLikely benign
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 3054163	NM_170606.3(KMT2C):c.12434G>A (p.Arg4145His)	KMT2C (R4145H)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GLikely benign
Select item 2632154	NM_170606.3(KMT2C):c.12280A>G (p.Ile4094Val)	KMT2C (I4094V)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 780728	NM_170606.3(KMT2C):c.12195G>A (p.Ala4065=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2635724	NM_170606.3(KMT2C):c.12151A>G (p.Arg4051Gly)	KMT2C (R4051G)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2056096	NM_170606.3(KMT2C):c.12093G>A (p.Pro4031=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2633512	NM_170606.3(KMT2C):c.11969A>T (p.Asp3990Val)	KMT2C (D3990V)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 134806	NM_170606.3(KMT2C):c.11614G>A (p.Glu3872Lys)	KMT2C (E3872K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2052610	NM_170606.3(KMT2C):c.11613C>T (p.Asp3871=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 134804	NM_170606.3(KMT2C):c.11528G>C (p.Gly3843Ala)	KMT2C, LOC129999675 (G3843A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 134793	NM_170606.3(KMT2C):c.11374C>A (p.Gln3792Lys)	KMT2C (Q3792K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2960935	NM_170606.3(KMT2C):c.11225G>C (p.Ser3742Thr)	KMT2C (S3742T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 134799	NM_170606.3(KMT2C):c.11167G>C (p.Ala3723Pro)	KMT2C (A3723P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2632648	NM_170606.3(KMT2C):c.11132C>A (p.Thr3711Asn)	KMT2C (T3711N)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 2629909	NM_170606.3(KMT2C):c.11092A>G (p.Thr3698Ala)	KMT2C (T3698A)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 2629856	NM_170606.3(KMT2C):c.10930C>G (p.Pro3644Ala)	KMT2C (P3644A)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 770568	NM_170606.3(KMT2C):c.10911C>T (p.Ile3637=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 134789	NM_170606.3(KMT2C):c.10763C>T (p.Ser3588Leu)	KMT2C (S3588L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 134785	NM_170606.3(KMT2C):c.10723A>G (p.Thr3575Ala)	KMT2C (T3575A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 134802	NM_170606.3(KMT2C):c.10639T>C (p.Ser3547Pro)	KMT2C (S3547P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 2636816	NM_170606.3(KMT2C):c.10459A>G (p.Asn3487Asp)	KMT2C (N3487D)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GUncertain significance
Select item 134788	NM_170606.3(KMT2C):c.10432C>G (p.Gln3478Glu)	KMT2C (Q3478E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 134787	NM_170606.3(KMT2C):c.10403C>T (p.Pro3468Leu)	KMT2C (P3468L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1634218	NM_170606.3(KMT2C):c.10395T>G (p.Pro3465=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign/Likely benign
Select item 1476606	NM_170606.3(KMT2C):c.10308G>A (p.Met3436Ile)	KMT2C (M3436I)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GUncertain significance
Select item 2174429	NM_170606.3(KMT2C):c.10040A>G (p.Asn3347Ser)	KMT2C (N3347S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2917227	NM_170606.3(KMT2C):c.9987G>A (p.Met3329Ile)	KMT2C (M3329I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2478736	NM_170606.3(KMT2C):c.9949A>G (p.Thr3317Ala)	KMT2C (T3317A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 134794	NM_170606.3(KMT2C):c.9931C>T (p.Leu3311Phe)	KMT2C (L3311F)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 3038804	NM_170606.3(KMT2C):c.9765G>A (p.Gln3255=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder	GLikely benign
Select item 1620963	NM_170606.3(KMT2C):c.9564A>G (p.Gln3188=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3029758	NM_170606.3(KMT2C):c.9349G>C (p.Gly3117Arg)	KMT2C (G3117R)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3034977	NM_170606.3(KMT2C):c.9159A>G (p.Leu3053=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder	GLikely benign
Select item 786552	NM_170606.3(KMT2C):c.9150A>G (p.Glu3050=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign
Select item 1568753	NM_170606.3(KMT2C):c.9138T>A (p.Leu3046=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 1522703	NM_170606.3(KMT2C):c.9109_9111del (p.Leu3037del)	KMT2C (L3037del)	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3029018	NM_170606.3(KMT2C):c.9072C>T (p.Ser3024=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder	GLikely benign
Select item 1560676	NM_170606.3(KMT2C):c.8880G>A (p.Pro2960=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign/Likely benign
Select item 2271979	NM_170606.3(KMT2C):c.8686G>A (p.Ala2896Thr)	KMT2C (A2896T)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GUncertain significance
Select item 2635093	NM_170606.3(KMT2C):c.8572G>A (p.Ala2858Thr)	KMT2C (A2858T)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 134773	NM_170606.3(KMT2C):c.8502A>T (p.Glu2834Asp)	KMT2C (E2834D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134772	NM_170606.3(KMT2C):c.8488A>C (p.Asn2830His)	KMT2C (N2830H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 134771	NM_170606.3(KMT2C):c.8459A>G (p.Asn2820Ser)	KMT2C (N2820S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1169600	NM_170606.3(KMT2C):c.8040G>A (p.Gln2680=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign
Select item 134781	NM_170606.3(KMT2C):c.7958T>C (p.Leu2653Pro)	KMT2C (L2653P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 134776	NM_170606.3(KMT2C):c.7957C>G (p.Leu2653Val)	KMT2C (L2653V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 134779	NM_170606.3(KMT2C):c.7829G>A (p.Arg2610Gln)	KMT2C (R2610Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 769337	NM_170606.3(KMT2C):c.7491C>T (p.Arg2497=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign
Select item 2145076	NM_170606.3(KMT2C):c.7489C>T (p.Arg2497Cys)	KMT2C (R2497C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1078577	NM_170606.3(KMT2C):c.7443-6_7443-5insTA	KMT2C	Insertion (intron variant)	KMT2C-related disorder +2 more	GBenign/Likely benign
Select item 3036524	NM_170606.3(KMT2C):c.7443-15_7443-6del	KMT2C	Deletion (intron variant)	KMT2C-related disorder	GLikely benign
Select item 739397	NM_170606.3(KMT2C):c.7443-8T>A	KMT2C	Single nucleotide variant (intron variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 2712272	NM_170606.3(KMT2C):c.7443-9T>A	KMT2C	Single nucleotide variant (intron variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 2505868	NM_170606.3(KMT2C):c.7388G>A (p.Arg2463His)	KMT2C (R2463H)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2631734	NM_170606.3(KMT2C):c.7189C>G (p.Gln2397Glu)	KMT2C (Q2397E)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3058350	NM_170606.3(KMT2C):c.7150-6A>G	KMT2C	Single nucleotide variant (intron variant)	KMT2C-related disorder	GLikely benign
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 1451797	NM_170606.3(KMT2C):c.7077G>A (p.Val2359=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 134767	NM_170606.3(KMT2C):c.6965T>C (p.Val2322Ala)	KMT2C (V2322A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1690908	NM_170606.3(KMT2C):c.6910A>G (p.Met2304Val)	KMT2C (M2304V)	Single nucleotide variant (missense variant)	KMT2C-related disorder +2 more	GBenign/Likely benign
Select item 2959711	NM_170606.3(KMT2C):c.6751C>T (p.Leu2251=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1170675	NM_170606.3(KMT2C):c.6653A>C (p.Tyr2218Ser)	KMT2C (Y2218S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1564833	NM_170606.3(KMT2C):c.6530A>G (p.Gln2177Arg)	KMT2C (Q2177R)	Single nucleotide variant (missense variant)	KMT2C-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1701541	NM_170606.3(KMT2C):c.6383A>C (p.Gln2128Pro)	KMT2C (Q2128P)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 2863178	NM_170606.3(KMT2C):c.6372G>A (p.Arg2124=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 1625614	NM_170606.3(KMT2C):c.6339A>G (p.Ser2113=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 134755	NM_170606.3(KMT2C):c.6275A>T (p.Asp2092Val)	KMT2C (D2092V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 134766	NM_170606.3(KMT2C):c.6073T>A (p.Ser2025Thr)	KMT2C (S2025T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1528045	NM_170606.3(KMT2C):c.5952A>C (p.Leu1984=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign
Select item 134760	NM_170606.3(KMT2C):c.5861C>G (p.Ser1954Cys)	KMT2C (S1954C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1346654	NM_170606.3(KMT2C):c.5713C>G (p.Pro1905Ala)	KMT2C (P1905A)	Single nucleotide variant (missense variant)	KMT2C-related disorder +1 more	GBenign/Likely benign
Select item 2054898	NM_170606.3(KMT2C):c.5683A>G (p.Met1895Val)	KMT2C (M1895V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1558910	NM_170606.3(KMT2C):c.5634A>C (p.Ser1878=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign/Likely benign
Select item 1600071	NM_170606.3(KMT2C):c.5631C>G (p.Pro1877=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 134757	NM_170606.3(KMT2C):c.5587C>G (p.Pro1863Ala)	KMT2C (P1863A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1671078	NM_170606.3(KMT2C):c.5532T>C (p.Asp1844=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GBenign/Likely benign
Select item 2637099	NM_170606.3(KMT2C):c.5444G>A (p.Gly1815Asp)	KMT2C (G1815D)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance

<< First< Prev

Page of 2