ClinVar for Gene (Select 58508) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366566	NC_000007.13:g.(?_151832009)_(151853432_151855947)dup	KMT2C	Duplication	not specified	GUncertain significance
Select item 3366546	NM_170606.3(KMT2C):c.14423A>C (p.Glu4808Ala)	KMT2C (E4808A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366433	NM_170606.3(KMT2C):c.6391T>A (p.Tyr2131Asn)	KMT2C (Y2131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365968	NM_170606.3(KMT2C):c.9343A>C (p.Asn3115His)	KMT2C (N3115H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365844	NM_170606.3(KMT2C):c.2807A>G (p.Glu936Gly)	KMT2C (E936G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365445	NM_170606.3(KMT2C):c.13902G>T (p.Trp4634Cys)	KMT2C (W4634C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365331	NM_170606.3(KMT2C):c.9977C>T (p.Pro3326Leu)	KMT2C (P3326L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365317	NM_170606.3(KMT2C):c.2765C>T (p.Pro922Leu)	KMT2C (P922L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365305	NM_170606.3(KMT2C):c.3725T>G (p.Met1242Arg)	KMT2C (M1242R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365167	NM_170606.3(KMT2C):c.11537C>G (p.Thr3846Ser)	KMT2C, LOC129999675 (T3846S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365037	NM_170606.3(KMT2C):c.4744G>C (p.Gly1582Arg)	KMT2C (G1582R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364706	NM_170606.3(KMT2C):c.8161_8166del (p.2719NL[1])	KMT2C	Deletion	not provided	GUncertain significance
Select item 3364659	NM_170606.3(KMT2C):c.11893G>T (p.Gly3965Cys)	KMT2C (G3965C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364506	NM_170606.3(KMT2C):c.12442C>T (p.Pro4148Ser)	KMT2C (P4148S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363983	NM_170606.3(KMT2C):c.11396G>T (p.Cys3799Phe)	KMT2C (C3799F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363945	NM_170606.3(KMT2C):c.7364A>G (p.Tyr2455Cys)	KMT2C (Y2455C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363886	NM_170606.3(KMT2C):c.12376T>G (p.Leu4126Val)	KMT2C (L4126V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362170	NM_170606.3(KMT2C):c.14612G>A (p.Ser4871Asn)	KMT2C (S4871N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362057	NM_170606.3(KMT2C):c.5499G>C (p.Gln1833His)	KMT2C (Q1833H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362030	NM_170606.3(KMT2C):c.3611T>G (p.Leu1204Trp)	KMT2C (L1204W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361628	NM_170606.3(KMT2C):c.4303T>C (p.Ser1435Pro)	KMT2C (S1435P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361591	NM_170606.3(KMT2C):c.8445dup (p.Ser2816fs)	KMT2C (S2816fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3361498	NM_170606.3(KMT2C):c.14657A>G (p.Tyr4886Cys)	KMT2C (Y4886C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361457	NM_170606.3(KMT2C):c.10265A>G (p.Gln3422Arg)	KMT2C (Q3422R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360769	NM_170606.3(KMT2C):c.4610C>T (p.Pro1537Leu)	KMT2C (P1537L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360646	NM_170606.3(KMT2C):c.2171A>C (p.Lys724Thr)	KMT2C (K724T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360248	NM_170606.3(KMT2C):c.3689A>T (p.Asp1230Val)	KMT2C (D1230V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360118	NM_170606.3(KMT2C):c.3805_3806delinsCA (p.Gly1269His)	KMT2C (G1269H)	Indel (missense variant)	not provided	GUncertain significance
Select item 3359503	NM_170606.3(KMT2C):c.3726G>A (p.Met1242Ile)	KMT2C (M1242I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358095	NM_170606.3(KMT2C):c.7375C>A (p.Pro2459Thr)	KMT2C (P2459T)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3357063	NM_170606.3(KMT2C):c.7544G>A (p.Arg2515Lys)	KMT2C (R2515K)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3356540	NM_170606.3(KMT2C):c.6140_6144del (p.Met2047fs)	KMT2C (M2047fs)	Deletion (frameshift variant)	KMT2C-related disorder	GUncertain significance
Select item 3354706	NM_170606.3(KMT2C):c.11224A>G (p.Ser3742Gly)	KMT2C (S3742G)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3353715	NM_170606.3(KMT2C):c.10112C>T (p.Ser3371Leu)	KMT2C (S3371L)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3350695	NM_170606.3(KMT2C):c.7986G>T (p.Leu2662Phe)	KMT2C (L2662F)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3349046	NM_170606.3(KMT2C):c.10449dup (p.Gln3484fs)	KMT2C (Q3484fs)	Duplication (frameshift variant)	KMT2C-related disorder	GLikely pathogenic
Select item 3348216	NM_170606.3(KMT2C):c.12091C>G (p.Pro4031Ala)	KMT2C (P4031A)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3347298	NM_170606.3(KMT2C):c.10940_10941delinsTA (p.Ser3647Ile)	KMT2C (S3647I)	Indel (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3344847	NM_170606.3(KMT2C):c.11875G>C (p.Ala3959Pro)	KMT2C (A3959P)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3344044	NM_170606.3(KMT2C):c.4686G>A (p.Met1562Ile)	KMT2C (M1562I)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 3343224	NM_170606.3(KMT2C):c.3728A>T (p.Asp1243Val)	KMT2C (D1243V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341896	NM_170606.3(KMT2C):c.3685A>G (p.Arg1229Gly)	KMT2C (R1229G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341800	NM_170606.3(KMT2C):c.2847C>T (p.Ser949=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341783	NM_170606.3(KMT2C):c.10996C>G (p.Pro3666Ala)	KMT2C (P3666A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3341766	NM_170606.3(KMT2C):c.2721A>C (p.Arg907=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341675	NM_170606.3(KMT2C):c.2328A>T (p.Ile776=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341163	NM_170606.3(KMT2C):c.3340T>C (p.Cys1114Arg)	KMT2C (C1114R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3339568	NM_170606.3(KMT2C):c.7504C>G (p.Pro2502Ala)	KMT2C (P2502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337770	NM_170606.3(KMT2C):c.10918_10921dup (p.Thr3641fs)	KMT2C (T3641fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3336443	NM_170606.3(KMT2C):c.9263-6T>A	KMT2C	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3336329	NM_170606.3(KMT2C):c.11807A>G (p.His3936Arg)	KMT2C (H3936R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336307	NM_170606.3(KMT2C):c.6865C>T (p.Arg2289Cys)	KMT2C (R2289C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289162	NM_170606.3(KMT2C):c.1945G>T (p.Val649Leu)	KMT2C (V649L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289161	NM_170606.3(KMT2C):c.11632A>G (p.Met3878Val)	KMT2C (M3878V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289160	NM_170606.3(KMT2C):c.10190A>C (p.Glu3397Ala)	KMT2C (E3397A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289159	NM_170606.3(KMT2C):c.892T>C (p.Cys298Arg)	KMT2C (C298R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289158	NM_170606.3(KMT2C):c.11839T>G (p.Phe3947Val)	KMT2C (F3947V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289157	NM_170606.3(KMT2C):c.9342C>G (p.Asn3114Lys)	KMT2C (N3114K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289156	NM_170606.3(KMT2C):c.8467A>G (p.Lys2823Glu)	KMT2C (K2823E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289155	NM_170606.3(KMT2C):c.9040G>C (p.Gly3014Arg)	KMT2C (G3014R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289154	NM_170606.3(KMT2C):c.1912T>G (p.Cys638Gly)	KMT2C (C638G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289153	NM_170606.3(KMT2C):c.10531G>T (p.Gly3511Cys)	KMT2C (G3511C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289151	NM_170606.3(KMT2C):c.3320A>G (p.Asp1107Gly)	KMT2C (D1107G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3289150	NM_170606.3(KMT2C):c.9086A>G (p.Gln3029Arg)	KMT2C (Q3029R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289149	NM_170606.3(KMT2C):c.1928T>C (p.Ile643Thr)	KMT2C (I643T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289148	NM_170606.3(KMT2C):c.3940C>T (p.Gln1314Ter)	KMT2C (Q1314*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3289147	NM_170606.3(KMT2C):c.12922G>A (p.Ala4308Thr)	KMT2C (A4308T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289146	NM_170606.3(KMT2C):c.11348A>C (p.Asn3783Thr)	KMT2C (N3783T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289145	NM_170606.3(KMT2C):c.1957A>G (p.Ile653Val)	KMT2C (I653V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289143	NM_170606.3(KMT2C):c.2705C>T (p.Ser902Leu)	KMT2C (S902L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289142	NM_170606.3(KMT2C):c.3942G>T (p.Gln1314His)	KMT2C (Q1314H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289141	NM_170606.3(KMT2C):c.6958C>G (p.His2320Asp)	KMT2C (H2320D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289140	NM_170606.3(KMT2C):c.5581C>T (p.Arg1861Trp)	KMT2C (R1861W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3258104	NM_170606.3(KMT2C):c.11671-1G>A	KMT2C	Single nucleotide variant (splice acceptor variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3257920	NM_170606.3(KMT2C):c.5386C>T (p.Gln1796Ter)	KMT2C (Q1796*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257918	NM_170606.3(KMT2C):c.5422_5423del (p.Pro1809fs)	KMT2C (P1809fs)	Microsatellite (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3257917	NM_170606.3(KMT2C):c.6087del (p.Leu2030fs)	KMT2C (L2030fs)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3257916	NM_170606.3(KMT2C):c.9239C>G (p.Ser3080Ter)	KMT2C (S3080*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257217	NM_170606.3(KMT2C):c.5154G>A (p.Arg1718=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257164	NM_170606.3(KMT2C):c.2176C>A (p.Gln726Lys)	KMT2C (Q726K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3257047	NM_170606.3(KMT2C):c.14529C>T (p.Pro4843=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257001	NM_170606.3(KMT2C):c.11029T>C (p.Cys3677Arg)	KMT2C (C3677R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3255016	NM_170606.3(KMT2C):c.6236C>T (p.Pro2079Leu)	KMT2C (P2079L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3254801	NM_170606.3(KMT2C):c.2525C>T (p.Ser842Phe)	KMT2C (S842F)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3253311	NM_170606.3(KMT2C):c.595C>T (p.Arg199Ter)	KMT2C (R199*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3253214	NM_170606.3(KMT2C):c.6614A>G (p.His2205Arg)	KMT2C (H2205R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252845	NM_170606.3(KMT2C):c.11071C>A (p.Gln3691Lys)	KMT2C (Q3691K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252756	NM_170606.3(KMT2C):c.5690C>T (p.Pro1897Leu)	KMT2C (P1897L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252714	NM_170606.3(KMT2C):c.6744_6755del (p.Asp2248_Gln2252delinsGlu)	KMT2C	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 3252519	NM_170606.3(KMT2C):c.6950A>C (p.Gln2317Pro)	KMT2C (Q2317P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252395	NM_170606.3(KMT2C):c.14279C>T (p.Ser4760Leu)	KMT2C (S4760L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252206	NM_170606.3(KMT2C):c.856G>A (p.Ala286Thr)	KMT2C (A286T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251778	NM_170606.3(KMT2C):c.1621+7T>C	KMT2C	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3251469	NM_170606.3(KMT2C):c.8919G>T (p.Val2973=)	KMT2C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3251381	NM_170606.3(KMT2C):c.4112A>G (p.Asp1371Gly)	KMT2C (D1371G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251282	NM_170606.3(KMT2C):c.11171_11174delinsTGAG (p.Glu3724_Thr3725delinsValArg)	KMT2C	Indel (missense variant)	not specified	GUncertain significance
Select item 3250962	NM_170606.3(KMT2C):c.6996G>C (p.Gly2332=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250921	NM_170606.3(KMT2C):c.456A>G (p.Gln152=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250710	NM_170606.3(KMT2C):c.9358C>G (p.Pro3120Ala)	KMT2C (P3120A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3245942	NC_000007.13:g.(?_151833917)_(151902330_?)dup	KMT2C	Duplication	not provided	GLikely benign

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