"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KMT2D"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 710584	NM_003482.4(KMT2D):c.15558C>T (p.His5186=)	KMT2D	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 167218	NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter)	KMT2D (R5086*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 521617	NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln)	KMT2D (R5027Q)	Single nucleotide variant (missense variant)	KMT2D-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 281653	NM_003482.4(KMT2D):c.14984C>G (p.Thr4995Ser)	KMT2D (T4995S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 94176	NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)	KMT2D (R4904*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1597779	NM_003482.4(KMT2D):c.14581G>A (p.Asp4861Asn)	KMT2D (D4861N)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GLikely benign
Select item 1605311	NM_003482.4(KMT2D):c.14574G>A (p.Lys4858=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome 1 +1 more	GLikely benign
Select item 1423016	NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile)	KMT2D (V4642I)	Single nucleotide variant (missense variant)	Kabuki syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1410170	NM_003482.4(KMT2D):c.13645G>A (p.Glu4549Lys)	KMT2D (E4549K)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 94165	NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)	KMT2D (P4349A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 94162	NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile)	KMT2D (V4305I)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 94161	NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=)	KMT2D	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 158722	NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter)	KMT2D (R4198*)	Single nucleotide variant (nonsense)	Kabuki syndrome +3 more	GPathogenic
Select item 94155	NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val)	KMT2D (M4058V)	Single nucleotide variant (missense variant)	Kabuki syndrome +3 more	GConflicting classifications of pathogenicity
Select item 596122	NM_003482.4(KMT2D):c.11702AGC[6] (p.Gln3905dup)	KMT2D	Microsatellite (inframe_insertion)	Kabuki syndrome +2 more	GUncertain significance
Select item 1436484	NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser)	KMT2D (L3897S)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 499553	NM_003482.4(KMT2D):c.11202GCA[5] (p.Gln3744_Gln3745del)	KMT2D	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 94147	NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro)	KMT2D (Q3717P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1100304	NM_003482.4(KMT2D):c.10423G>A (p.Ala3475Thr)	KMT2D (A3475T)	Single nucleotide variant (missense variant)	Kabuki syndrome +2 more	GLikely benign
Select item 94135	NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)	KMT2D (M3398V)	Single nucleotide variant (missense variant)	Kabuki syndrome +3 more	GBenign/Likely benign
Select item 596725	NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val)	KMT2D (M3389V)	Single nucleotide variant (missense variant)	Kabuki syndrome +2 more	GConflicting classifications of pathogenicity
Select item 196892	NM_003482.4(KMT2D):c.9212G>A (p.Arg3071Lys)	KMT2D (R3071K)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +2 more	GUncertain significance
Select item 561047	NM_003482.4(KMT2D):c.8506C>T (p.Arg2836Cys)	KMT2D (R2836C)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GUncertain significance
Select item 547455	NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val)	KMT2D (A2802V)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 716432	NM_003482.4(KMT2D):c.8149C>T (p.Pro2717Ser)	KMT2D (P2717S)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GBenign/Likely benign
Select item 94258	NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser)	KMT2D (P2717S)	Indel (missense variant)	Kabuki syndrome +3 more	GBenign/Likely benign
Select item 716433	NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome 1 +1 more	GBenign/Likely benign
Select item 499552	NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met)	KMT2D (T2524M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1447900	NM_003482.4(KMT2D):c.7526A>G (p.Lys2509Arg)	KMT2D (K2509R)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 158783	NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome +3 more	GBenign/Likely benign
Select item 167224	NM_003482.4(KMT2D):c.7109G>A (p.Arg2370His)	KMT2D (R2370H)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 134695	NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu)	KMT2D (G2279E)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +3 more	GBenign/Likely benign
Select item 531879	NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu)	KMT2D (S2173L)	Single nucleotide variant (missense variant)	KMT2D-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 134693	NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His)	KMT2D (R2095H)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 196174	NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome 1 +3 more	GBenign/Likely benign
Select item 500446	NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val)	KMT2D (I2026V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 309055	NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=)	KMT2D	Single nucleotide variant (synonymous variant)	Kabuki syndrome 1 +3 more	GBenign/Likely benign
Select item 1405177	NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln)	KMT2D, LOC126861520 (R1291Q)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 134673	NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)	KMT2D, LOC126861520 (P1191L)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +3 more	GBenign/Likely benign
Select item 1390392	NM_003482.4(KMT2D):c.3237_3238delinsCC (p.Glu1080Gln)	KMT2D (E1080Q)	Indel (missense variant)	Kabuki syndrome 1 +1 more	GUncertain significance
Select item 805014	NM_003482.4(KMT2D):c.3238G>C (p.Glu1080Gln)	KMT2D (E1080Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 134669	NM_003482.4(KMT2D):c.2656C>G (p.Pro886Ala)	KMT2D (P886A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193657	NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser)	KMT2D (P790S)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 134664	NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr)	KMT2D (P692T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 158747	NM_003482.4(KMT2D):c.1938C>G (p.Pro646=)	KMT2D	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 702594	NM_003482.4(KMT2D):c.1365A>G (p.Glu455=)	KMT2D	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1420905	NM_003482.4(KMT2D):c.1306GAG[1] (p.Glu437del)	KMT2D (E437del)	Microsatellite (inframe_deletion)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 94149	NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr)	KMT2D (P374T)	Single nucleotide variant (missense variant)	Kabuki syndrome +3 more	GBenign/Likely benign
Select item 502301	NM_003482.4(KMT2D):c.376C>G (p.Pro126Ala)	KMT2D (P126A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1057132	NM_003482.4(KMT2D):c.251G>A (p.Arg84His)	KMT2D (R84H)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GConflicting classifications of pathogenicity

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Items: 50