CN030661[trait identifier] AND "3billion"[submitter] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 280126	NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter)	KMT2D (R5501*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1172600	NM_003482.4(KMT2D):c.16469_16470del (p.Lys5490fs)	KMT2D (K5490fs)	Deletion (frameshift variant)	Kabuki syndrome 1 +1 more	GPathogenic
Select item 981670	NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys)	KMT2D (R5225C)	Single nucleotide variant (missense variant)	Kabuki syndrome +2 more	GPathogenic
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 1320116	NM_003482.4(KMT2D):c.15104G>A (p.Cys5035Tyr)	KMT2D (C5035Y)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GPathogenic
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 1526176	NM_003482.4(KMT2D):c.14502dup (p.Ala4835fs)	KMT2D (A4835fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 1687311	NM_003482.4(KMT2D):c.14382+1G>A	KMT2D	Single nucleotide variant (splice donor variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 1526058	NM_003482.4(KMT2D):c.14075G>T (p.Arg4692Met)	KMT2D (R4692M)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 1526084	NM_003482.4(KMT2D):c.12902_12903insA (p.Leu4302fs)	KMT2D (L4302fs)	Insertion (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 1687318	NM_003482.4(KMT2D):c.12291del (p.Pro4098fs)	KMT2D (P4098fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 1333630	NM_003482.4(KMT2D):c.11731C>T (p.Gln3911Ter)	KMT2D (Q3911*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1 +1 more	GPathogenic
Select item 158715	NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter)	KMT2D (Q3755*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 989256	NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp)	KMT2D (R3582W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 638279	NM_003482.4(KMT2D):c.10624_10625del (p.Leu3542fs)	KMT2D (L3542fs)	Microsatellite (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 1321273	NM_003482.4(KMT2D):c.10151_10171dup (p.Thr3384_Cys3390dup)	KMT2D	Duplication (inframe_insertion)	Kabuki syndrome 1	GUncertain significance
Select item 1320118	NM_003482.4(KMT2D):c.10109del (p.Gln3370fs)	KMT2D (Q3370fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2572479	NM_003482.4(KMT2D):c.10021C>T (p.Gln3341Ter)	KMT2D (Q3341*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic
Select item 1320100	NM_003482.4(KMT2D):c.7407_7408insT (p.Pro2470fs)	KMT2D (P2470fs)	Insertion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2444349	NM_003482.4(KMT2D):c.6805_6811del (p.Ser2269fs)	KMT2D (S2269fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 1320193	NM_003482.4(KMT2D):c.6323dup (p.Gln2109fs)	KMT2D (Q2109fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 1333495	NM_003482.4(KMT2D):c.5060G>A (p.Arg1687His)	KMT2D (R1687H)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GUncertain significance
Select item 1333219	NM_003482.4(KMT2D):c.4987G>T (p.Glu1663Ter)	KMT2D (E1663*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic
Select item 1705542	NM_003482.4(KMT2D):c.4419-2A>C	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 2572540	NM_003482.4(KMT2D):c.4379C>A (p.Pro1460Gln)	KMT2D (P1460Q)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 582622	NM_003482.4(KMT2D):c.3326_3336del (p.Ala1109fs)	KMT2D (A1109fs)	Microsatellite (frameshift variant)	Kabuki syndrome 1 +1 more	GPathogenic
Select item 986158	NM_003482.4(KMT2D):c.1967del (p.Leu656fs)	KMT2D (L656fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1687437	NM_003482.4(KMT2D):c.177-2A>G	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 1676903	NM_003482.4(KMT2D):c.137C>G (p.Ser46Cys)	KMT2D (S46C)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GUncertain significance

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Items: 29