CN030661[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 463012	NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln)	KMT2D (R5351Q)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GPathogenic
Select item 211319	NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter)	KMT2D (R5027*)	Single nucleotide variant (nonsense)	Kabuki syndrome +3 more	GPathogenic
Select item 1804953	NM_003482.4(KMT2D):c.14795C>T (p.Pro4932Leu)	KMT2D (P4932L)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely benign
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 1805616	NM_003482.4(KMT2D):c.14354T>C (p.Met4785Thr)	KMT2D (M4785T)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely benign
Select item 369674	NM_003482.4(KMT2D):c.14075+1G>A	KMT2D	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1806286	NM_003482.4(KMT2D):c.14059C>T (p.Gln4687Ter)	KMT2D (Q4687*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 870384	NM_003482.4(KMT2D):c.12637C>T (p.His4213Tyr)	KMT2D (H4213Y)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 430810	NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)	KMT2D (Q4090*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic/Likely pathogenic
Select item 1435070	NM_003482.4(KMT2D):c.12053C>T (p.Thr4018Ile)	KMT2D (T4018I)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GBenign/Likely benign
Select item 1806283	NM_003482.4(KMT2D):c.11605T>A (p.Ser3869Thr)	KMT2D (S3869T)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 2500793	NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter)	KMT2D (R3707*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 1699283	NM_003482.4(KMT2D):c.10942C>A (p.Pro3648Thr)	KMT2D (P3648T)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 2500777	NM_003482.4(KMT2D):c.10615C>T (p.Arg3539Trp)	KMT2D (R3539W)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 1699304	NM_003482.4(KMT2D):c.10255G>T (p.Asp3419Tyr)	KMT2D (D3419Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2500731	NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter)	KMT2D (Q3400*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 1805917	NM_003482.4(KMT2D):c.9791A>G (p.Gln3264Arg)	KMT2D (Q3264R)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 1805751	NM_003482.4(KMT2D):c.8699C>T (p.Pro2900Leu)	KMT2D (P2900L)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 2500704	NM_003482.4(KMT2D):c.7997_8003dup (p.Met2669fs)	KMT2D (M2669fs)	Microsatellite (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 1804956	NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)	KMT2D (Y2605C)	Single nucleotide variant (missense variant)	Kabuki syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1806049	NM_003482.4(KMT2D):c.7778C>A (p.Pro2593His)	KMT2D (P2593H)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 1805030	NM_003482.4(KMT2D):c.6002G>A (p.Arg2001Gln)	KMT2D (R2001Q)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 1806135	NM_003482.4(KMT2D):c.4877T>C (p.Leu1626Ser)	KMT2D (L1626S)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 194381	NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs)	KMT2D (A1390fs)	Duplication (frameshift variant)	Kabuki syndrome +2 more	GPathogenic
Select item 2500784	NM_003482.4(KMT2D):c.3190del (p.Val1064fs)	KMT2D (V1064fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 1806129	NM_003482.4(KMT2D):c.1248del (p.Lys417fs)	KMT2D (K417fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 1806289	NM_003482.4(KMT2D):c.437C>A (p.Ser146Ter)	KMT2D (S146*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 1805824	NM_003482.4(KMT2D):c.370C>T (p.Leu124Phe)	KMT2D (L124F)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 134601	NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn)	KDM6A (K220N)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +2 more	GUncertain significance

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Items: 29