ClinVar for MedGen (Select 1802176) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248619	NM_014727.3(KMT2B):c.5780G>C (p.Arg1927Pro)	KMT2B (R1927P)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68	GBenign
Select item 3238778	NM_014727.3(KMT2B):c.848G>T (p.Gly283Val)	KMT2B (G283V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68	GUncertain significance
Select item 3237502	NM_014727.3(KMT2B):c.3458C>G (p.Ser1153Cys)	KMT2B (S1153C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68	GUncertain significance
Select item 3236568	NM_014727.3(KMT2B):c.6992T>C (p.Val2331Ala)	KMT2B (V2331A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68	GUncertain significance
Select item 2692577	NM_014727.3(KMT2B):c.5111dup (p.Arg1705fs)	KMT2B (R1705fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal dominant 68	GPathogenic
Select item 2672098	NM_014727.3(KMT2B):c.7187C>T (p.Pro2396Leu)	KMT2B (P2396L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68 +1 more	GUncertain significance
Select item 2664431	NM_014727.3(KMT2B):c.7658+1G>T	KMT2B	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, autosomal dominant 68	GUncertain significance
Select item 2582490	NM_014727.3(KMT2B):c.5786C>T (p.Ala1929Val)	KMT2B (A1929V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68	GUncertain significance
Select item 2574120	NM_014727.3(KMT2B):c.3743G>A (p.Arg1248His)	KMT2B (R1248H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68	GUncertain significance
Select item 2572971	NM_014727.3(KMT2B):c.5821G>A (p.Val1941Met)	KMT2B (V1941M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 68	GUncertain significance
Select item 2506464	NM_014727.3(KMT2B):c.4999delinsTC (p.Ala1667fs)	KMT2B (A1667fs)	Indel (frameshift variant)	Intellectual developmental disorder, autosomal dominant 68	GPathogenic
Select item 2499574	NM_014727.3(KMT2B):c.2937del (p.Ser980fs)	KMT2B (S980fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 68	GPathogenic
Select item 817423	NM_014727.3(KMT2B):c.15_24dup (p.Ser9fs)	KMT2B (S9fs)	Duplication (frameshift variant)	Dystonia 28, childhood-onset +2 more	GPathogenic