Related gene-specific medical variations for Gene (Select 51111) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235070	NM_017635.5(KMT5B):c.634dup (p.Ile212fs)	KMT5B (I141fs +3 more)	Duplication (frameshift variant +2 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 3064983	NM_017635.5(KMT5B):c.1615C>T (p.Arg539Trp)	KMT5B (R299W +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2690173	NM_017635.5(KMT5B):c.2021G>A (p.Gly674Asp)	KMT5B (G434D +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2683928	NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)	KMT5B (R155* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 2584616	NM_017635.5(KMT5B):c.1174+1575C>G	KMT5B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2582732	NM_017635.5(KMT5B):c.2435G>C (p.Arg812Pro)	KMT5B (R572P +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2576171	NM_017635.5(KMT5B):c.1712C>G (p.Pro571Arg)	KMT5B (P331R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436525	NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs)	KMT5B (E584fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2436524	NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser)	KMT5B (G434S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2433258	NM_017635.5(KMT5B):c.1618C>T (p.Arg540Trp)	KMT5B (R300W +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1801414	NM_017635.5(KMT5B):c.-76-8323_-76-8288del	KMT5B	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1801371	NM_017635.5(KMT5B):c.972C>G (p.Cys324Trp)	KMT5B (C152W +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 1700105	NM_017635.5(KMT5B):c.1476dup (p.Asp493fs)	KMT5B (D253fs +2 more)	Duplication (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1342624	NM_017635.5(KMT5B):c.1190C>A (p.Ser397Tyr)	KMT5B (S157Y +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1341932	NM_017635.5(KMT5B):c.268G>A (p.Asp90Asn)	KMT5B (D19N +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1341781	NM_017635.5(KMT5B):c.2074G>A (p.Ala692Thr)	KMT5B (A452T +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1098593	NM_017635.5(KMT5B):c.2413C>T (p.Pro805Ser)	KMT5B (P565S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1065196	NM_017635.5(KMT5B):c.609C>A (p.Tyr203Ter)	KMT5B (Y132* +3 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability	GPathogenic
Select item 987391	NM_017635.5(KMT5B):c.358del (p.Ser120fs)	KMT5B (S120fs +1 more)	Deletion (5 prime UTR variant +3 more)	not provided	GLikely pathogenic
Select item 987317	NM_017635.5(KMT5B):c.1843C>T (p.Arg615Ter)	KMT5B (R375* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 986802	NM_017635.5(KMT5B):c.554_557dup (p.Arg187fs)	KMT5B (R116fs +3 more)	Microsatellite (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 932529	NM_017635.5(KMT5B):c.1889C>A (p.Thr630Asn)	KMT5B (T390N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806706	NM_017635.5(KMT5B):c.821-2A>G	KMT5B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 559640	NM_017635.5(KMT5B):c.255del (p.Ser86fs)	KMT5B (S15fs +1 more)	Deletion (5 prime UTR variant +3 more)	Intellectual disability, autosomal dominant 51	GPathogenic

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Items: 24