"PreventionGenetics, part of Exact Sciences"[submitter] AND "KMT5B"[ge - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 789490	NM_017635.5(KMT5B):c.2523TGA[2] (p.Asp844del)	KMT5B (D672del +2 more)	Microsatellite (inframe_deletion)	KMT5B-related disorder +1 more	GBenign
Select item 3029732	NM_017635.5(KMT5B):c.2515G>A (p.Asp839Asn)	KMT5B (D599N +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GUncertain significance
Select item 2633735	NM_017635.5(KMT5B):c.2383C>A (p.Leu795Ile)	KMT5B (L555I +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GUncertain significance
Select item 1176575	NM_017635.5(KMT5B):c.2267A>G (p.Asn756Ser)	KMT5B (N516S +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder +2 more	GBenign/Likely benign
Select item 3055931	NM_017635.5(KMT5B):c.2259C>T (p.Asn753=)	KMT5B	Single nucleotide variant (synonymous variant)	KMT5B-related disorder	GLikely benign
Select item 771446	NM_017635.5(KMT5B):c.2037A>G (p.Thr679=)	KMT5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2498521	NM_017635.5(KMT5B):c.1843C>A (p.Arg615=)	KMT5B	Single nucleotide variant (synonymous variant)	KMT5B-related disorder +1 more	GBenign/Likely benign
Select item 2357621	NM_017635.5(KMT5B):c.1786C>G (p.Gln596Glu)	KMT5B (Q356E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2630141	NM_017635.5(KMT5B):c.1774C>T (p.His592Tyr)	KMT5B (H352Y +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GUncertain significance
Select item 2642034	NM_017635.5(KMT5B):c.1720G>A (p.Asp574Asn)	KMT5B (D334N +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder +1 more	GBenign/Likely benign
Select item 2336623	NM_017635.5(KMT5B):c.1706C>T (p.Thr569Met)	KMT5B (T329M +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder +2 more	GLikely benign
Select item 3043267	NM_017635.5(KMT5B):c.1595C>T (p.Ser532Leu)	KMT5B (S292L +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GLikely benign
Select item 3054411	NM_017635.5(KMT5B):c.1507G>A (p.Ala503Thr)	KMT5B (A263T +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GLikely benign
Select item 2642036	NM_017635.5(KMT5B):c.1298A>G (p.Asn433Ser)	KMT5B (N193S +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder +1 more	GBenign/Likely benign
Select item 2630106	NM_017635.5(KMT5B):c.1182C>G (p.Asn394Lys)	KMT5B (N154K +2 more)	Single nucleotide variant (missense variant)	KMT5B-related disorder	GUncertain significance
Select item 3061341	NM_017635.5(KMT5B):c.1032_1033insC (p.Ile345fs)	KMT5B (I105fs +4 more)	Insertion (frameshift variant +1 more)	KMT5B-related disorder	GLikely pathogenic
Select item 3046409	NM_017635.5(KMT5B):c.979C>T (p.Arg327Trp)	KMT5B (R155W +4 more)	Single nucleotide variant (missense variant +1 more)	KMT5B-related disorder	GUncertain significance
Select item 778540	NM_017635.5(KMT5B):c.559C>A (p.Arg187=)	KMT5B	Single nucleotide variant (synonymous variant +2 more)	KMT5B-related disorder +1 more	GBenign
Select item 754457	NM_017635.5(KMT5B):c.384G>A (p.Arg128=)	KMT5B	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3034230	NM_017635.5(KMT5B):c.377+4G>A	KMT5B	Single nucleotide variant (5 prime UTR variant +1 more)	KMT5B-related disorder	GLikely benign
Select item 3030534	NM_017635.5(KMT5B):c.346T>C (p.Ser116Pro)	KMT5B (S116P +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	KMT5B-related disorder	GLikely benign
Select item 3026001	NM_017635.5(KMT5B):c.136G>A (p.Ala46Thr)	KMT5B (A46T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GLikely benign
Select item 2633693	NM_017635.5(KMT5B):c.95T>G (p.Leu32Ter)	KMT5B (L32*)	Single nucleotide variant (5 prime UTR variant +3 more)	KMT5B-related disorder +1 more	GConflicting classifications of pathogenicity

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Items: 23