"PreventionGenetics, part of Exact Sciences"[submitter] AND "KAT2B"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044350	NM_003884.5(KAT2B):c.39_158del (p.Ala14_Gly53del)	KAT2B	Deletion (inframe deletion)	KAT2B-related disorder	GLikely benign
Select item 2347855	NM_003884.5(KAT2B):c.80C>G (p.Pro27Arg)	KAT2B (P27R)	Single nucleotide variant (missense variant)	KAT2B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2378894	NM_003884.5(KAT2B):c.104C>T (p.Ala35Val)	KAT2B (A35V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3030689	NM_003884.5(KAT2B):c.139G>C (p.Gly47Arg)	KAT2B (G47R)	Single nucleotide variant (missense variant)	KAT2B-related disorder	GUncertain significance
Select item 3035151	NM_003884.5(KAT2B):c.185G>A (p.Gly62Asp)	KAT2B (G62D)	Single nucleotide variant (missense variant)	KAT2B-related disorder	GLikely benign
Select item 3053952	NM_003884.5(KAT2B):c.327T>C (p.Asn109=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 3042621	NM_003884.5(KAT2B):c.363C>A (p.Pro121=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 3030965	NM_003884.5(KAT2B):c.432T>C (p.Ala144=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 3046932	NM_003884.5(KAT2B):c.852-5C>T	KAT2B	Single nucleotide variant (intron variant)	KAT2B-related disorder	GLikely benign
Select item 3031453	NM_003884.5(KAT2B):c.1397C>T (p.Ala466Val)	KAT2B (A466V)	Single nucleotide variant (missense variant)	KAT2B-related disorder	GUncertain significance
Select item 3055632	NM_003884.5(KAT2B):c.1431A>C (p.Ala477=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 3045525	NM_003884.5(KAT2B):c.1797G>A (p.Lys599=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 3037788	NM_003884.5(KAT2B):c.1957C>T (p.Arg653Trp)	KAT2B (R653W)	Single nucleotide variant (missense variant)	KAT2B-related disorder	GBenign
Select item 3058809	NM_003884.5(KAT2B):c.2082A>C (p.Gly694=)	KAT2B	Single nucleotide variant (synonymous variant)	KAT2B-related disorder	GLikely benign
Select item 782807	NM_003884.5(KAT2B):c.2137C>A (p.Pro713Thr)	KAT2B (P713T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2633692	NM_003884.5(KAT2B):c.2290A>G (p.Ile764Val)	KAT2B (I764V)	Single nucleotide variant (missense variant)	KAT2B-related disorder	GUncertain significance
Select item 3034031	NM_003884.5(KAT2B):c.2306-10dup	KAT2B	Duplication (intron variant)	KAT2B-related disorder	GBenign
Select item 2653625	NM_003884.5(KAT2B):c.2430C>T (p.Tyr810=)	KAT2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign