"KDM5A-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 713353	NM_001042603.3(KDM5A):c.4673A>T (p.Glu1558Val)	KDM5A (E1558V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2636550	NM_001042603.3(KDM5A):c.4463G>T (p.Ser1488Ile)	KDM5A (S1488I)	Single nucleotide variant (missense variant)	KDM5A-related condition	GUncertain significance
Select item 3046862	NM_001042603.3(KDM5A):c.4455+6G>T	KDM5A	Single nucleotide variant (intron variant)	KDM5A-related condition	GLikely benign
Select item 776683	NM_001042603.3(KDM5A):c.4336G>C (p.Glu1446Gln)	KDM5A (E1446Q)	Single nucleotide variant (missense variant)	KDM5A-related condition +1 more	GBenign
Select item 742002	NM_001042603.3(KDM5A):c.3311A>G (p.Asp1104Gly)	KDM5A (D1104G)	Single nucleotide variant (missense variant)	KDM5A-related condition +1 more	GBenign
Select item 3041543	NM_001042603.3(KDM5A):c.2423A>T (p.His808Leu)	KDM5A (H808L)	Single nucleotide variant (missense variant)	KDM5A-related condition	GBenign
Select item 2637272	NM_001042603.3(KDM5A):c.2234G>C (p.Arg745Pro)	KDM5A (R745P)	Single nucleotide variant (missense variant)	KDM5A-related condition	GUncertain significance
Select item 3039426	NM_001042603.3(KDM5A):c.2151-4G>T	KDM5A	Single nucleotide variant (intron variant)	KDM5A-related condition	GLikely benign
Select item 3035222	NM_001042603.3(KDM5A):c.2151-17_2151-5dup	KDM5A	Duplication (intron variant)	KDM5A-related condition	GLikely benign
Select item 2630757	NM_001042603.3(KDM5A):c.1840G>A (p.Glu614Lys)	KDM5A (E614K)	Single nucleotide variant (missense variant)	KDM5A-related condition	GUncertain significance
Select item 3037632	NM_001042603.3(KDM5A):c.1136A>G (p.Asn379Ser)	KDM5A (N379S)	Single nucleotide variant (missense variant)	KDM5A-related condition	GLikely benign
Select item 2635432	NM_001042603.3(KDM5A):c.103T>C (p.Phe35Leu)	KDM5A (F35L)	Single nucleotide variant (missense variant)	KDM5A-related condition	GUncertain significance
Select item 3038049	NM_001042603.3(KDM5A):c.99C>T (p.Leu33=)	KDM5A	Single nucleotide variant (synonymous variant)	KDM5A-related condition	GLikely benign