Related gene-specific medical variations for Gene (Select 5927) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371088	NM_001042603.3(KDM5A):c.3848T>C (p.Met1283Thr)	KDM5A, LOC126861410 (M1283T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348460	NM_001042603.3(KDM5A):c.3971T>G (p.Val1324Gly)	KDM5A, LOC126861410 (V1324G)	Single nucleotide variant (missense variant)	KDM5A-related disorder	GUncertain significance
Select item 3287945	NM_001042603.3(KDM5A):c.4027A>C (p.Thr1343Pro)	KDM5A, LOC126861410 (T1343P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113847	NM_001042603.3(KDM5A):c.3849G>T (p.Met1283Ile)	KDM5A, LOC126861410 (M1283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113846	NM_001042603.3(KDM5A):c.3776G>C (p.Arg1259Thr)	KDM5A, LOC126861410 (R1259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113845	NM_001042603.3(KDM5A):c.3590A>C (p.Gln1197Pro)	KDM5A, LOC126861410 (Q1197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689300	NM_001042603.3(KDM5A):c.791G>A (p.Arg264Gln)	KDM5A (R264Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642562	NM_001042603.3(KDM5A):c.3705G>A (p.Lys1235=)	KDM5A, LOC126861410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2456643	NM_001042603.3(KDM5A):c.3779C>T (p.Ala1260Val)	KDM5A, LOC126861410 (A1260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2413044	NM_001042603.3(KDM5A):c.3768G>A (p.Trp1256Ter)	KDM5A, LOC126861410 (W1256*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2355840	NM_001042603.3(KDM5A):c.3977G>A (p.Ser1326Asn)	KDM5A, LOC126861410 (S1326N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265123	NM_001042603.3(KDM5A):c.3631C>T (p.Leu1211Phe)	KDM5A, LOC126861410 (L1211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226857	NM_001042603.3(KDM5A):c.3893C>T (p.Ala1298Val)	KDM5A, LOC126861410 (A1298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226856	NM_001042603.3(KDM5A):c.3892G>T (p.Ala1298Ser)	KDM5A, LOC126861410 (A1298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1959898	NM_001042603.3(KDM5A):c.4057T>C (p.Tyr1353His)	KDM5A, LOC126861410 (Y1353H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478401	NM_001042603.3(KDM5A):c.3844C>T (p.Arg1282Cys)	KDM5A, LOC126861410 (R1282C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342585	NM_001042603.3(KDM5A):c.3845G>A (p.Arg1282His)	KDM5A, LOC126861410 (R1282H)	Single nucleotide variant (missense variant)	KDM5A-related Neurodevelopmental disorder with autism	GUncertain significance
Select item 1325623	NM_001042603.3(KDM5A):c.308C>G (p.Ser103Cys)	KDM5A (S103C)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1310349	NM_001042603.3(KDM5A):c.4025A>G (p.Glu1342Gly)	KDM5A, LOC126861410 (E1342G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 998056	t(11;12)(p15;p13)	KDM5A, NUP98	Translocation	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 806762	NM_001042603.3(KDM5A):c.4048C>T (p.Arg1350Ter)	KDM5A, LOC126861410 (R1350*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 778567	NM_001042603.3(KDM5A):c.3540C>T (p.Cys1180=)	KDM5A, LOC126861410	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756762	NM_001042603.3(KDM5A):c.3831T>G (p.Ser1277=)	KDM5A, LOC126861410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710018	NM_001042603.3(KDM5A):c.4006A>G (p.Met1336Val)	KDM5A, LOC126861410 (M1336V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 152635	GRCh38/hg38 12p13.33(chr12:352383-366602)x3	KDM5A	Copy number gain	See cases	GBenign
Select item 135627	NM_001042603.3(KDM5A):c.4522C>T (p.Arg1508Trp)	KDM5A (R1508W)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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Links from Gene

Items: 26