"GeneDx"[submitter] AND "KDM5A"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 59434	GRCh38/hg38 12p13.33(chr12:77187-356623)x1	IQSEC3, IQSEC3-AS1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 58952	GRCh38/hg38 12p13.33(chr12:99592-1786491)x1	LOC130007161, LOC130007162 +80 more	Copy number loss	See cases	GPathogenic
Select item 1704173	NM_001042603.3(KDM5A):c.4975G>A (p.Ala1659Thr)	KDM5A (A1659T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576949	NM_001042603.3(KDM5A):c.4463G>C (p.Ser1488Thr)	KDM5A (S1488T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368463	NM_001042603.3(KDM5A):c.4395dup (p.Trp1466fs)	KDM5A (W1466fs)	Duplication (frameshift variant)	not provided	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 3371088	NM_001042603.3(KDM5A):c.3848T>C (p.Met1283Thr)	KDM5A, LOC126861410 (M1283T)	Single nucleotide variant (missense variant)	not provided	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 2430578	NM_001042603.3(KDM5A):c.3086A>G (p.Lys1029Arg)	KDM5A (K1029R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312071	NM_001042603.3(KDM5A):c.3051_3056del (p.Ala1018_Tyr1019del)	KDM5A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2662148	NM_001042603.3(KDM5A):c.2938del (p.Glu980fs)	KDM5A (E980fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3369243	NM_001042603.3(KDM5A):c.2902del (p.Arg968fs)	KDM5A (R968fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2579993	NM_001042603.3(KDM5A):c.2788del (p.Gly929_Val930insTer)	KDM5A	Deletion (nonsense)	not provided	GUncertain significance
Select item 1255235	NM_001042603.3(KDM5A):c.2594T>C (p.Met865Thr)	KDM5A (M865T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2576872	NM_001042603.3(KDM5A):c.2357A>T (p.Asp786Val)	KDM5A (D786V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662196	NM_001042603.3(KDM5A):c.2206G>A (p.Ala736Thr)	KDM5A (A736T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430581	NM_001042603.3(KDM5A):c.1715C>G (p.Ser572Cys)	KDM5A (S572C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702565	NM_001042603.3(KDM5A):c.1124C>A (p.Ser375Tyr)	KDM5A (S375Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 152635	GRCh38/hg38 12p13.33(chr12:352383-366602)x3	KDM5A	Copy number gain	See cases	GBenign
Select item 1310597	NM_001042603.3(KDM5A):c.953A>G (p.Tyr318Cys)	KDM5A (Y318C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311201	NM_001042603.3(KDM5A):c.583G>A (p.Glu195Lys)	KDM5A (E195K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364979	NM_001042603.3(KDM5A):c.244-2A>C	KDM5A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3364331	NM_001042603.3(KDM5A):c.65T>C (p.Phe22Ser)	KDM5A (F22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253551	GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 27