"GeneDx"[submitter] AND "LOC121587574"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 1800918	NM_001348716.2(KDM6B):c.3937CCT[1] (p.Pro1314del)	KDM6B, LOC121587574 (P1314del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1801129	NM_001348716.2(KDM6B):c.3956A>G (p.Asp1319Gly)	KDM6B, LOC121587574 (D1319G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697084	NM_001348716.2(KDM6B):c.3976A>T (p.Ile1326Phe)	KDM6B, LOC121587574 (I1326F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257148	NM_001348716.2(KDM6B):c.4044G>A (p.Leu1348=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1704432	NM_001348716.2(KDM6B):c.4118T>C (p.Met1373Thr)	KDM6B, LOC121587574 (M1373T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3363366	NM_001348716.2(KDM6B):c.4120A>T (p.Asn1374Tyr)	KDM6B, LOC121587574 (N1374Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444566	NM_001348716.2(KDM6B):c.4188C>A (p.Phe1396Leu)	KDM6B, LOC121587574 (F1396L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801149	NM_001348716.2(KDM6B):c.4190_4192del (p.Cys1397del)	KDM6B, LOC121587574 (C1397del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1193374	NM_001348716.2(KDM6B):c.4196T>A (p.Val1399Asp)	KDM6B, LOC121587574 (V1399D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803341	NM_001348716.2(KDM6B):c.4206C>G (p.Asn1402Lys)	KDM6B, LOC121587574 (N1402K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800868	NM_001348716.2(KDM6B):c.4300A>C (p.Thr1434Pro)	KDM6B, LOC121587574 (T1434P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1302674	NM_001348716.2(KDM6B):c.4448G>A (p.Trp1483Ter)	KDM6B, LOC121587574 (W1483*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3373209	NM_001348716.2(KDM6B):c.4459C>T (p.Pro1487Ser)	KDM6B, LOC121587574 (P1487S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371941	NM_001348716.2(KDM6B):c.4475A>G (p.Gln1492Arg)	KDM6B, LOC121587574 (Q1492R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580503	NM_001348716.2(KDM6B):c.4560C>G (p.Asn1520Lys)	KDM6B, LOC121587574 (N1520K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581751	NM_001348716.2(KDM6B):c.4609A>G (p.Lys1537Glu)	KDM6B, LOC121587574 (K1537E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance