"GeneDx"[submitter] AND "LHX2"[gene] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371854	NM_004789.4(LHX2):c.131C>A (p.Ser44Tyr)	LHX2 (S44Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503326	NM_004789.4(LHX2):c.139_149del (p.Ser47fs)	LHX2 (S47fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342326	NM_004789.4(LHX2):c.289_293del (p.Lys96_Asp97insTer)	LHX2	Deletion (nonsense)	not provided	GPathogenic
Select item 3340939	NM_004789.4(LHX2):c.437G>A (p.Cys146Tyr)	LHX2 (C146Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3343018	NM_004789.4(LHX2):c.475A>T (p.Lys159Ter)	LHX2 (K159*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2663352	NM_004789.4(LHX2):c.556dup (p.Val186fs)	LHX2 (V186fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3370018	NM_004789.4(LHX2):c.923G>A (p.Arg308Gln)	LHX2 (R308Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340743	NM_004789.4(LHX2):c.948C>G (p.Asn316Lys)	LHX2 (N316K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3373602	NM_004789.4(LHX2):c.976_1016dup (p.Ala340fs)	LHX2 (A340fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3363673	NM_004789.4(LHX2):c.1109T>C (p.Leu370Ser)	LHX2 (L370S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343455	NM_004789.4(LHX2):c.1150T>A (p.Ser384Thr)	LHX2 (S384T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic