LHX2[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 2486693	NM_004789.4(LHX2):c.61A>G (p.Arg21Gly)	LHX2 (R21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621587	NM_004789.4(LHX2):c.72C>G (p.Ser24Arg)	LHX2 (S24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601407	NM_004789.4(LHX2):c.112A>G (p.Thr38Ala)	LHX2 (T38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118655	NM_004789.4(LHX2):c.133A>G (p.Ile45Val)	LHX2 (I45V)	Single nucleotide variant (missense variant)	not specified	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 2572331	NM_004789.4(LHX2):c.182_187delinsACCT (p.Ser61fs)	LHX2 (S61fs)	Indel (frameshift variant)	Variable neurodevelopmental disorder	GLikely pathogenic
Select item 3056509	NM_004789.4(LHX2):c.291C>T (p.Asp97=)	LHX2	Single nucleotide variant (synonymous variant)	LHX2-related disorder	GLikely benign
Select item 2316294	NM_004789.4(LHX2):c.340C>A (p.Arg114Ser)	LHX2 (R114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043036	NM_004789.4(LHX2):c.351C>T (p.Arg117=)	LHX2	Single nucleotide variant (synonymous variant)	LHX2-related disorder	GLikely benign
Select item 2208127	NM_004789.4(LHX2):c.507C>A (p.Phe169Leu)	LHX2 (F169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2663352	NM_004789.4(LHX2):c.556dup (p.Val186fs)	LHX2 (V186fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2539668	NM_004789.4(LHX2):c.578C>T (p.Ala193Val)	LHX2 (A193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606061	NM_004789.4(LHX2):c.581C>G (p.Ala194Gly)	LHX2 (A194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485031	NM_004789.4(LHX2):c.583G>C (p.Ala195Pro)	LHX2 (A195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046005	NM_004789.4(LHX2):c.649G>A (p.Val217Met)	LHX2 (V217M)	Single nucleotide variant (missense variant)	LHX2-related disorder	GBenign
Select item 3118656	NM_004789.4(LHX2):c.704C>T (p.Ala235Val)	LHX2 (A235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535742	NM_004789.4(LHX2):c.728C>T (p.Ala243Val)	LHX2 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118657	NM_004789.4(LHX2):c.742G>A (p.Glu248Lys)	LHX2 (E248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770200	NM_004789.4(LHX2):c.765C>T (p.Asp255=)	LHX2	Single nucleotide variant (synonymous variant)	LHX2-related disorder +1 more	GBenign
Select item 3042157	NM_004789.4(LHX2):c.776C>A (p.Pro259Gln)	LHX2 (P259Q)	Single nucleotide variant (missense variant)	LHX2-related disorder	GLikely benign
Select item 2659491	NM_004789.4(LHX2):c.1017G>C (p.Ala339=)	LHX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2268334	NM_004789.4(LHX2):c.1049C>T (p.Ala350Val)	LHX2 (A350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230091	NM_004789.4(LHX2):c.1197A>C (p.Gln399His)	LHX2 (Q399H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 50