ClinVar for Gene (Select 64211) - ClinVar

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

Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614214	NM_022363.3(LHX5):c.914A>C (p.Gln305Pro)	LHX5 (Q305P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560211	NM_022363.3(LHX5):c.772A>C (p.Met258Leu)	LHX5 (M258L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526623	NM_022363.3(LHX5):c.821C>G (p.Thr274Ser)	LHX5 (T274S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508064	NM_022363.3(LHX5):c.1090A>G (p.Met364Val)	LHX5 (M364V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389398	NM_022363.3(LHX5):c.625A>G (p.Ile209Val)	LHX5 (I209V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369065	NM_022363.3(LHX5):c.310G>C (p.Glu104Gln)	LHX5 (E104Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358083	NM_022363.3(LHX5):c.143G>A (p.Gly48Asp)	LHX5 (G48D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313989	NM_022363.3(LHX5):c.1067G>A (p.Gly356Asp)	LHX5 (G356D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276798	NM_022363.3(LHX5):c.1087C>A (p.Pro363Thr)	LHX5 (P363T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266143	NM_022363.3(LHX5):c.754T>C (p.Phe252Leu)	LHX5 (F252L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208915	NM_022363.3(LHX5):c.871A>G (p.Ser291Gly)	LHX5 (S291G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1252006	NC_000012.11:g.113120652_115362584del	DDX54, DTX1 +17 more	Deletion	Abnormality of the upper limb +1 more	GPathogenic
Select item 689109	GRCh37/hg19 12q24.13(chr12:113695889-113904780)x1	LHX5, PLBD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 510818	NM_022363.3(LHX5):c.675+4C>A	LHX5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 20