14216[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 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 3118672	NM_022363.3(LHX5):c.1150G>A (p.Gly384Ser)	LHX5 (G384S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118670	NM_022363.3(LHX5):c.1099G>A (p.Glu367Lys)	LHX5 (E367K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508064	NM_022363.3(LHX5):c.1090A>G (p.Met364Val)	LHX5 (M364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276798	NM_022363.3(LHX5):c.1087C>A (p.Pro363Thr)	LHX5 (P363T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118669	NM_022363.3(LHX5):c.1073C>A (p.Pro358Gln)	LHX5 (P358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313989	NM_022363.3(LHX5):c.1067G>A (p.Gly356Asp)	LHX5 (G356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614214	NM_022363.3(LHX5):c.914A>C (p.Gln305Pro)	LHX5 (Q305P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118676	NM_022363.3(LHX5):c.895G>C (p.Gly299Arg)	LHX5 (G299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208915	NM_022363.3(LHX5):c.871A>G (p.Ser291Gly)	LHX5 (S291G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526623	NM_022363.3(LHX5):c.821C>G (p.Thr274Ser)	LHX5 (T274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560211	NM_022363.3(LHX5):c.772A>C (p.Met258Leu)	LHX5 (M258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266143	NM_022363.3(LHX5):c.754T>C (p.Phe252Leu)	LHX5 (F252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118674	NM_022363.3(LHX5):c.748G>C (p.Ala250Pro)	LHX5 (A250P)	Single nucleotide variant (missense variant)	not specified	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 2389398	NM_022363.3(LHX5):c.625A>G (p.Ile209Val)	LHX5 (I209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369065	NM_022363.3(LHX5):c.310G>C (p.Glu104Gln)	LHX5 (E104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118673	NM_022363.3(LHX5):c.233G>T (p.Arg78Leu)	LHX5 (R78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358083	NM_022363.3(LHX5):c.143G>A (p.Gly48Asp)	LHX5 (G48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118671	NM_022363.3(LHX5):c.113A>G (p.Asn38Ser)	LHX5 (N38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	CFAP73, DDX54 +17 more	Deletion	Radial dysplasia +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 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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

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Items: 27