LHX1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 more	Copy number loss	See cases	GPathogenic
Select item 58167	GRCh37/hg19 17q12(chr17:34360168-36209228)x3	AATF, ACACA +44 more	Copy number gain	See cases	GPathogenic
Select item 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	AATF, ACACA +38 more	Copy number loss	See cases	GPathogenic
Select item 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 155596	GRCh37/hg19 17q12(chr17:34822465-36283612)x3	AATF, ACACA +29 more	Copy number gain	See cases	GLikely pathogenic
Select item 154005	GRCh37/hg19 17q12(chr17:34822465-36283807)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 153885	GRCh37/hg19 17q12(chr17:34822466-36316161)x1	AATF, ACACA +30 more	Copy number loss	See cases	GPathogenic
Select item 153855	GRCh37/hg19 17q12(chr17:34822466-36283612)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 153818	GRCh37/hg19 17q12(chr17:34822465-36350005)x3	AATF, ACACA +31 more	Copy number gain	See cases	GLikely pathogenic
Select item 153746	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +30 more	Copy number loss	See cases	GPathogenic
Select item 153717	GRCh37/hg19 17q12(chr17:34822466-36393628)x1	AATF, ACACA +31 more	Copy number loss	See cases	GPathogenic
Select item 152579	GRCh37/hg19 17q12(chr17:34856055-36248859)x3	AATF, ACACA +29 more	Copy number gain	See cases	GPathogenic
Select item 148852	GRCh37/hg19 17q12(chr17:34817422-36188700)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 60477	GRCh37/hg19 17q12(chr17:34899836-36224189)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 60474	GRCh37/hg19 17q12(chr17:34851537-36173763)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 60472	GRCh37/hg19 17q12(chr17:34817422-36168104)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 58169	GRCh37/hg19 17q12(chr17:34817422-36173763)x3	AATF, ACACA +28 more	Copy number gain	See cases	GPathogenic
Select item 58168	GRCh37/hg19 17q12(chr17:34815184-36209228)x3	AATF, ACACA +29 more	Copy number gain	See cases	GPathogenic
Select item 57515	GRCh37/hg19 17q12(chr17:34899836-36177728)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 144685	GRCh37/hg19 17q12(chr17:35076189-36248926)x1	AATF, ACACA +25 more	Copy number loss	See cases	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 545221	Single allele	AATF, ACACA +37 more	Duplication	Autism	GLikely pathogenic
Select item 545220	NC_000017.11:g.(?_36357256)_(37995300_?)del	AATF, ACACA +37 more	Deletion	Schizophrenia	GPathogenic
Select item 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 160879	GRCh38/hg38 17q12(chr17:36357258-37889296)x3	AATF, ACACA +35 more	Copy number gain	See cases	GPathogenic
Select item 149866	GRCh38/hg38 17q12(chr17:36357258-38225796)x3	AATF, ACACA +41 more	Copy number gain	See cases	GLikely pathogenic
Select item 57382	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 60471	GRCh38/hg38 17q12(chr17:36422657-37890225)x1	AATF, ACACA +34 more	Copy number loss	See cases	GPathogenic
Select item 545222	NC_000017.11:g.(?_36446252)_(37887875_?)del	AATF, ACACA +33 more	Deletion	Autism	GPathogenic
Select item 148853	GRCh38/hg38 17q12(chr17:36446545-38225796)x1	AATF, ACACA +39 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 149614	GRCh38/hg38 17q12(chr17:36461608-37889296)x3	AATF, ACACA +33 more	Copy number gain	See cases	GLikely pathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2579204	GRCh38/hg38 17q12(chr17:36486532-37745203)x1	AATF, ACACA +32 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 60473	GRCh38/hg38 17q12(chr17:36493974-37890225)x1	AATF, ACACA +33 more	Copy number loss	See cases	GPathogenic
Select item 160874	GRCh38/hg38 17q12(chr17:36500215-37889296)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 32491	GRCh38/hg38 17q12(chr17:36500215-37889296)x3	ACACA, C17orf78 +32 more	Copy number gain	See cases	GPathogenic
Select item 149644	GRCh38/hg38 17q12(chr17:36500465-37889304)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 153059	GRCh38/hg38 17q12(chr17:36566143-37808105)x3	AATF, ACACA +29 more	Copy number gain	See cases	GUncertain significance
Select item 1338823	GRCh38/hg38 17q12(chr17:36719878-37889304)	AATF, ACACA +25 more	Copy number loss	Diaphragmatic eventration	GUncertain significance
Select item 2553507	NM_005568.5(LHX1):c.97G>C (p.Glu33Gln)	LHX1 (E33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057142	NM_005568.5(LHX1):c.169C>A (p.Arg57=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GBenign
Select item 3044599	NM_005568.5(LHX1):c.171-5del	LHX1	Deletion (intron variant)	LHX1-related disorder	GLikely benign
Select item 2596272	NM_005568.5(LHX1):c.171G>A (p.Arg57=)	LHX1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3290612	NM_005568.5(LHX1):c.241A>G (p.Ser81Gly)	LHX1 (S81G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606361	NM_005568.5(LHX1):c.392A>C (p.His131Pro)	LHX1 (H131P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038454	NM_005568.5(LHX1):c.405G>A (p.Thr135=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GBenign
Select item 3038676	NM_005568.5(LHX1):c.416C>A (p.Pro139His)	LHX1 (P139H)	Single nucleotide variant (missense variant)	LHX1-related disorder	GBenign
Select item 2320482	NM_005568.5(LHX1):c.520C>A (p.Gln174Lys)	LHX1 (Q174K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290939	NM_005568.5(LHX1):c.524A>G (p.Asn175Ser)	LHX1 (N175S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118652	NM_005568.5(LHX1):c.532G>A (p.Ala178Thr)	LHX1 (A178T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045827	NM_005568.5(LHX1):c.621C>T (p.Arg207=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GLikely benign
Select item 3118653	NM_005568.5(LHX1):c.875A>G (p.Asn292Ser)	LHX1 (N292S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494579	NM_005568.5(LHX1):c.902C>A (p.Pro301Gln)	LHX1 (P301Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454796	NM_005568.5(LHX1):c.920C>T (p.Thr307Ile)	LHX1 (T307I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412050	NM_005568.5(LHX1):c.949T>A (p.Ser317Thr)	LHX1 (S317T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118654	NM_005568.5(LHX1):c.968C>T (p.Pro323Leu)	LHX1 (P323L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290613	NM_005568.5(LHX1):c.1003C>A (p.His335Asn)	LHX1 (H335N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118650	NM_005568.5(LHX1):c.1019C>T (p.Ala340Val)	LHX1 (A340V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056351	NM_005568.5(LHX1):c.1020G>A (p.Ala340=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GLikely benign
Select item 3118651	NM_005568.5(LHX1):c.1051C>G (p.Pro351Ala)	LHX1 (P351A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364353	NM_005568.5(LHX1):c.1097A>G (p.His366Arg)	LHX1 (H366R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039491	NM_005568.5(LHX1):c.1098C>T (p.His366=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GBenign
Select item 2463225	NM_005568.5(LHX1):c.1111G>A (p.Glu371Lys)	LHX1 (E371K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647692	NM_005568.5(LHX1):c.1149G>A (p.Ser383=)	LHX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3055916	NM_005568.5(LHX1):c.1162G>T (p.Ala388Ser)	LHX1 (A388S)	Single nucleotide variant (missense variant)	LHX1-related disorder	GLikely benign
Select item 3046967	NM_005568.5(LHX1):c.1188C>T (p.His396=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GLikely benign
Select item 3039185	NM_005568.5(LHX1):c.1215G>A (p.Val405=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GLikely benign
Select item 3338433	GRCh37/hg19 17q12(chr17:34842442-36065085)x3	AATF, ACACA +13 more	Copy number gain	Hyperphosphatasia with intellectual disability syndrome 5	GLikely pathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3148907	GRCh37/hg19 17q12(chr17:34822466-36378678)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 3148903	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 3063508	GRCh37/hg19 17q12(chr17:35010975-35932571)x3	AATF, ACACA +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063498	GRCh37/hg19 17q12(chr17:34425362-36371146)x3	AATF, ACACA +23 more	Copy number gain	not specified	GPathogenic
Select item 2684846	GRCh37/hg19 17q12(chr17:34440083-36410559)x3	AATF, ACACA +22 more	Copy number gain	not provided	GPathogenic
Select item 2671580	Single allele	AATF, ACACA +13 more	Deletion	not provided	GPathogenic
Select item 2580315	GRCh37/hg19 17q12(chr17:34752221-36105007)x3	AATF, ACACA +14 more	Copy number gain	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2506537	GRCh37/hg19 17q12(chr17:34842545-36293050)	AATF, ACACA +14 more	Copy number loss	HNF1B-related disorder	GPathogenic
Select item 2445208	Single allele	AATF, ACACA +13 more	Deletion	See cases	GLikely pathogenic
Select item 2423122	NC_000017.10:g.(?_34892951)_(36104875_?)dup	AATF, ACACA +11 more	Duplication	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1808648	GRCh37/hg19 17q12(chr17:34822466-36404136)x1	AATF, ACACA +15 more	Copy number loss	not provided	GPathogenic
Select item 1807768	GRCh37/hg19 17q12(chr17:34425363-36404555)x3	AATF, ACACA +23 more	Copy number gain	not provided	GPathogenic
Select item 1711449	GRCh37/hg19 17q12(chr17:34842544-36104875)x3	AATF, ACACA +13 more	Copy number gain	not provided	GPathogenic
Select item 1708189	GRCh37/hg19 17q12(chr17:34822465-36243781)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 1703620	GRCh37/hg19 17q12(chr17:34822465-36410559)	AATF, ACACA +15 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1703619	GRCh37/hg19 17q12(chr17:34463923-36410559)	AATF, ACACA +22 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1412924	NC_000017.10:g.(?_34892951)_(36104875_?)del	AATF, ACACA +11 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1330160	GRCh37/hg19 17q12(chr17:34807069-36284994)x1	AATF, ACACA +14 more	Copy number loss	Chromosome 17q12 deletion syndrome	GLikely pathogenic
Select item 1180528	GRCh37/hg19 17q12(chr17:34815466-36249366)x3	GGNBP2, SYNRG +13 more	Copy number gain	not provided	GPathogenic
Select item 997073	GRCh37/hg19 17q12(chr17:34437475-36243028)	AATF, ACACA +20 more	Copy number gain	Polyhydramnios +1 more	GPathogenic
Select item 997067	GRCh37/hg19 17q12(chr17:34841190-35733119)	GGNBP2, LHX1 +8 more	Copy number gain	Autism with high cognitive abilities	GLikely pathogenic
Select item 997044	GRCh37/hg19 17q12(chr17:34817422-36243028)	AATF, ACACA +13 more	Copy number gain	Positional foot deformity	GPathogenic
Select item 980158	GRCh37/hg19 17q12(chr17:34822465-36410559)x3	AATF, ACACA +15 more	Copy number gain	not provided	GPathogenic
Select item 929346	GRCh37/hg19 17q12(chr17:34815551-36244358)x3	C17orf78, DDX52 +13 more	Copy number gain	See cases	GPathogenic

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