ClinVar for Gene (Select 3975) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3057142	NM_005568.5(LHX1):c.169C>A (p.Arg57=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related condition	GBenign
Select item 3056351	NM_005568.5(LHX1):c.1020G>A (p.Ala340=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related condition	GLikely benign
Select item 3055916	NM_005568.5(LHX1):c.1162G>T (p.Ala388Ser)	LHX1 (A388S)	Single nucleotide variant (missense variant)	LHX1-related condition	GLikely benign
Select item 3046967	NM_005568.5(LHX1):c.1188C>T (p.His396=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related condition	GLikely benign
Select item 3045827	NM_005568.5(LHX1):c.621C>T (p.Arg207=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related condition	GLikely benign
Select item 3044599	NM_005568.5(LHX1):c.171-5del	LHX1	Deletion (intron variant)	LHX1-related condition	GLikely benign
Select item 3039491	NM_005568.5(LHX1):c.1098C>T (p.His366=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related condition	GBenign
Select item 3039185	NM_005568.5(LHX1):c.1215G>A (p.Val405=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related condition	GLikely benign
Select item 3038676	NM_005568.5(LHX1):c.416C>A (p.Pro139His)	LHX1 (P139H)	Single nucleotide variant (missense variant)	LHX1-related condition	GBenign
Select item 3038454	NM_005568.5(LHX1):c.405G>A (p.Thr135=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related condition	GBenign
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	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 2647692	NM_005568.5(LHX1):c.1149G>A (p.Ser383=)	LHX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2596272	NM_005568.5(LHX1):c.171G>A (p.Arg57=)	LHX1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2580315	GRCh37/hg19 17q12(chr17:34752221-36105007)x3	AATF, ACACA +14 more	Copy number gain	Chromosome 17q12 deletion syndrome	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 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
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 2506537	GRCh37/hg19 17q12(chr17:34842545-36293050)	AATF, ACACA +14 more	Copy number loss	HNF1B-related disorders	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	LOC126862543, LOC126862544 +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
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 2463225	NM_005568.5(LHX1):c.1111G>A (p.Glu371Lys)	LHX1 (E371K)	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 2445208	Single allele	C17orf78, TADA2A +13 more	Deletion	See cases	GLikely pathogenic
Select item 2423122	NC_000017.10:g.(?_34892951)_(36104875_?)dup	DHRS11, GGNBP2 +11 more	Duplication	Hyperphosphatasia with intellectual disability syndrome 5	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 2364353	NM_005568.5(LHX1):c.1097A>G (p.His366Arg)	LHX1 (H366R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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	C17orf78, DDX52 +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	DHRS11, DUSP14 +11 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1338823	GRCh38/hg38 17q12(chr17:36719878-37889304)	DDX52, AATF +25 more	Copy number loss	Diaphragmatic eventration	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
Select item 815930	GRCh37/hg19 17q12(chr17:35258617-35825367)x3	AATF, ACACA +3 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 635885	Single allele	AATF, ACACA +13 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625732	GRCh37/hg19 17q12(chr17:34437475-36214026)	AATF, ACACA +20 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625689	GRCh37/hg19 17q12(chr17:34819191-36194230)	AATF, ACACA +13 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 625680	GRCh37/hg19 17q12(chr17:34842059-36214026)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625651	GRCh37/hg19 17q12(chr17:34819191-36104803)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625612	GRCh37/hg19 17q12(chr17:34848678-36194230)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 583497	NC_000017.10:g.(?_34856670)_(35478412_?)del	ACACA, DHRS11 +6 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 564443	GRCh37/hg19 17q12(chr17:34822465-36404136)x1	AATF, ACACA +15 more	Copy number loss	not provided	GPathogenic
Select item 564442	GRCh37/hg19 17q12(chr17:34822465-36371146)x3	AATF, ACACA +15 more	Copy number gain	not provided	GPathogenic
Select item 564441	GRCh37/hg19 17q12(chr17:34822465-36351919)x3	AATF, ACACA +15 more	Copy number gain	not provided	GPathogenic
Select item 564440	GRCh37/hg19 17q12(chr17:34822465-36316161)x3	AATF, ACACA +14 more	Copy number gain	not provided	GPathogenic
Select item 564439	GRCh37/hg19 17q12(chr17:34822465-36307773)x1	AATF, ACACA +14 more	Copy number loss	not provided	GPathogenic
Select item 564438	GRCh37/hg19 17q12(chr17:34822465-36283807)x1	AATF, ACACA +13 more	Copy number loss	not provided	GPathogenic
Select item 564437	GRCh37/hg19 17q12(chr17:34822465-36283612)x3	AATF, ACACA +13 more	Copy number gain	not provided	GPathogenic
Select item 564436	GRCh37/hg19 17q12(chr17:34822465-36244358)x1	GGNBP2, ACACA +13 more	Copy number loss	not provided	GPathogenic
Select item 564435	GRCh37/hg19 17q12(chr17:34822465-36244332)x3	LHX1, MRM1 +13 more	Copy number gain	not provided	GPathogenic
Select item 564434	GRCh37/hg19 17q12(chr17:34477385-36404555)x1	AATF, ACACA +22 more	Copy number loss	not provided	GPathogenic
Select item 564433	GRCh37/hg19 17q12(chr17:34475679-36311009)x1	AATF, ACACA +21 more	Copy number loss	not provided	GPathogenic
Select item 564432	GRCh37/hg19 17q12(chr17:34426244-36225988)x3	AATF, ACACA +21 more	Copy number gain	not provided	GPathogenic
Select item 564431	GRCh37/hg19 17q12(chr17:34425362-36283612)x3	AATF, ACACA +21 more	Copy number gain	not provided	GPathogenic
Select item 545222	NC_000017.11:g.(?_36446252)_(37887875_?)del	AATF, ACACA +33 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 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 523265	GRCh37/hg19 17q12(chr17:34611352-36248918)	DDX52, DHRS11 +16 more	Copy number gain	Lower limb muscle weakness +2 more	GPathogenic
Select item 446360	GRCh37/hg19 17q12(chr17:34815551-36244358)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 443555	GRCh37/hg19 17q12(chr17:34822465-36225988)x3	AATF, ACACA +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 443554	GRCh37/hg19 17q12(chr17:34437482-36404555)x3	AATF, ACACA +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 443354	GRCh37/hg19 17q12(chr17:34822465-36316161)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442993	GRCh37/hg19 17q12(chr17:34822466-36244358)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 442967	GRCh37/hg19 17q12(chr17:34822466-36283807)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 442749	GRCh37/hg19 17q12(chr17:34822465-36244358)x3	AATF, ACACA +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 442748	GRCh37/hg19 17q12(chr17:34822465-36244358)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 442652	GRCh37/hg19 17q12(chr17:34822465-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442610	GRCh37/hg19 17q12(chr17:34475679-36283612)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 442573	GRCh37/hg19 17q12(chr17:34447113-36283612)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 442521	GRCh37/hg19 17q12(chr17:34822466-36351934)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 442359	GRCh37/hg19 17q12(chr17:34437482-36350584)x3	AATF, ACACA +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 442284	GRCh37/hg19 17q12(chr17:34822466-36404136)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 442084	GRCh37/hg19 17q12(chr17:34822467-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442014	GRCh37/hg19 17q12(chr17:34822465-36300630)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 442009	GRCh37/hg19 17q12(chr17:34822465-36316144)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 441912	GRCh37/hg19 17q12(chr17:34822465-36397323)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 441910	GRCh37/hg19 17q12(chr17:34822465-36410559)x3	AATF, ACACA +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441643	GRCh37/hg19 17q12(chr17:34822466-36300466)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 395024	GRCh37/hg19 17q12(chr17:34849849-36151287)x3	AATF, ACACA +13 more	Copy number gain	See cases	GPathogenic
Select item 393547	GRCh37/hg19 17q12(chr17:34815551-36208392)x1	AATF, ACACA +13 more	Copy number loss	VATER association	GPathogenic
Select item 375218	GRCh37/hg19 17q12(chr17:34815072-36192492)x1	AATF, ACACA +13 more	Deletion	Chromosome 17q12 deletion syndrome	GPathogenic

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