ClinVar for Gene (Select 400566) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063530	GRCh37/hg19 17p13.3(chr17:124754-643426)x1	LIAT1, RFLNB +3 more	Copy number loss	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3063481	GRCh37/hg19 17p13.3(chr17:141345-699175)x1	GEMIN4, GLOD4 +6 more	Copy number loss	not specified	GPathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684826	GRCh37/hg19 17p13.3(chr17:38928-509901)x3	LIAT1, RFLNB +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2672675	NM_001013672.5(LIAT1):c.912C>T (p.Gly304=)	LIAT1, LOC105371430	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647161	NM_001013672.5(LIAT1):c.1002C>T (p.Gly334=)	LOC105371430, LIAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647160	NM_001013672.5(LIAT1):c.891C>T (p.Pro297=)	LIAT1, LOC105371430	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647159	NM_001013672.5(LIAT1):c.801C>T (p.Pro267=)	LIAT1, LOC105371430	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647158	NM_001013672.5(LIAT1):c.748G>A (p.Glu250Lys)	LIAT1, LOC105371430 (E250K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647157	NM_001013672.5(LIAT1):c.702C>T (p.Gly234=)	LIAT1, LOC105371430	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647156	NM_001013672.5(LIAT1):c.651C>T (p.Pro217=)	LIAT1, LOC105371430	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647155	NM_001013672.5(LIAT1):c.642C>T (p.Gly214=)	LIAT1, LOC105371430	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647154	NM_001013672.5(LIAT1):c.621C>T (p.Pro207=)	LIAT1, LOC105371430	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2571006	GRCh37/hg19 17p13.3(chr17:65445-695309)x1	GEMIN4, GLOD4 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2446822	GRCh37/hg19 17p13.3(chr17:1-450099)	RFLNB, DOC2B +3 more	Copy number gain	not specified	GUncertain significance
Select item 2366412	NM_001013672.5(LIAT1):c.381G>C (p.Glu127Asp)	LIAT1, LOC105371430 (E127D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2358686	NM_001013672.5(LIAT1):c.1240C>T (p.His414Tyr)	LIAT1 (H414Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351331	NM_001013672.5(LIAT1):c.709C>A (p.Pro237Thr)	LIAT1, LOC105371430 (P237T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342489	NM_001013672.5(LIAT1):c.688G>A (p.Glu230Lys)	LIAT1, LOC105371430 (E230K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2258275	NM_001013672.5(LIAT1):c.64C>G (p.Pro22Ala)	LIAT1, LOC105371430 +1 more (P22A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216780	NM_001013672.5(LIAT1):c.381G>T (p.Glu127Asp)	LIAT1, LOC105371430 (E127D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1703618	GRCh37/hg19 17p13.3(chr17:525-1464281)	ABR, BHLHA9 +17 more	Copy number loss	Miller Dieker syndrome	GPathogenic
Select item 1526557	GRCh37/hg19 17p13.3(chr17:124894-745738)	GEMIN4, GLOD4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1340071	GRCh37/hg19 17p13.3(chr17:526-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 984984	GRCh37/hg19 17p13.3(chr17:1-1026797)x1	GEMIN4, ABR +10 more	Copy number loss	Robinow syndrome, autosomal recessive 2	GLikely pathogenic
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 980152	GRCh37/hg19 17p13.3(chr17:124892-745738)x3	GEMIN4, GLOD4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980149	GRCh37/hg19 17p13.3(chr17:525-833922)x4	DOC2B, GEMIN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 980148	GRCh37/hg19 17p13.3(chr17:111222-964297)x3	ABR, GEMIN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 980147	GRCh37/hg19 17p13.3(chr17:525-1450120)x1	ABR, BHLHA9 +17 more	Copy number loss	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 815875	GRCh37/hg19 17p13.3(chr17:525-969410)x3	ABR, DOC2B +10 more	Copy number gain	not provided	GUncertain significance
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
Select item 688559	GRCh37/hg19 17p13.3(chr17:525-447663)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 688125	GRCh37/hg19 17p13.3(chr17:217261-601019)x3	LIAT1, RFLNB +1 more	Copy number gain	not provided	GUncertain significance
Select item 688066	GRCh37/hg19 17p13.3(chr17:208901-460671)x1	LIAT1, RFLNB +1 more	Copy number loss	not provided	GUncertain significance
Select item 687731	GRCh37/hg19 17p13.3(chr17:525-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686486	GRCh37/hg19 17p13.3(chr17:55804-1310807)x1	NXN, RFLNB +12 more	Copy number loss	not provided	GUncertain significance
Select item 686454	GRCh37/hg19 17p13.3(chr17:204945-440699)x3	RFLNB, VPS53 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686448	GRCh37/hg19 17p13.3(chr17:525-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685923	GRCh37/hg19 17p13.3(chr17:114507-274456)x1	C17orf97, RPH3AL	Copy number loss	not provided	GUncertain significance
Select item 685799	GRCh37/hg19 17p13.3(chr17:39027-843700)x3	GEMIN4, GLOD4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685182	GRCh37/hg19 17p13.3(chr17:525-1225474)x1	ABR, BHLHA9 +12 more	Copy number loss	not provided	GUncertain significance
Select item 635883	Single allele	GEMIN4, GLOD4 +6 more	Deletion	Growth abnormality	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564380	GRCh37/hg19 17p13.3(chr17:141345-509901)x1	LIAT1, RFLNB +2 more	Copy number loss	not provided	GUncertain significance
Select item 564379	GRCh37/hg19 17p13.3(chr17:141235-1227927)x3	ABR, BHLHA9 +11 more	Copy number gain	not provided	GPathogenic
Select item 564378	GRCh37/hg19 17p13.3(chr17:15498-699175)x1	DOC2B, GEMIN4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 564376	GRCh37/hg19 17p13.3(chr17:525-981413)x1	ABR, DOC2B +10 more	Copy number loss	not provided	GUncertain significance
Select item 564375	GRCh37/hg19 17p13.3(chr17:525-880983)x1	DOC2B, GEMIN4 +8 more	Copy number loss	not provided	GUncertain significance
Select item 564374	GRCh37/hg19 17p13.3(chr17:525-447663)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 544685	GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5	INPP5K, LIAT1 +41 more	Copy number gain	Echogenic fetal bowel +4 more	GUncertain significance
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443265	GRCh37/hg19 17p13.3(chr17:525-2750745)x1	DPH1, ABR +43 more	Copy number loss	See cases	GPathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442860	GRCh37/hg19 17p13.3(chr17:525-1968434)x1	ABR, BHLHA9 +35 more	Copy number loss	See cases	GPathogenic
Select item 442755	GRCh37/hg19 17p13.3(chr17:525-2264023)x1	ABR, BHLHA9 +38 more	Copy number loss	See cases	GPathogenic
Select item 442314	GRCh37/hg19 17p13.3(chr17:129114-745738)x3	GEMIN4, GLOD4 +7 more	Copy number gain	See cases	GUncertain significance
Select item 442062	GRCh37/hg19 17p13.3(chr17:10622-1511353)x1	ABR, BHLHA9 +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441880	GRCh37/hg19 17p13.3(chr17:525-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	See cases	Gconflicting data from submitters
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 395344	GRCh37/hg19 17p13.3(chr17:148092-264204)x3	C17orf97, RPH3AL	Copy number gain	See cases	GLikely benign
Select item 395330	GRCh37/hg19 17p13.3(chr17:6160-436910)x3	DOC2B, LIAT1 +3 more	Copy number gain	See cases	GLikely benign
Select item 395042	GRCh37/hg19 17p13.3(chr17:6160-919381)x1	ABR, DOC2B +10 more	Copy number loss	See cases	GUncertain significance
Select item 394518	GRCh37/hg19 17p13.3(chr17:48858-643699)x1	LIAT1, RFLNB +3 more	Copy number loss	See cases	GUncertain significance
Select item 394439	GRCh37/hg19 17p13.3(chr17:48858-2940028)x1	ABR, BHLHA9 +42 more	Copy number loss	See cases	GPathogenic
Select item 394212	GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	GEMIN4, ABR +55 more	Copy number loss	See cases	GPathogenic
Select item 394107	GRCh37/hg19 17p13.3(chr17:6160-264204)x3	C17orf97, DOC2B +1 more	Copy number gain	See cases	GBenign
Select item 394025	GRCh37/hg19 17p13.3(chr17:6160-1114083)x1	ABR, DOC2B +10 more	Copy number loss	See cases	GUncertain significance
Select item 393943	GRCh37/hg19 17p13.3(chr17:199921-264204)x3	C17orf97, RPH3AL	Copy number gain	See cases	GBenign/Likely benign
Select item 393889	GRCh37/hg19 17p13.3(chr17:6160-2002365)	BHLHA9, CRK +35 more	Copy number gain	See cases	GPathogenic
Select item 253806	GRCh37/hg19 17p13.3(chr17:48858-902021)x1	GEMIN4, GLOD4 +8 more	Copy number loss	See cases	GUncertain significance
Select item 219022	GRCh37/hg19 17p13.3(chr17:48858-920692)x1	NXN, RFLNB +9 more	Copy number loss	See cases	GPathogenic
Select item 154410	GRCh38/hg38 17p13.3(chr17:186959-969740)x1	GEMIN4, GLOD4 +39 more	Copy number loss	See cases	GUncertain significance
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	HIC1, INPP5K +303 more	Copy number loss	See cases	GPathogenic
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 152858	GRCh38/hg38 17p13.3(chr17:179378-813490)x1	DOC2B, GEMIN4 +35 more	Copy number loss	See cases	GUncertain significance
Select item 150541	GRCh38/hg38 17p13.3(chr17:279582-722097)x3	LIAT1, LOC105371430 +18 more	Copy number gain	See cases	GLikely benign
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	BHLHA9, CRK +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 147604	GRCh38/hg38 17p13.3(chr17:333871-880361)x3	GEMIN4, GLOD4 +33 more	Copy number gain	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059934, LOC130059935 +243 more	Copy number loss	See cases	GPathogenic
Select item 145942	GRCh38/hg38 17p13.3(chr17:377882-540581)x3	LIAT1, LOC105371430 +6 more	Copy number gain	See cases	GLikely benign
Select item 145871	GRCh38/hg38 17p13.3(chr17:377882-446691)x3	LIAT1, LOC105371430 +4 more	Copy number gain	See cases	GLikely benign
Select item 145843	GRCh38/hg38 17p13.3(chr17:311632-414413)x3	LIAT1, LOC105371430 +7 more	Copy number gain	See cases	GLikely benign

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