ClinVar for Gene (Select 105371430) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	ABR, ABR-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 60096	GRCh38/hg38 17p13.3(chr17:279611-848014)x3	GEMIN4, GLOD4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 60095	GRCh38/hg38 17p13.3(chr17:258417-770280)x3	GEMIN4, GLOD4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 60093	GRCh38/hg38 17p13.3(chr17:198748-496099)x3	LIAT1, LOC105371430 +11 more	Copy number gain	See cases	GUncertain significance
Select item 59543	GRCh38/hg38 17p13.3(chr17:193307-1376276)x1	ABR, ABR-AS1 +56 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	ABR, ABR-AS1 +178 more	Copy number gain	See cases	GPathogenic
Select item 58275	GRCh38/hg38 17p13.3(chr17:279388-729021)x1	LIAT1, LOC105371430 +18 more	Copy number loss	See cases	GUncertain significance
Select item 57476	GRCh38/hg38 17p13.3(chr17:198748-722235)x3	LIAT1, LOC105371430 +19 more	Copy number gain	See cases	GUncertain significance
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 47