GAS6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	MCF2L, MCF2L-AS1 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 152620	GRCh38/hg38 13q34(chr13:113814432-113825457)x3	GAS6, GAS6-AS1 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 2530126	NM_000820.4(GAS6):c.2015C>T (p.Pro672Leu)	GAS6, GAS6-AS1 (P672L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098664	NM_000820.4(GAS6):c.1943T>G (p.Val648Gly)	GAS6, GAS6-AS1 (V648G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593302	NM_000820.4(GAS6):c.1912G>A (p.Ala638Thr)	GAS6, GAS6-AS1 (A638T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759955	NM_000820.4(GAS6):c.1902G>A (p.Ala634=)	GAS6, GAS6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713017	NM_000820.4(GAS6):c.1883-3C>T	GAS6, GAS6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2214412	NM_000820.4(GAS6):c.1870G>A (p.Gly624Ser)	GAS6, GAS6-AS1 (G624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787414	NM_000820.4(GAS6):c.1847G>A (p.Arg616Gln)	GAS6, GAS6-AS1 (R616Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786243	NM_000820.4(GAS6):c.1834G>A (p.Glu612Lys)	GAS6, GAS6-AS1 (E612K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2341472	NM_000820.4(GAS6):c.1828G>A (p.Val610Met)	GAS6, GAS6-AS1 (V610M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217073	NM_000820.4(GAS6):c.1792G>A (p.Glu598Lys)	GAS6, GAS6-AS1 (E598K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731365	NM_000820.4(GAS6):c.1791C>T (p.Ser597=)	GAS6, GAS6-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3098663	NM_000820.4(GAS6):c.1769T>C (p.Val590Ala)	GAS6, GAS6-AS1 (V590A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098662	NM_000820.4(GAS6):c.1765G>C (p.Glu589Gln)	GAS6, GAS6-AS1 (E589Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280805	NM_000820.4(GAS6):c.1750G>T (p.Gly584Cys)	GAS6, GAS6-AS1 (G584C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781125	NM_000820.4(GAS6):c.1739C>T (p.Ser580Leu)	GAS6, GAS6-AS1 (S580L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2270653	NM_000820.4(GAS6):c.1720G>A (p.Glu574Lys)	GAS6, GAS6-AS1 (E574K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098661	NM_000820.4(GAS6):c.1715G>A (p.Gly572Asp)	GAS6, GAS6-AS1 (G572D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297348	NM_000820.4(GAS6):c.1690C>A (p.Leu564Ile)	GAS6, GAS6-AS1 (L564I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611099	NM_000820.4(GAS6):c.1640A>C (p.Lys547Thr)	GAS6, GAS6-AS1 (K547T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278938	NM_000820.4(GAS6):c.1625A>G (p.Tyr542Cys)	GAS6, GAS6-AS1 (Y542C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236853	NM_000820.4(GAS6):c.1592G>A (p.Arg531His)	GAS6, GAS6-AS1 (R531H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508053	NM_000820.4(GAS6):c.1591C>T (p.Arg531Cys)	GAS6, GAS6-AS1 (R531C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791330	NM_000820.4(GAS6):c.1498G>A (p.Gly500Arg)	GAS6, GAS6-AS1 (G500R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768636	NM_000820.4(GAS6):c.1497C>T (p.Val499=)	GAS6, GAS6-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3098660	NM_000820.4(GAS6):c.1495G>A (p.Val499Ile)	GAS6, GAS6-AS1 (V499I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251356	NM_000820.4(GAS6):c.1457C>T (p.Ala486Val)	GAS6, GAS6-AS1 (A486V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520080	NM_000820.4(GAS6):c.1432T>G (p.Ser478Ala)	GAS6, GAS6-AS1 (S478A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237625	NM_000820.4(GAS6):c.1427G>A (p.Arg476Lys)	GAS6, GAS6-AS1 (R476K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372899	NM_000820.4(GAS6):c.1421C>T (p.Thr474Met)	GAS6, GAS6-AS1 (T474M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098659	NM_000820.4(GAS6):c.1415C>T (p.Ser472Leu)	GAS6, GAS6-AS1 (S472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553836	NM_000820.4(GAS6):c.1384G>A (p.Val462Met)	GAS6, GAS6-AS1 (V462M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318934	NM_000820.4(GAS6):c.1322T>C (p.Leu441Pro)	GAS6, GAS6-AS1 (L441P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791331	NM_000820.4(GAS6):c.1321C>T (p.Leu441=)	GAS6, GAS6-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3098658	NM_000820.4(GAS6):c.1216G>A (p.Ala406Thr)	GAS6, GAS6-AS1 (A406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098657	NM_000820.4(GAS6):c.1213G>A (p.Val405Met)	GAS6, GAS6-AS1 (V405M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280806	NM_000820.4(GAS6):c.1168A>C (p.Asn390His)	GAS6, GAS6-AS1 (N390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379651	NM_000820.4(GAS6):c.1168A>G (p.Asn390Asp)	GAS6, GAS6-AS1 (N390D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098656	NM_000820.4(GAS6):c.1166G>A (p.Arg389Gln)	GAS6, GAS6-AS1 (R389Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098655	NM_000820.4(GAS6):c.1153G>A (p.Glu385Lys)	GAS6, GAS6-AS1 (E385K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401654	NM_000820.4(GAS6):c.1111G>A (p.Gly371Ser)	GAS6, GAS6-AS1 (G371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098654	NM_000820.4(GAS6):c.1093G>A (p.Gly365Ser)	GAS6, GAS6-AS1 (G365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098653	NM_000820.4(GAS6):c.1078C>T (p.Arg360Cys)	GAS6, GAS6-AS1 (R360C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368903	NM_000820.4(GAS6):c.997A>G (p.Ile333Val)	GAS6, GAS6-AS1 (I333V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098674	NM_000820.4(GAS6):c.946C>G (p.Pro316Ala)	GAS6, GAS6-AS1 (P316A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353518	NM_000820.4(GAS6):c.850G>A (p.Val284Met)	GAS6, GAS6-AS1 (V284M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722726	NM_000820.4(GAS6):c.835-8C>T	GAS6, GAS6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2253366	NM_000820.4(GAS6):c.827C>T (p.Thr276Ile)	GAS6, GAS6-AS1 (T276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280809	NM_000820.4(GAS6):c.823G>A (p.Asp275Asn)	GAS6, GAS6-AS1 (D275N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 741682	NM_000820.4(GAS6):c.816G>A (p.Gln272=)	GAS6, GAS6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2292992	NM_000820.4(GAS6):c.797G>A (p.Gly266Glu)	GAS6, GAS6-AS1 (G266E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260405	NM_000820.4(GAS6):c.794G>T (p.Arg265Leu)	GAS6, GAS6-AS1 (R265L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274798	NM_000820.4(GAS6):c.790G>A (p.Gly264Arg)	GAS6, GAS6-AS1 (G264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098672	NM_000820.4(GAS6):c.789C>G (p.Asp263Glu)	GAS6, GAS6-AS1 (D263E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248059	NM_000820.4(GAS6):c.731A>C (p.Gln244Pro)	GAS6, GAS6-AS1 (Q244P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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