GAS8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 60065	GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3	CDK10, CENPBD1 +68 more	Copy number gain	See cases	GUncertain significance
Select item 58271	GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1	CENPBD1, DBNDD1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 34317	GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1	CENPBD1, DBNDD1 +30 more	Copy number loss	See cases	GUncertain significance
Select item 148919	GRCh38/hg38 16q24.3(chr16:89939453-90096995)x1	CENPBD1, DBNDD1 +20 more	Copy number loss	See cases	GUncertain significance
Select item 149997	GRCh38/hg38 16q24.3(chr16:90020443-90039019)x1	GAS8, GAS8-AS1 +1 more	Copy number loss	See cases	GLikely benign
Select item 146862	GRCh38/hg38 16q24.3(chr16:90020443-90081992)x1	GAS8, GAS8-AS1 +6 more	Copy number loss	See cases	GBenign
Select item 148013	GRCh38/hg38 16q24.3(chr16:90020590-90081985)x1	GAS8, GAS8-AS1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1269255	NM_001286209.2(GAS8):c.-73+2611G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294084	NM_001286209.2(GAS8):c.-73+2728C>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 475553	NC_000016.10:g.(?_90022702)_(90040529_?)del	GAS8, GAS8-AS1	Deletion	Primary ciliary dyskinesia 33	GPathogenic
Select item 1236662	NM_001481.3(GAS8):c.-7T>G	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2177470	NM_001481.3(GAS8):c.1A>T (p.Met1Leu)	GAS8 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 1503368	NM_001481.3(GAS8):c.1A>G (p.Met1Val)	GAS8 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2989627	NM_001481.3(GAS8):c.3+7_3+12del	GAS8	Deletion (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 542264	NM_001481.3(GAS8):c.3+6C>T	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2156650	NM_001481.3(GAS8):c.3+11G>C	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 1587503	NM_001481.3(GAS8):c.3+13G>A	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GBenign
Select item 1282235	NM_001481.3(GAS8):c.3+175C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286845	NM_001481.3(GAS8):c.3+181C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221064	NM_001481.3(GAS8):c.3+203C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526391	NM_001481.3(GAS8):c.3+236C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222931	NM_001481.3(GAS8):c.3+331C>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223279	NM_001481.3(GAS8):c.4-75T>C	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1602146	NM_001481.3(GAS8):c.4-20C>T	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2892102	NM_001481.3(GAS8):c.4-18C>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2889716	NM_001481.3(GAS8):c.4-16A>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2704049	NM_001481.3(GAS8):c.4-7A>C	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 738781	NM_001481.3(GAS8):c.9G>A (p.Pro3=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2039566	NM_001481.3(GAS8):c.17A>G (p.Lys6Arg)	GAS8 (K6R)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 475563	NM_001481.3(GAS8):c.31A>G (p.Lys11Glu)	GAS8 (K11E)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 475564	NM_001481.3(GAS8):c.38A>G (p.Lys13Arg)	GAS8 (K13R)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GBenign
Select item 1512411	NM_001481.3(GAS8):c.42C>T (p.Gly14=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 772309	NM_001481.3(GAS8):c.45C>A (p.Thr15=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	GAS8-related disorder +1 more	GBenign
Select item 3013994	NM_001481.3(GAS8):c.46C>G (p.Pro16Ala)	GAS8 (P16A)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 1556086	NM_001481.3(GAS8):c.54C>T (p.Val18=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GLikely benign
Select item 710779	NM_001481.3(GAS8):c.60G>A (p.Gly20=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2178814	NM_001481.3(GAS8):c.63C>T (p.Leu21=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 542262	NM_001481.3(GAS8):c.64G>A (p.Ala22Thr)	GAS8 (A22T)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 1803105	NM_001481.3(GAS8):c.67C>G (p.Pro23Ala)	GAS8 (P23A)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 1158371	NM_001481.3(GAS8):c.69A>G (p.Pro23=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 952479	NM_001481.3(GAS8):c.76A>G (p.Met26Val)	GAS8 (M1V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 860031	NM_001481.3(GAS8):c.76A>C (p.Met26Leu)	GAS8 (M26L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 1050909	NM_001481.3(GAS8):c.81C>G (p.Ser27Arg)	GAS8 (S27R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 572231	NM_001481.3(GAS8):c.85G>A (p.Glu29Lys)	GAS8 (E4K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2831599	NM_001481.3(GAS8):c.90+11C>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2037179	NM_001481.3(GAS8):c.90+11C>T	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2760477	NM_001481.3(GAS8):c.90+13G>A	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 1262700	NM_001481.3(GAS8):c.90+39G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243800	NM_001481.3(GAS8):c.90+65A>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236426	NM_001481.3(GAS8):c.90+84C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 212708	NM_001481.3(GAS8):c.90+1487_90+1488insGCTGCCCCGCAG	GAS8, GAS8-AS1	Insertion (non-coding transcript variant +1 more)	Autism	GLikely benign
Select item 3024804	NM_001481.3(GAS8):c.90+1543C>T	GAS8, GAS8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1245758	NM_001481.3(GAS8):c.91-449G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233802	NM_001481.3(GAS8):c.91-163C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207656	NM_001481.3(GAS8):c.91-35C>A	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1608639	NM_001481.3(GAS8):c.91-20G>C	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2866490	NM_001481.3(GAS8):c.91-17C>G	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2898953	NM_001481.3(GAS8):c.97G>T (p.Glu33Ter)	GAS8 (E33* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GPathogenic
Select item 1109915	NM_001481.3(GAS8):c.105C>T (p.Val35=)	GAS8	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 3098682	NM_001481.3(GAS8):c.109C>T (p.Arg37Cys)	GAS8 (R37C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 655260	NM_001481.3(GAS8):c.110G>A (p.Arg37His)	GAS8 (R37H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2164634	NM_001481.3(GAS8):c.117G>A (p.Arg39=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2897267	NM_001481.3(GAS8):c.123G>A (p.Glu41=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2444630	NM_001481.3(GAS8):c.125T>C (p.Leu42Pro)	GAS8 (L17P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 839815	NM_001481.3(GAS8):c.131G>A (p.Arg44His)	GAS8 (R19H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 1170264	NM_001481.3(GAS8):c.132C>T (p.Arg44=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GBenign
Select item 3098683	NM_001481.3(GAS8):c.136C>T (p.Arg46Trp)	GAS8 (R21W +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547463	NM_001481.3(GAS8):c.137G>T (p.Arg46Leu)	GAS8 (R21L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2070410	NM_001481.3(GAS8):c.137G>A (p.Arg46Gln)	GAS8 (R21Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 1654363	NM_001481.3(GAS8):c.147A>C (p.Arg49=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 793784	NM_001481.3(GAS8):c.153C>T (p.Tyr51=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2053721	NM_001481.3(GAS8):c.160C>G (p.Leu54Val)	GAS8 (L29V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	GAS8-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3098684	NM_001481.3(GAS8):c.175A>T (p.Ile59Phe)	GAS8 (I34F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2663811	NM_001481.3(GAS8):c.189G>A (p.Trp63Ter)	GAS8 (W38* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GPathogenic
Select item 848017	NM_001481.3(GAS8):c.199C>T (p.Arg67Trp)	GAS8 (R42W +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 740499	NM_001481.3(GAS8):c.199C>A (p.Arg67=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2804391	NM_001481.3(GAS8):c.204G>A (p.Arg68=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 645217	NM_001481.3(GAS8):c.206A>G (p.Gln69Arg)	GAS8 (Q44R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 1478982	NM_001481.3(GAS8):c.217AAG[1] (p.Lys74del)	GAS8 (K74del +1 more)	Microsatellite (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 3098685	NM_001481.3(GAS8):c.217A>G (p.Lys73Glu)	GAS8 (K48E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380946	NM_001481.3(GAS8):c.220A>G (p.Lys74Glu)	GAS8 (K49E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2077971	NM_001481.3(GAS8):c.220_221delinsGC (p.Lys74Ala)	GAS8 (K49A +1 more)	Indel (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance

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