GSC[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 732566	NM_173849.3(GSC):c.744A>G (p.Glu248=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722624	NM_173849.3(GSC):c.706TCG[2] (p.Ser238del)	GSC (S238del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2460367	NM_173849.3(GSC):c.685G>T (p.Ala229Ser)	GSC (A229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2784397	NM_173849.3(GSC):c.651G>T (p.Arg217=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1291258	NM_173849.3(GSC):c.616-123G>T	GSC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2020548	NM_173849.3(GSC):c.615+9C>T	GSC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975267	NM_173849.3(GSC):c.615+8C>T	GSC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670702	NM_173849.3(GSC):c.615+7G>T	GSC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 762246	NM_173849.3(GSC):c.615+7G>A	GSC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1415342	NM_173849.3(GSC):c.606G>C (p.Glu202Asp)	GSC (E202D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974223	NM_173849.3(GSC):c.590T>C (p.Val197Ala)	GSC (V197A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392611	NM_173849.3(GSC):c.575_576delinsCC (p.Gln192Pro)	GSC (Q192P)	Indel (missense variant)	not provided	GUncertain significance
Select item 2242900	NM_173849.3(GSC):c.571G>A (p.Glu191Lys)	GSC (E191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2096152	NM_173849.3(GSC):c.566C>T (p.Thr189Met)	GSC (T189M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182192	NM_173849.3(GSC):c.564C>T (p.Gly188=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2053336	NM_173849.3(GSC):c.555G>A (p.Pro185=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708174	NM_173849.3(GSC):c.552C>T (p.Tyr184=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1483121	NM_173849.3(GSC):c.547A>C (p.Lys183Gln)	GSC (K183Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691571	NM_173849.3(GSC):c.539A>G (p.Gln180Arg)	GSC (Q180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1580785	NM_173849.3(GSC):c.492C>T (p.Arg164=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1620800	NM_173849.3(GSC):c.489C>T (p.His163=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266060	NM_173849.3(GSC):c.462G>T (p.Gln154His)	GSC (Q154H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1451457	NM_173849.3(GSC):c.462G>A (p.Gln154=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2550278	NM_173849.3(GSC):c.457A>G (p.Asn153Asp)	GSC (N153D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2171967	NM_173849.3(GSC):c.445C>T (p.Leu149=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1406987	NM_173849.3(GSC):c.437G>A (p.Arg146His)	GSC (R146H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774493	NM_173849.3(GSC):c.420C>T (p.Asn140=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3102787	NM_173849.3(GSC):c.415A>G (p.Met139Val)	GSC (M139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 126523	NM_173849.3(GSC):c.400C>T (p.Gln134Ter)	GSC (Q134*)	Single nucleotide variant (nonsense)	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	GPathogenic
Select item 1282251	NM_173849.3(GSC):c.356-186C>T	GSC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251636	NM_173849.3(GSC):c.355+213TTTTG[6]	GSC	Microsatellite (intron variant)	not provided	GBenign
Select item 1915897	NM_173849.3(GSC):c.355+11G>C	GSC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 126524	NM_173849.3(GSC):c.355+1G>C	GSC	Single nucleotide variant (splice donor variant)	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	GPathogenic
Select item 1664283	NM_173849.3(GSC):c.339C>T (p.Cys113=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496957	NM_173849.3(GSC):c.325C>G (p.Gln109Glu)	GSC (Q109E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957714	NM_173849.3(GSC):c.315G>A (p.Pro105=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983604	NM_173849.3(GSC):c.301G>A (p.Gly101Arg)	GSC (G101R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699356	NM_173849.3(GSC):c.256G>C (p.Gly86Arg)	GSC (G86R)	Single nucleotide variant (missense variant)	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	GUncertain significance
Select item 1999603	NM_173849.3(GSC):c.252C>T (p.Phe84=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095967	NM_173849.3(GSC):c.241AAC[1] (p.Asn82del)	GSC (N82del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1492214	NM_173849.3(GSC):c.236G>A (p.Gly79Asp)	GSC (G79D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047154	NM_173849.3(GSC):c.228C>A (p.Ser76=)	GSC	Single nucleotide variant (synonymous variant)	GSC-related disorder	GLikely benign
Select item 2891168	NM_173849.3(GSC):c.223G>C (p.Gly75Arg)	GSC (G75R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783695	NM_173849.3(GSC):c.214G>A (p.Ala72Thr)	GSC (A72T)	Single nucleotide variant (missense variant)	GSC-related disorder +1 more	GBenign
Select item 126522	NM_173849.3(GSC):c.196_212del (p.Gly66fs)	GSC (G66fs)	Deletion (frameshift variant)	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	GPathogenic
Select item 2391182	NM_173849.3(GSC):c.191C>A (p.Pro64His)	GSC (P64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2186692	NM_173849.3(GSC):c.189C>T (p.Ala63=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2391181	NM_173849.3(GSC):c.188C>G (p.Ala63Gly)	GSC (A63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391180	NM_173849.3(GSC):c.185T>G (p.Val62Gly)	GSC (V62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1615788	NM_173849.3(GSC):c.183C>T (p.Pro61=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043244	NM_173849.3(GSC):c.182C>A (p.Pro61His)	GSC (P61H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002520	NM_173849.3(GSC):c.180C>T (p.Arg60=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771469	NM_173849.3(GSC):c.180C>A (p.Arg60=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1671858	NM_173849.3(GSC):c.174C>T (p.Tyr58=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2257376	NM_173849.3(GSC):c.173A>C (p.Tyr58Ser)	GSC (Y58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739656	NM_173849.3(GSC):c.171C>T (p.Phe57=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257375	NM_173849.3(GSC):c.170T>G (p.Phe57Cys)	GSC (F57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2108696	NM_173849.3(GSC):c.166G>T (p.Ala56Ser)	GSC (A56S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519154	NM_173849.3(GSC):c.161A>C (p.Tyr54Ser)	GSC (Y54S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 780158	NM_173849.3(GSC):c.159C>T (p.Asp53=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2272421	NM_173849.3(GSC):c.152C>T (p.Ser51Phe)	GSC (S51F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771906	NM_173849.3(GSC):c.140GCG[4] (p.Gly49dup)	GSC	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2478778	NM_173849.3(GSC):c.146G>A (p.Gly49Asp)	GSC (G49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565640	NM_173849.3(GSC):c.145G>A (p.Gly49Ser)	GSC (G49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1471268	NM_173849.3(GSC):c.136G>T (p.Ala46Ser)	GSC (A46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916312	NM_173849.3(GSC):c.108G>T (p.Pro36=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285309	NM_173849.3(GSC):c.108G>A (p.Pro36=)	GSC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1690695	NM_173849.3(GSC):c.100G>A (p.Val34Ile)	GSC (V34I)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2161310	NM_173849.3(GSC):c.89C>T (p.Ala30Val)	GSC (A30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3102788	NM_173849.3(GSC):c.88G>A (p.Ala30Thr)	GSC (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2088970	NM_173849.3(GSC):c.81C>T (p.His27=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925627	NM_173849.3(GSC):c.77C>T (p.Ala26Val)	GSC (A26V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 724486	NM_173849.3(GSC):c.75G>C (p.Val25=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186544	NM_173849.3(GSC):c.73G>A (p.Val25Met)	GSC (V25M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076799	NM_173849.3(GSC):c.69G>C (p.Leu23Phe)	GSC (L23F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493314	NM_173849.3(GSC):c.46C>T (p.Pro16Ser)	GSC (P16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755955	NM_173849.3(GSC):c.27C>T (p.Asp9=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691570	NM_173849.3(GSC):c.25G>C (p.Asp9His)	GSC (D9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807170	NM_173849.3(GSC):c.11G>A (p.Ser4Asn)	GSC (S4N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1551266	NM_173849.3(GSC):c.6C>A (p.Pro2=)	GSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1277777	NC_000014.9:g.94770233G>A	GSC	Single nucleotide variant	not provided	GBenign
Select item 1274463	NC_000014.9:g.94770370G>A	GSC	Single nucleotide variant	not provided	GBenign
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2427553	NC_000014.8:g.(?_95078677)_(95599795_?)dup	DICER1, GSC +1 more	Duplication	DICER1-related tumor predisposition	GUncertain significance
Select item 2427518	NC_000014.8:g.(?_95080779)_(97347545_?)dup	PAPOLA, PAPOLA-DT +17 more	Duplication	not provided	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807616	GRCh37/hg19 14q32.12-32.13(chr14:94637559-95522984)x3	GSC, PPP4R4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1526434	GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218)	PPP4R4, SERPINA1 +24 more	Copy number gain	not specified	GUncertain significance

<< First< Prev

Page of 2