64601[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 155405	GRCh38/hg38 20p13(chr20:2526755-3081651)x3	C20orf141, CPXM1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1246266	NC_000020.11:g.2840498C>T	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1268336	NM_022575.4(VPS16):c.-21C>T	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2498877	NM_022575.4(VPS16):c.-6C>G	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2211623	NM_022575.4(VPS16):c.5A>G (p.Asp2Gly)	PCED1A, VPS16 (D2G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1879531	NM_022575.4(VPS16):c.51C>G (p.Tyr17Ter)	PCED1A, VPS16 (Y17*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1259313	NM_022575.4(VPS16):c.53+55C>T	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1286534	NM_022575.4(VPS16):c.53+128C>T	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2652155	NM_022575.4(VPS16):c.54-4G>A	VPS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2429767	NM_022575.4(VPS16):c.130G>A (p.Gly44Arg)	VPS16 (G44R)	Single nucleotide variant (missense variant)	Dystonia 30	GUncertain significance
Select item 3188833	NM_022575.4(VPS16):c.136C>T (p.Pro46Ser)	VPS16 (P46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663845	NM_022575.4(VPS16):c.143-2A>T	VPS16	Single nucleotide variant (splice acceptor variant)	Dystonia 30	GLikely pathogenic
Select item 1065418	NM_022575.4(VPS16):c.156C>A (p.Asn52Lys)	VPS16 (N52K)	Single nucleotide variant (missense variant)	Dystonia 30	GPathogenic
Select item 2652156	NM_022575.4(VPS16):c.198C>G (p.Leu66=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2324795	NM_022575.4(VPS16):c.199G>A (p.Asp67Asn)	VPS16 (D67N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358861	NM_022575.4(VPS16):c.206A>C (p.Tyr69Ser)	VPS16 (Y69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1242073	NM_022575.4(VPS16):c.216C>T (p.Ser72=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3188839	NM_022575.4(VPS16):c.233G>T (p.Ser78Ile)	VPS16 (S78I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1065417	NM_022575.4(VPS16):c.244_259delinsGAGAGC (p.Lys82fs)	VPS16 (K82fs)	Indel (frameshift variant)	Dystonia 30	GPathogenic
Select item 1272504	NM_022575.4(VPS16):c.285G>A (p.Glu95=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2498878	NM_022575.4(VPS16):c.286G>A (p.Glu96Lys)	VPS16 (E96K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2385830	NM_022575.4(VPS16):c.367A>C (p.Asn123His)	VPS16 (N123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332212	NM_022575.4(VPS16):c.368A>G (p.Asn123Ser)	VPS16 (N123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652157	NM_022575.4(VPS16):c.375G>A (p.Val125=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329757	NM_022575.4(VPS16):c.407T>C (p.Phe136Ser)	VPS16 (F136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652158	NM_022575.4(VPS16):c.411C>T (p.His137=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2216947	NM_022575.4(VPS16):c.427G>A (p.Gly143Arg)	VPS16 (G143R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373250	NM_022575.4(VPS16):c.470C>T (p.Ala157Val)	VPS16 (A157V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188842	NM_022575.4(VPS16):c.496C>T (p.Arg166Trp)	VPS16 (R166W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 932238	NM_022575.4(VPS16):c.540G>T (p.Trp180Cys)	VPS16 (W180C)	Single nucleotide variant (missense variant)	Neutropenia +3 more	GUncertain significance
Select item 2270943	NM_022575.4(VPS16):c.544G>C (p.Val182Leu)	VPS16 (V182L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1065413	NM_022575.4(VPS16):c.559C>T (p.Arg187Ter)	VPS16 (R187*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3339683	NM_022575.4(VPS16):c.583G>A (p.Val195Met)	VPS16 (V195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225762	NM_022575.4(VPS16):c.626C>T (p.Ala209Val)	VPS16 (A209V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250639	NM_022575.4(VPS16):c.633G>A (p.Thr211=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652159	NM_022575.4(VPS16):c.636C>T (p.Pro212=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597413	NM_022575.4(VPS16):c.638C>T (p.Pro213Leu)	VPS16 (P213L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188843	NM_022575.4(VPS16):c.676G>A (p.Ala226Thr)	VPS16 (A226T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 987017	NM_022575.4(VPS16):c.721_727del (p.Gly241fs)	VPS16 (G241fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1722454	NM_022575.4(VPS16):c.737G>A (p.Gly246Glu)	VPS16 (G246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246678	NM_022575.4(VPS16):c.770T>G (p.Phe257Cys)	VPS16 (F257C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332209	NM_022575.4(VPS16):c.773A>G (p.Asn258Ser)	VPS16 (N258S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637567	NM_022575.4(VPS16):c.775T>C (p.Cys259Arg)	VPS16 (C259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804162	NM_022575.4(VPS16):c.784C>T (p.Arg262Trp)	VPS16 (R262W)	Single nucleotide variant (missense variant)	Dystonia 30 +1 more	GUncertain significance
Select item 1275451	NM_022575.4(VPS16):c.810-159T>C	VPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3188844	NM_022575.4(VPS16):c.812G>A (p.Cys271Tyr)	VPS16 (C271Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387651	NM_022575.4(VPS16):c.817C>T (p.Arg273Cys)	VPS16 (R273C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188845	NM_022575.4(VPS16):c.824G>A (p.Arg275His)	VPS16 (R275H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591718	NM_022575.4(VPS16):c.841G>A (p.Val281Met)	VPS16 (V281M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360135	NM_022575.4(VPS16):c.880G>A (p.Asp294Asn)	VPS16 (D294N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323518	NM_022575.4(VPS16):c.884C>G (p.Ala295Gly)	VPS16 (A295G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358054	NM_022575.4(VPS16):c.886C>T (p.Pro296Ser)	VPS16 (P296S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342194	NM_022575.4(VPS16):c.900-9C>G	VPS16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2348734	NM_022575.4(VPS16):c.904G>A (p.Val302Met)	VPS16 (V302M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332211	NM_022575.4(VPS16):c.928G>A (p.Val310Met)	VPS16 (V310M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410622	NM_022575.4(VPS16):c.949C>T (p.Arg317Cys)	VPS16 (R317C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2603763	NM_022575.4(VPS16):c.973G>A (p.Glu325Lys)	VPS16 (E325K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1224737	NM_022575.4(VPS16):c.995-15A>C	VPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2313610	NM_022575.4(VPS16):c.1008A>T (p.Glu336Asp)	VPS16 (E336D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3188832	NM_022575.4(VPS16):c.1018A>G (p.Ile340Val)	VPS16 (I340V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1283086	NM_022575.4(VPS16):c.1072-172A>G	VPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2491719	NM_022575.4(VPS16):c.1073A>G (p.Lys358Arg)	VPS16 (K358R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398165	NM_022575.4(VPS16):c.1088C>T (p.Ala363Val)	VPS16 (A363V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460721	NM_022575.4(VPS16):c.1090G>A (p.Asp364Asn)	VPS16 (D364N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1065414	NM_022575.4(VPS16):c.1094_1095dup (p.Tyr366fs)	VPS16 (Y366fs)	Duplication (frameshift variant +1 more)	Dystonia 30	GPathogenic
Select item 2251519	NM_022575.4(VPS16):c.1095G>C (p.Glu365Asp)	VPS16 (E365D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357982	NM_022575.4(VPS16):c.1102C>T (p.Arg368Trp)	VPS16 (R368W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332208	NM_022575.4(VPS16):c.1127T>A (p.Leu376Gln)	VPS16 (L376Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455476	NM_022575.4(VPS16):c.1192A>C (p.Ser398Arg)	VPS16 (S398R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652160	NM_022575.4(VPS16):c.1254C>T (p.Phe418=)	VPS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2407723	NM_022575.4(VPS16):c.1255G>A (p.Val419Met)	VPS16 (V419M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274075	NM_022575.4(VPS16):c.1316C>T (p.Pro439Leu)	VPS16 (P439L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3342195	NM_022575.4(VPS16):c.1326T>A (p.Tyr442Ter)	VPS16 (Y442*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1347858	NM_022575.4(VPS16):c.1331+2T>C	VPS16	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1879532	NM_022575.4(VPS16):c.1332-1G>T	VPS16	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 976681	NM_022575.4(VPS16):c.1335T>G (p.Tyr445Ter)	VPS16 (Y301* +1 more)	Single nucleotide variant (nonsense)	VPS16-associated disorder	GPathogenic
Select item 2652161	NM_022575.4(VPS16):c.1348A>G (p.Ile450Val)	VPS16 (I306V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1065416	NM_022575.4(VPS16):c.1367+2T>C	VPS16	Single nucleotide variant (splice donor variant)	Dystonia 30	GPathogenic
Select item 2331483	NM_022575.4(VPS16):c.1369C>T (p.Leu457Phe)	VPS16 (L313F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550076	NM_022575.4(VPS16):c.1372G>A (p.Val458Met)	VPS16 (V314M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695013	NM_022575.4(VPS16):c.1389C>G (p.Tyr463Ter)	VPS16 (Y319* +1 more)	Single nucleotide variant (nonsense)	Dystonia 30 +1 more	GLikely pathogenic
Select item 3188834	NM_022575.4(VPS16):c.1421G>A (p.Arg474His)	VPS16 (R330H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365587	NM_022575.4(VPS16):c.1435C>T (p.Gln479Ter)	VPS16 (Q335* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2376890	NM_022575.4(VPS16):c.1449G>C (p.Arg483Ser)	VPS16 (R483S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1229162	NM_022575.4(VPS16):c.1476+182T>C	VPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258682	NM_022575.4(VPS16):c.1477-125AGAA[5]	VPS16	Microsatellite (intron variant)	not provided	GBenign

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