20951[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 146366	GRCh38/hg38 6p25.3(chr6:163083-1365190)x1	DUSP22, EXOC2 +97 more	Copy number loss	See cases	GUncertain significance
Select item 146312	GRCh38/hg38 6p25.3(chr6:163083-2029531)x3	DUSP22, EXOC2 +120 more	Copy number gain	See cases	GPathogenic
Select item 58408	GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1	DUSP22, EXOC2 +129 more	Copy number loss	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
Select item 57019	GRCh38/hg38 6p25.3(chr6:163083-1951351)x3	DUSP22, EXOC2 +118 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 151605	GRCh38/hg38 6p25.3(chr6:170426-1621983)x1	LOC129995588, LOC129995589 +110 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154664	GRCh38/hg38 6p25.3(chr6:1093293-1322172)x3	FOXQ1, LINC01622 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2593017	NM_033260.4(FOXQ1):c.29C>A (p.Ala10Glu)	FOXQ1 (A10E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279672	NM_033260.4(FOXQ1):c.31G>C (p.Ala11Pro)	FOXQ1 (A11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389567	NM_033260.4(FOXQ1):c.64G>A (p.Gly22Ser)	FOXQ1 (G22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279682	NM_033260.4(FOXQ1):c.68C>T (p.Ala23Val)	FOXQ1 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096580	NM_033260.4(FOXQ1):c.103G>A (p.Ala35Thr)	FOXQ1 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279675	NM_033260.4(FOXQ1):c.114C>G (p.Asp38Glu)	FOXQ1 (D38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514153	NM_033260.4(FOXQ1):c.158C>T (p.Ala53Val)	FOXQ1 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546118	NM_033260.4(FOXQ1):c.179C>T (p.Thr60Met)	FOXQ1 (T60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299858	NM_033260.4(FOXQ1):c.181C>G (p.Gln61Glu)	FOXQ1 (Q61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096582	NM_033260.4(FOXQ1):c.189C>A (p.Asp63Glu)	FOXQ1 (D63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279679	NM_033260.4(FOXQ1):c.214C>G (p.Pro72Ala)	FOXQ1 (P72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096583	NM_033260.4(FOXQ1):c.215C>A (p.Pro72Gln)	FOXQ1 (P72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287058	NM_033260.4(FOXQ1):c.221C>T (p.Ala74Val)	FOXQ1 (A74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279680	NM_033260.4(FOXQ1):c.226G>A (p.Glu76Lys)	FOXQ1 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409069	NM_033260.4(FOXQ1):c.290G>C (p.Gly97Ala)	FOXQ1 (G97A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656171	NM_033260.4(FOXQ1):c.302G>A (p.Gly101Asp)	FOXQ1 (G101D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2380041	NM_033260.4(FOXQ1):c.307G>A (p.Ala103Thr)	FOXQ1 (A103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612023	NM_033260.4(FOXQ1):c.349C>T (p.Arg117Trp)	FOXQ1 (R117W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620454	NM_033260.4(FOXQ1):c.357G>C (p.Lys119Asn)	FOXQ1 (K119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788530	NM_033260.4(FOXQ1):c.387C>T (p.Ala129=)	FOXQ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3096585	NM_033260.4(FOXQ1):c.388A>C (p.Met130Leu)	FOXQ1 (M130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096586	NM_033260.4(FOXQ1):c.430G>C (p.Glu144Gln)	FOXQ1 (E144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279683	NM_033260.4(FOXQ1):c.438C>G (p.Asn146Lys)	FOXQ1 (N146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096587	NM_033260.4(FOXQ1):c.550C>G (p.Pro184Ala)	FOXQ1 (P184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279673	NM_033260.4(FOXQ1):c.553T>G (p.Ser185Ala)	FOXQ1 (S185A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743235	NM_033260.4(FOXQ1):c.567C>T (p.Gly189=)	FOXQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279674	NM_033260.4(FOXQ1):c.596A>G (p.Asn199Ser)	FOXQ1 (N199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096588	NM_033260.4(FOXQ1):c.616G>A (p.Asp206Asn)	FOXQ1 (D206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388453	NM_033260.4(FOXQ1):c.689A>G (p.Glu230Gly)	FOXQ1 (E230G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096589	NM_033260.4(FOXQ1):c.692A>C (p.Glu231Ala)	FOXQ1 (E231A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388454	NM_033260.4(FOXQ1):c.698C>G (p.Pro233Arg)	FOXQ1 (P233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389954	NM_033260.4(FOXQ1):c.707C>T (p.Pro236Leu)	FOXQ1 (P236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096590	NM_033260.4(FOXQ1):c.713C>T (p.Ala238Val)	FOXQ1 (A238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328666	NM_033260.4(FOXQ1):c.737C>T (p.Pro246Leu)	FOXQ1 (P246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279676	NM_033260.4(FOXQ1):c.749G>A (p.Arg250His)	FOXQ1 (R250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279677	NM_033260.4(FOXQ1):c.752T>G (p.Met251Arg)	FOXQ1 (M251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540007	NM_033260.4(FOXQ1):c.786C>G (p.Ser262Arg)	FOXQ1 (S262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284411	NM_033260.4(FOXQ1):c.853C>T (p.Arg285Cys)	FOXQ1 (R285C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312046	NM_033260.4(FOXQ1):c.872C>T (p.Pro291Leu)	FOXQ1 (P291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610251	NM_033260.4(FOXQ1):c.874G>C (p.Gly292Arg)	FOXQ1 (G292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319854	NM_033260.4(FOXQ1):c.898G>C (p.Ala300Pro)	FOXQ1 (A300P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319855	NM_033260.4(FOXQ1):c.899C>T (p.Ala300Val)	FOXQ1 (A300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279670	NM_033260.4(FOXQ1):c.908C>A (p.Pro303Gln)	FOXQ1 (P303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279684	NM_033260.4(FOXQ1):c.934C>G (p.Leu312Val)	FOXQ1 (L312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096591	NM_033260.4(FOXQ1):c.955G>A (p.Ala319Thr)	FOXQ1 (A319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279671	NM_033260.4(FOXQ1):c.964C>T (p.Pro322Ser)	FOXQ1 (P322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318474	NM_033260.4(FOXQ1):c.985G>A (p.Gly329Ser)	FOXQ1 (G329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249707	NM_033260.4(FOXQ1):c.1001T>G (p.Leu334Arg)	FOXQ1 (L334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768059	NM_033260.4(FOXQ1):c.1013A>G (p.Glu338Gly)	FOXQ1 (E338G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3096579	NM_033260.4(FOXQ1):c.1036C>T (p.Pro346Ser)	FOXQ1 (P346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769313	NM_033260.4(FOXQ1):c.1041C>G (p.Pro347=)	FOXQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2351337	NM_033260.4(FOXQ1):c.1043T>C (p.Leu348Pro)	FOXQ1 (L348P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360291	NM_033260.4(FOXQ1):c.1061C>T (p.Pro354Leu)	FOXQ1 (P354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279681	NM_033260.4(FOXQ1):c.1078A>C (p.Lys360Gln)	FOXQ1 (K360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302874	NM_033260.4(FOXQ1):c.1084C>T (p.Leu362Phe)	FOXQ1 (L362F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408104	NM_033260.4(FOXQ1):c.1088G>C (p.Arg363Pro)	FOXQ1 (R363P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386299	NM_033260.4(FOXQ1):c.1097C>T (p.Ala366Val)	FOXQ1 (A366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385321	NM_033260.4(FOXQ1):c.1120T>C (p.Cys374Arg)	FOXQ1 (C374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365344	NM_033260.4(FOXQ1):c.1123C>T (p.Pro375Ser)	FOXQ1 (P375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096581	NM_033260.4(FOXQ1):c.1171G>C (p.Gly391Arg)	FOXQ1 (G391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279678	NM_033260.4(FOXQ1):c.1184C>T (p.Pro395Leu)	FOXQ1 (P395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213760	NM_033260.4(FOXQ1):c.1187A>C (p.Tyr396Ser)	FOXQ1 (Y396S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279685	NM_033260.4(FOXQ1):c.1190C>T (p.Pro397Leu)	FOXQ1 (P397L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354176	NM_033260.4(FOXQ1):c.1201C>A (p.Leu401Ile)	FOXQ1 (L401I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 3062926	GRCh37/hg19 6p25.3(chr6:192543-1445812)x3	DUSP22, EXOC2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 2685193	GRCh37/hg19 6p25.3(chr6:647204-1716710)x1	EXOC2, FOXC1 +4 more	Copy number loss	not provided	GPathogenic
Select item 2685192	GRCh37/hg19 6p25.3(chr6:156975-2072578)x1	DUSP22, EXOC2 +6 more	Copy number loss	not provided	GPathogenic

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