LOC130006206[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 41158	NC_000011.10:g.67481947_67487763del	LOC130006206, LOC130006207 +3 more	Deletion (genic upstream transcript variant)	Somatotroph adenoma	GLikely pathogenic
Select item 41161	NM_003977.4(AIP):c.100-1025_279+357del	AIP, LOC130006206 +1 more	Deletion (splice acceptor variant +2 more)	Somatotroph adenoma	GLikely pathogenic
Select item 596138	NM_003977.4(AIP):c.100-18C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1658411	NM_003977.4(AIP):c.100-17T>G	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658276	NM_003977.4(AIP):c.100-16C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822775	NM_003977.4(AIP):c.100-15G>C	LOC130006206, AIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590790	NM_003977.4(AIP):c.100-15G>A	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637587	NM_003977.4(AIP):c.100-13A>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536895	NM_003977.4(AIP):c.100-13A>G	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1394471	NM_003977.4(AIP):c.100-12T>G	AIP, LOC130006206	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1153003	NM_003977.4(AIP):c.100-7C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996240	NM_003977.4(AIP):c.100-6C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169842	NM_003977.4(AIP):c.100-6C>A	AIP, LOC130006206	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign
Select item 2954776	NM_003977.4(AIP):c.100-5C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1536395	NM_003977.4(AIP):c.100-4A>C	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1470153	NM_003977.4(AIP):c.100-4del	AIP, LOC130006206	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2566786	NM_003977.4(AIP):c.100-3C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2419610	NM_003977.4(AIP):c.100-3C>G	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 822003	NM_003977.4(AIP):c.100G>T (p.Ala34Ser)	AIP, LOC130006206 (A34S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 822001	NM_003977.4(AIP):c.100G>A (p.Ala34Thr)	AIP, LOC130006206 (A34T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 305725	NM_003977.4(AIP):c.102C>G (p.Ala34=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma	GUncertain significance
Select item 485058	NM_003977.4(AIP):c.104C>T (p.Thr35Met)	AIP, LOC130006206 (T35M)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 1673800	NM_003977.4(AIP):c.105G>T (p.Thr35=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 818316	NM_003977.4(AIP):c.105G>A (p.Thr35=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2481055	NM_003977.4(AIP):c.106T>G (p.Phe36Val)	AIP, LOC130006206 (F36V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822137	NM_003977.4(AIP):c.108C>T (p.Phe36=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2127517	NM_003977.4(AIP):c.109C>T (p.His37Tyr)	AIP, LOC130006206 (H37Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1728034	NM_003977.4(AIP):c.112T>C (p.Tyr38His)	AIP, LOC130006206 (Y38H)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1736248	NM_003977.4(AIP):c.115C>A (p.Arg39=)	LOC130006206, AIP	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1001466	NM_003977.4(AIP):c.115C>G (p.Arg39Gly)	AIP, LOC130006206 (R39G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 861039	NM_003977.4(AIP):c.115C>T (p.Arg39Trp)	AIP, LOC130006206 (R39W)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 818481	NM_003977.4(AIP):c.116G>A (p.Arg39Gln)	LOC130006206, AIP (R39Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 818567	NM_003977.4(AIP):c.119C>T (p.Thr40Met)	AIP, LOC130006206 (T40M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 818603	NM_003977.4(AIP):c.120G>A (p.Thr40=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2856094	NM_003977.4(AIP):c.121C>G (p.Leu41Val)	AIP, LOC130006206 (L41V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1543340	NM_003977.4(AIP):c.123G>A (p.Leu41=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2452495	NM_003977.4(AIP):c.124C>G (p.His42Asp)	AIP, LOC130006206 (H42D)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1493680	NM_003977.4(AIP):c.126C>G (p.His42Gln)	AIP, LOC130006206 (H42Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1127735	NM_003977.4(AIP):c.126C>T (p.His42=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2087473	NM_003977.4(AIP):c.127A>G (p.Ser43Gly)	AIP, LOC130006206 (S43G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1769332	NM_003977.4(AIP):c.129T>C (p.Ser43=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 259204	NM_003977.4(AIP):c.132C>T (p.Asp44=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 1040600	NM_003977.4(AIP):c.133G>A (p.Asp45Asn)	AIP, LOC130006206 (D45N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1770561	NM_003977.4(AIP):c.134A>T (p.Asp45Val)	AIP, LOC130006206 (D45V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2102813	NM_003977.4(AIP):c.135C>G (p.Asp45Glu)	AIP, LOC130006206 (D45E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 41162	NM_003977.4(AIP):c.135C>T (p.Asp45=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1516920	NM_003977.4(AIP):c.136G>C (p.Glu46Gln)	AIP, LOC130006206 (E46Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 819007	NM_003977.4(AIP):c.136G>A (p.Glu46Lys)	AIP, LOC130006206 (E46K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1463124	NM_003977.4(AIP):c.138G>T (p.Glu46Asp)	AIP, LOC130006206 (E46D)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41163	NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del)	AIP, LOC130006206	Deletion (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 819117	NM_003977.4(AIP):c.139G>A (p.Gly47Ser)	AIP, LOC130006206 (G47S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1771994	NM_003977.4(AIP):c.140G>C (p.Gly47Ala)	AIP, LOC130006206 (G47A)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1430344	NM_003977.4(AIP):c.140G>A (p.Gly47Asp)	AIP, LOC130006206 (G47D)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 2823790	NM_003977.4(AIP):c.141C>T (p.Gly47=)	LOC130006206, AIP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1620193	NM_003977.4(AIP):c.144C>G (p.Thr48=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 819248	NM_003977.4(AIP):c.144C>T (p.Thr48=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GBenign/Likely benign
Select item 1516459	NM_003977.4(AIP):c.145G>T (p.Val49Leu)	AIP, LOC130006206 (V49L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 41164	NM_003977.4(AIP):c.145G>A (p.Val49Met)	AIP, LOC130006206 (V49M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3053944	NM_003977.4(AIP):c.147G>C (p.Val49=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	AIP-related disorder	GLikely benign
Select item 1773746	NM_003977.4(AIP):c.148C>T (p.Leu50=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1774171	NM_003977.4(AIP):c.150G>A (p.Leu50=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3279563	NM_003977.4(AIP):c.151GAC[1] (p.Asp52del)	AIP, LOC130006206 (D52del)	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1774401	NM_003977.4(AIP):c.151G>C (p.Asp51His)	AIP, LOC130006206 (D51H)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 819423	NM_003977.4(AIP):c.151G>A (p.Asp51Asn)	AIP, LOC130006206 (D51N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 2010264	NM_003977.4(AIP):c.152A>G (p.Asp51Gly)	AIP, LOC130006206 (D51G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1470776	NM_003977.4(AIP):c.152A>T (p.Asp51Val)	AIP, LOC130006206 (D51V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 819440	NM_003977.4(AIP):c.153C>T (p.Asp51=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1775024	NM_003977.4(AIP):c.154G>A (p.Asp52Asn)	AIP, LOC130006206 (D52N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1500478	NM_003977.4(AIP):c.155A>G (p.Asp52Gly)	AIP, LOC130006206 (D52G)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2586855	NM_003977.4(AIP):c.157A>C (p.Ser53Arg)	AIP, LOC130006206 (S53R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 819642	NM_003977.4(AIP):c.159C>T (p.Ser53=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 819659	NM_003977.4(AIP):c.160C>T (p.Arg54Trp)	AIP, LOC130006206 (R54W)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 819687	NM_003977.4(AIP):c.161G>A (p.Arg54Gln)	AIP, LOC130006206 (R54Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1777021	NM_003977.4(AIP):c.163G>T (p.Ala55Ser)	AIP, LOC130006206 (A55S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1023228	NM_003977.4(AIP):c.163G>A (p.Ala55Thr)	AIP, LOC130006206 (A55T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1022659	NM_003977.4(AIP):c.164C>T (p.Ala55Val)	AIP, LOC130006206 (A55V)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GConflicting classifications of pathogenicity
Select item 877266	NM_003977.4(AIP):c.166C>T (p.Arg56Cys)	AIP, LOC130006206 (R56C)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41165	NM_003977.4(AIP):c.166C>A (p.Arg56Ser)	AIP, LOC130006206 (R56S)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma	Gnot provided
Select item 3223607	NM_003977.4(AIP):c.167G>T (p.Arg56Leu)	AIP, LOC130006206 (R56L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1777879	NM_003977.4(AIP):c.167G>C (p.Arg56Pro)	AIP, LOC130006206 (R56P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 964401	NM_003977.4(AIP):c.167G>A (p.Arg56His)	AIP, LOC130006206 (R56H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1035289	NM_003977.4(AIP):c.169G>A (p.Gly57Ser)	AIP, LOC130006206 (G57S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1376671	NM_003977.4(AIP):c.170G>A (p.Gly57Asp)	AIP, LOC130006206 (G57D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2897012	NM_003977.4(AIP):c.171C>G (p.Gly57=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1778701	NM_003977.4(AIP):c.171C>A (p.Gly57=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2834365	NM_003977.4(AIP):c.173A>G (p.Lys58Arg)	AIP, LOC130006206 (K58R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1375499	NM_003977.4(AIP):c.174G>T (p.Lys58Asn)	AIP, LOC130006206 (K58N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1078767	NM_003977.4(AIP):c.174G>A (p.Lys58=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 41166	NM_003977.4(AIP):c.174G>C (p.Lys58Asn)	AIP, LOC130006206 (K58N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 859123	NM_003977.4(AIP):c.175C>T (p.Pro59Ser)	AIP, LOC130006206 (P59S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1508933	NM_003977.4(AIP):c.178A>G (p.Met60Val)	AIP, LOC130006206 (M60V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2500438	NM_003977.4(AIP):c.182A>T (p.Glu61Val)	AIP, LOC130006206 (E2V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005479	NM_003977.4(AIP):c.182A>G (p.Glu61Gly)	AIP, LOC130006206 (E2G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1135824	NM_003977.4(AIP):c.183G>A (p.Glu61=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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