57010[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 408

<< First< Prev

Page of 5

	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 2533206	NM_206997.1(GPR152):c.266T>C (p.Leu89Pro)	CABP4, GPR152 (L89P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357316	NM_206997.1(GPR152):c.193C>T (p.Arg65Cys)	CABP4, GPR152 (R65C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282258	NM_206997.1(GPR152):c.191C>T (p.Thr64Met)	CABP4, GPR152 (T64M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 802691	NC_000011.10:g.67452544C>T	CABP4, GPR152 (G61R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2519515	NM_206997.1(GPR152):c.180T>A (p.His60Gln)	CABP4, GPR152 (H60Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2480630	NM_206997.1(GPR152):c.161C>T (p.Ala54Val)	CABP4, GPR152 (A54V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407519	NM_206997.1(GPR152):c.57G>C (p.Glu19Asp)	CABP4, GPR152 (E19D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1259072	NM_001300896.3(CABP4):c.-112-575A>C	CABP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 305638	NM_145200.5(CABP4):c.-27G>A	CABP4	Single nucleotide variant (5 prime UTR variant +2 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 1390659	NM_145200.5(CABP4):c.4A>G (p.Thr2Ala)	CABP4 (T2A)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 879532	NM_145200.5(CABP4):c.10G>C (p.Glu4Gln)	CABP4 (E4Q)	Single nucleotide variant (5 prime UTR variant +4 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1418547	NM_145200.5(CABP4):c.15G>T (p.Gln5His)	CABP4 (Q5H)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2038233	NM_145200.5(CABP4):c.21G>C (p.Arg7Ser)	CABP4 (R7S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1563022	NM_145200.5(CABP4):c.24G>A (p.Gly8=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2105254	NM_145200.5(CABP4):c.36A>G (p.Pro12=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1084483	NM_145200.5(CABP4):c.42G>C (p.Leu14=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1009632	NM_145200.5(CABP4):c.46A>G (p.Ile16Val)	CABP4 (I16V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1519143	NM_145200.5(CABP4):c.47T>C (p.Ile16Thr)	CABP4 (I16T)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 771570	NM_145200.5(CABP4):c.50G>C (p.Gly17Ala)	CABP4 (G17A)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 1017265	NM_145200.5(CABP4):c.52C>T (p.Arg18Cys)	CABP4 (R18C)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 305639	NM_145200.5(CABP4):c.53G>A (p.Arg18His)	CABP4 (R18H)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GBenign
Select item 1998207	NM_145200.5(CABP4):c.59A>G (p.Lys20Arg)	CABP4 (K20R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 866054	NM_145200.5(CABP4):c.65del (p.Pro22fs)	CABP4 (P22fs)	Deletion (5 prime UTR variant +3 more)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GPathogenic/Likely pathogenic
Select item 635475	NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs)	CABP4 (P21fs)	Indel (5 prime UTR variant +3 more)	Cone-rod synaptic disorder, congenital nonprogressive	GPathogenic
Select item 1428251	NM_145200.5(CABP4):c.64C>G (p.Pro22Ala)	CABP4 (P22A)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1522473	NM_145200.5(CABP4):c.65C>T (p.Pro22Leu)	CABP4 (P22L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1383967	NM_145200.5(CABP4):c.66dup (p.Ala23fs)	CABP4 (A23fs)	Duplication (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 1561026	NM_145200.5(CABP4):c.68C>T (p.Ala23Val)	CABP4 (A23V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1052243	NM_145200.5(CABP4):c.68C>G (p.Ala23Gly)	CABP4 (A23G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 305640	NM_145200.5(CABP4):c.69G>A (p.Ala23=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 284149	NM_145200.5(CABP4):c.72G>C (p.Gly24=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2086241	NM_145200.5(CABP4):c.73G>T (p.Val25Phe)	CABP4 (V25F)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2009714	NM_145200.5(CABP4):c.73G>A (p.Val25Ile)	CABP4 (V25I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1443543	NM_145200.5(CABP4):c.74T>C (p.Val25Ala)	CABP4 (V25A)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 190960	NM_145200.5(CABP4):c.81_82insA (p.Pro28fs)	CABP4 (P28fs)	Insertion (5 prime UTR variant +3 more)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GPathogenic
Select item 2087313	NM_145200.5(CABP4):c.86A>G (p.Lys29Arg)	CABP4 (K29R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2010290	NM_145200.5(CABP4):c.87G>A (p.Lys29=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 193501	NM_145200.5(CABP4):c.102G>A (p.Glu34=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2757065	NM_145200.5(CABP4):c.105C>T (p.Pro35=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1425952	NM_145200.5(CABP4):c.107C>G (p.Pro36Arg)	CABP4 (P36R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1108202	NM_145200.5(CABP4):c.108G>A (p.Pro36=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1123891	NM_145200.5(CABP4):c.109T>C (p.Leu37=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1381745	NM_145200.5(CABP4):c.113C>T (p.Thr38Ile)	CABP4 (T38I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1914504	NM_145200.5(CABP4):c.129G>A (p.Lys43=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1063898	NM_145200.5(CABP4):c.137G>C (p.Arg46Thr)	CABP4 (R46T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1933120	NM_145200.5(CABP4):c.139G>C (p.Gly47Arg)	CABP4 (G47R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1377093	NM_145200.5(CABP4):c.143T>A (p.Leu48His)	CABP4 (L48H)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2152116	NM_145200.5(CABP4):c.145C>T (p.Arg49Ter)	CABP4 (R49*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 1493272	NM_145200.5(CABP4):c.146G>A (p.Arg49Gln)	CABP4 (R49Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1981670	NM_145200.5(CABP4):c.154C>G (p.Arg52Gly)	CABP4 (R52G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1069487	NM_145200.5(CABP4):c.154C>T (p.Arg52Ter)	CABP4 (R52*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 193499	NM_145200.5(CABP4):c.155G>A (p.Arg52Gln)	CABP4 (R52Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 1052780	NM_145200.5(CABP4):c.177G>T (p.Gly59=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 193500	NM_145200.5(CABP4):c.187G>A (p.Gly63Ser)	CABP4 (G63S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 1528779	NM_145200.5(CABP4):c.192C>G (p.Pro64=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 166762	NM_145200.5(CABP4):c.192C>T (p.Pro64=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	Cone-rod synaptic disorder, congenital nonprogressive +2 more	GBenign
Select item 1059896	NM_145200.5(CABP4):c.193G>A (p.Glu65Lys)	CABP4 (E65K)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 305641	NM_145200.5(CABP4):c.194A>G (p.Glu65Gly)	CABP4 (E65G)	Single nucleotide variant (5 prime UTR variant +3 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 1047681	NM_145200.5(CABP4):c.200C>T (p.Pro67Leu)	CABP4 (P67L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1604054	NM_145200.5(CABP4):c.201G>A (p.Pro67=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1636318	NM_145200.5(CABP4):c.207C>T (p.Ser69=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 854494	NM_145200.5(CABP4):c.214A>C (p.Asn72His)	CABP4 (N72H)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1553935	NM_145200.5(CABP4):c.216C>T (p.Asn72=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2299322	NM_145200.5(CABP4):c.220C>A (p.Pro74Thr)	CABP4 (P74T)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 879533	NM_145200.5(CABP4):c.228T>G (p.Thr76=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2038276	NM_145200.5(CABP4):c.233_234del (p.Glu78fs)	CABP4 (E78fs)	Microsatellite (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 879898	NM_145200.5(CABP4):c.230G>C (p.Gly77Ala)	CABP4 (G77A)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +2 more	GUncertain significance
Select item 1005202	NM_145200.5(CABP4):c.233A>T (p.Glu78Val)	CABP4 (E78V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2798294	NM_145200.5(CABP4):c.234G>A (p.Glu78=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 972666	NM_145200.5(CABP4):c.239C>T (p.Pro80Leu)	CABP4 (P80L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2907602	NM_145200.5(CABP4):c.240G>C (p.Pro80=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 305642	NM_145200.5(CABP4):c.242C>T (p.Ala81Val)	CABP4 (A81V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1585162	NM_145200.5(CABP4):c.243G>A (p.Ala81=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1117586	NM_145200.5(CABP4):c.246C>T (p.Gly82=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 879899	NM_145200.5(CABP4):c.246C>A (p.Gly82=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GConflicting classifications of pathogenicity
Select item 1431577	NM_145200.5(CABP4):c.247G>C (p.Ala83Pro)	CABP4 (A83P)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1346543	NM_145200.5(CABP4):c.247G>A (p.Ala83Thr)	CABP4 (A83T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1465052	NM_145200.5(CABP4):c.250C>A (p.Pro84Thr)	CABP4 (P84T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2004997	NM_145200.5(CABP4):c.253C>T (p.Pro85Ser)	CABP4 (P85S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 840595	NM_145200.5(CABP4):c.256G>A (p.Ala86Thr)	CABP4 (A86T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1378511	NM_145200.5(CABP4):c.259T>A (p.Ser87Thr)	CABP4 (S87T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1464625	NM_145200.5(CABP4):c.260C>G (p.Ser87Cys)	CABP4 (S87C)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 1435433	NM_145200.5(CABP4):c.260C>T (p.Ser87Phe)	CABP4 (S87F)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2166384	NM_145200.5(CABP4):c.262C>T (p.Pro88Ser)	CABP4 (P88S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1574210	NM_145200.5(CABP4):c.264T>C (p.Pro88=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 941394	NM_145200.5(CABP4):c.269C>T (p.Pro90Leu)	CABP4 (P90L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 938532	NM_145200.5(CABP4):c.270G>A (p.Pro90=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2022699	NM_145200.5(CABP4):c.276T>G (p.Ser92=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 837484	NM_145200.5(CABP4):c.280C>T (p.Arg94Cys)	CABP4 (R94C)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 840932	NM_145200.5(CABP4):c.281G>C (p.Arg94Pro)	CABP4 (R94P)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 305643	NM_145200.5(CABP4):c.281G>A (p.Arg94His)	CABP4 (R94H)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2204626	NM_145200.5(CABP4):c.284A>G (p.Gln95Arg)	CABP4 (Q95R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1184508	NM_145200.5(CABP4):c.292C>T (p.Arg98Ter)	CABP4 (R98*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1511587	NM_145200.5(CABP4):c.293G>A (p.Arg98Gln)	CABP4 (R98Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance

<< First< Prev

Page of 5