"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CABP4"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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)	Inborn genetic diseases +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 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
Select item 938739	NM_145200.5(CABP4):c.296A>T (p.His99Leu)	CABP4 (H99L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 770051	NM_145200.5(CABP4):c.299G>A (p.Arg100His)	CABP4 (R100H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 305644	NM_145200.5(CABP4):c.309C>T (p.Ser103=)	CABP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305645	NM_145200.5(CABP4):c.315C>T (p.His105=)	CABP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305646	NM_145200.5(CABP4):c.318C>T (p.Asp106=)	CABP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2146140	NM_145200.5(CABP4):c.319G>A (p.Ala107Thr)	CABP4 (A107T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1411880	NM_145200.5(CABP4):c.322G>A (p.Ala108Thr)	CABP4 (A108T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1013856	NM_145200.5(CABP4):c.326A>G (p.Gln109Arg)	CABP4 (Q109R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 951538	NM_145200.5(CABP4):c.333A>G (p.Thr111=)	CABP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2006829	NM_145200.5(CABP4):c.339dup (p.Pro114fs)	CABP4 (P114fs)	Duplication (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1114126	NM_145200.5(CABP4):c.336C>T (p.Tyr112=)	CABP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1435896	NM_145200.5(CABP4):c.337G>A (p.Gly113Arg)	CABP4 (G113R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 721621	NM_145200.5(CABP4):c.339G>T (p.Gly113=)	CABP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1516812	NM_145200.5(CABP4):c.340C>A (p.Pro114Thr)	CABP4 (P114T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1402671	NM_145200.5(CABP4):c.349A>G (p.Asn117Asp)	CABP4 (N117D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1411421	NM_145200.5(CABP4):c.352C>A (p.Arg118=)	CABP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 305647	NM_145200.5(CABP4):c.360C>T (p.Phe120=)	CABP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1517072	NM_145200.5(CABP4):c.361G>C (p.Gly121Arg)	CABP4 (G121R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1406313	NM_145200.5(CABP4):c.361G>A (p.Gly121Arg)	CABP4 (G121R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1345948	NM_145200.5(CABP4):c.366+1G>T	CABP4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2098095	NM_145200.5(CABP4):c.366+7T>C	CABP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2130470	NM_145200.5(CABP4):c.366+10G>C	CABP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3017781	NM_145200.5(CABP4):c.366+11A>G	CABP4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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