ClinVar for MedGen (Select 874422) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1452937	NM_145200.5(CABP4):c.625C>T (p.Arg209Ter)	CABP4 (R104* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 879999	NM_145200.5(CABP4):c.*2004G>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879998	NM_145200.5(CABP4):c.*2000A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879997	NM_145200.5(CABP4):c.*1957A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879996	NM_145200.5(CABP4):c.*1873C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879940	NM_145200.5(CABP4):c.*408C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879939	NM_145200.5(CABP4):c.*394T>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879938	NM_145200.5(CABP4):c.*295G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879899	NM_145200.5(CABP4):c.246C>A (p.Gly82=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	CABP4-related disorder +2 more	GConflicting classifications of pathogenicity
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 879696	NM_145200.5(CABP4):c.*2958T>C	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879695	NM_145200.5(CABP4):c.*2905G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879694	NM_145200.5(CABP4):c.*2896T>C	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879693	NM_145200.5(CABP4):c.*2886T>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879692	NM_145200.5(CABP4):c.*2860A>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879691	NM_145200.5(CABP4):c.*2836C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879633	NM_145200.5(CABP4):c.*1758G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879632	NM_145200.5(CABP4):c.*1662G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879631	NM_145200.5(CABP4):c.*1636A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879630	NM_145200.5(CABP4):c.*1510T>C	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879587	NM_145200.5(CABP4):c.*62A>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879586	NM_145200.5(CABP4):c.799+7C>T	CABP4	Single nucleotide variant (intron variant)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 879533	NM_145200.5(CABP4):c.228T>G (p.Thr76=)	CABP4	Single nucleotide variant (5 prime UTR variant +3 more)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GConflicting classifications of pathogenicity
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 878241	NM_145200.5(CABP4):c.*2716T>C	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GLikely benign
Select item 878240	NM_145200.5(CABP4):c.*2357A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 878178	NM_145200.5(CABP4):c.*1413C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 878177	NM_145200.5(CABP4):c.*1402G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 878176	NM_145200.5(CABP4):c.*1392T>C	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GLikely benign
Select item 878175	NM_145200.5(CABP4):c.*1190T>C	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 877963	NM_145200.5(CABP4):c.415G>A (p.Glu139Lys)	CABP4 (E34K +1 more)	Single nucleotide variant (missense variant)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GUncertain significance
Select item 877962	NM_145200.5(CABP4):c.397G>A (p.Glu133Lys)	CABP4 (E133K +1 more)	Single nucleotide variant (missense variant)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 877200	NM_145200.5(CABP4):c.*2186C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GLikely benign
Select item 877199	NM_145200.5(CABP4):c.*2061C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 877144	NM_145200.5(CABP4):c.*1158A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 877143	NM_145200.5(CABP4):c.*1063G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 877142	NM_145200.5(CABP4):c.*702C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	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 854494	NM_145200.5(CABP4):c.214A>C (p.Asn72His)	CABP4 (N72H)	Single nucleotide variant (5 prime UTR variant +3 more)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GConflicting classifications of pathogenicity
Select item 802691	NM_206997.1(GPR152):c.181G>A (p.Gly61Arg)	CABP4, GPR152 (G61R)	Single nucleotide variant (missense variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 707011	NM_145200.5(CABP4):c.747C>T (p.Asp249=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 438047	NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)	CABP4 (R225* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 305718	NM_145200.5(CABP4):c.*3043C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305717	NM_145200.5(CABP4):c.*2709G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305716	NM_145200.5(CABP4):c.*2679A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 305715	NM_145200.5(CABP4):c.*2668G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305714	NM_145200.5(CABP4):c.*2583C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305713	NM_145200.5(CABP4):c.*2438G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305712	NM_145200.5(CABP4):c.*2331A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305711	NM_145200.5(CABP4):c.*2327G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 305708	NM_145200.5(CABP4):c.*2195G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 305707	NM_145200.5(CABP4):c.*2187G>C	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305705	NM_145200.5(CABP4):c.*2098C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305704	NM_145200.5(CABP4):c.*2089T>C	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305703	NM_145200.5(CABP4):c.*2065T>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305702	NM_145200.5(CABP4):c.*1939A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305701	NM_145200.5(CABP4):c.*1933C>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305699	NM_145200.5(CABP4):c.*1859C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 305691	NM_145200.5(CABP4):c.*1857T>C	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 305683	NM_145200.5(CABP4):c.*1827C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305681	NM_145200.5(CABP4):c.*1697A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 305680	NM_145200.5(CABP4):c.*1527C>T	CABP4, LOC130006202	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305679	NM_145200.5(CABP4):c.*1435G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 305678	NM_145200.5(CABP4):c.*1390C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305677	NM_145200.5(CABP4):c.*1291A>G	CABP4, LOC130006201	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305676	NM_145200.5(CABP4):c.*1285G>A	CABP4, LOC130006201	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305675	NM_145200.5(CABP4):c.*1223G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305674	NM_145200.5(CABP4):c.*1117C>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305673	NM_145200.5(CABP4):c.*1040C>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305672	NM_145200.5(CABP4):c.*963C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 305671	NM_145200.5(CABP4):c.*876G>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 305670	NM_145200.5(CABP4):c.*683A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305669	NM_145200.5(CABP4):c.*681A>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305668	NM_145200.5(CABP4):c.*669T>C	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305666	NM_145200.5(CABP4):c.*324C>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305665	NM_145200.5(CABP4):c.*262C>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305664	NM_145200.5(CABP4):c.*120T>A	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GBenign
Select item 305663	NM_145200.5(CABP4):c.*119T>G	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 305662	NM_145200.5(CABP4):c.*26C>T	CABP4	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305661	NM_145200.5(CABP4):c.816C>T (p.Leu272=)	CABP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305660	NM_145200.5(CABP4):c.799+15C>T	CABP4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 305659	NM_145200.5(CABP4):c.652-11G>A	CABP4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 305658	NM_145200.5(CABP4):c.651+15G>A	CABP4	Single nucleotide variant (intron variant)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GConflicting classifications of pathogenicity
Select item 305657	NM_145200.5(CABP4):c.547G>C (p.Gly183Arg)	CABP4 (G183R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305656	NM_145200.5(CABP4):c.541+14C>T	CABP4	Single nucleotide variant (intron variant)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305655	NM_145200.5(CABP4):c.541+8A>C	CABP4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 305654	NM_145200.5(CABP4):c.541+7C>G	CABP4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 305653	NM_145200.5(CABP4):c.524A>G (p.Gln175Arg)	CABP4 (Q175R +1 more)	Single nucleotide variant (missense variant)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305652	NM_145200.5(CABP4):c.522G>A (p.Ser174=)	CABP4	Single nucleotide variant (synonymous variant)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GConflicting classifications of pathogenicity
Select item 305651	NM_145200.5(CABP4):c.455G>A (p.Arg152Gln)	CABP4 (R152Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 305650	NM_145200.5(CABP4):c.432C>T (p.Asp144=)	CABP4	Single nucleotide variant (synonymous variant)	Cone-rod synaptic disorder, congenital nonprogressive	GUncertain significance
Select item 305649	NM_145200.5(CABP4):c.398-8C>T	CABP4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305648	NM_145200.5(CABP4):c.367-8C>T	CABP4 (P15L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305647	NM_145200.5(CABP4):c.360C>T (p.Phe120=)	CABP4	Single nucleotide variant (5 prime UTR variant +2 more)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GBenign/Likely benign
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 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 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

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