ClinVar for MedGen (Select 462262) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 163

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920614	NM_033100.4(CDHR1):c.41T>A (p.Leu14Gln)	CDHR1 (L14Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 2920613	NM_033100.4(CDHR1):c.1729G>T (p.Gly577Ter)	CDHR1 (G577*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 15	GLikely pathogenic
Select item 2136899	NM_033100.4(CDHR1):c.296A>G (p.Glu99Gly)	CDHR1 (E99G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15 +1 more	GUncertain significance
Select item 1299325	NM_033100.4(CDHR1):c.2101del (p.Ala701fs)	CDHR1 (A701fs)	Deletion (frameshift variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 1297147	NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)	CDHR1 (Q310*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 15 +1 more	GLikely pathogenic
Select item 1213967	NM_033100.4(CDHR1):c.10del (p.Cys4fs)	CDHR1 (C4fs)	Deletion (frameshift variant)	Cone-rod dystrophy 15	GLikely pathogenic
Select item 1213966	NM_033100.4(CDHR1):c.1219C>T (p.Arg407Ter)	CDHR1 (R407*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 15 +1 more	GPathogenic
Select item 1209663	NM_000329.3(RPE65):c.462G>C (p.Lys154Asn)	RPE65 (K154N)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15 +2 more	GUncertain significance
Select item 1192715	NM_001171971.3(CDHR1):c.2145G>A (p.Leu715=)	CDHR1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 15 +1 more	GBenign
Select item 1010713	NM_033100.4(CDHR1):c.1320+4G>C	CDHR1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 931851	NM_033100.4(CDHR1):c.616del (p.His206fs)	CDHR1 (H206fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 930756	NM_033100.4(CDHR1):c.1220G>A (p.Arg407Gln)	CDHR1 (R407Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930755	NM_033100.4(CDHR1):c.1114C>T (p.Pro372Ser)	CDHR1 (P372S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 930441	NM_033100.4(CDHR1):c.2051_2056del (p.Arg684_Ser685del)	CDHR1	Deletion (inframe_deletion +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 880500	NM_033100.4(CDHR1):c.151+6T>C	CDHR1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 880499	NM_033100.4(CDHR1):c.44G>T (p.Arg15Leu)	CDHR1 (R15L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15 +1 more	GConflicting classifications of pathogenicity
Select item 879916	NM_033100.4(CDHR1):c.*1426G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 879915	NM_033100.4(CDHR1):c.*1360C>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GBenign
Select item 879914	NM_033100.4(CDHR1):c.*1269G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 879913	NM_033100.4(CDHR1):c.*1202G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 879871	NM_033100.4(CDHR1):c.*434G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 879870	NM_033100.4(CDHR1):c.*403G>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 879718	NM_033100.4(CDHR1):c.720G>C (p.Gln240His)	CDHR1 (Q240H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879548	NM_033100.4(CDHR1):c.*1055C>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 879502	NM_033100.4(CDHR1):c.*390C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 879455	NM_033100.4(CDHR1):c.2105T>A (p.Val702Glu)	CDHR1 (V702E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 879393	NM_033100.4(CDHR1):c.1354T>G (p.Phe452Val)	CDHR1 (F452V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879392	NM_033100.4(CDHR1):c.1321-14T>A	CDHR1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 879391	NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser)	CDHR1 (N396S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878809	NM_033100.4(CDHR1):c.938G>A (p.Arg313Lys)	CDHR1 (R313K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 878204	NM_033100.4(CDHR1):c.*3851C>G	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 878203	NM_033100.4(CDHR1):c.*3772G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 878202	NM_033100.4(CDHR1):c.*3768G>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GBenign
Select item 878201	NM_033100.4(CDHR1):c.*3715C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GLikely benign
Select item 878200	NM_033100.4(CDHR1):c.*3504A>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GBenign
Select item 878199	NM_033100.4(CDHR1):c.*3498G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 878198	NM_033100.4(CDHR1):c.*3086C>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 878137	NM_033100.4(CDHR1):c.*2150A>G	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 878136	NM_033100.4(CDHR1):c.*1915C>G	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15 +1 more	GBenign/Likely benign
Select item 878091	NM_033100.4(CDHR1):c.*923G>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 877989	NM_033100.4(CDHR1):c.1911C>T (p.Ser637=)	CDHR1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 877926	NM_033100.4(CDHR1):c.*785G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 877925	NM_033100.4(CDHR1):c.*767C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GBenign
Select item 877830	NM_033100.4(CDHR1):c.1853A>G (p.Asn618Ser)	CDHR1 (N618S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 877829	NM_033100.4(CDHR1):c.1848C>T (p.Pro616=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877828	NM_033100.4(CDHR1):c.1554-3C>A	CDHR1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 877770	NM_033100.4(CDHR1):c.784-4C>T	CDHR1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877168	NM_033100.4(CDHR1):c.*3061G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GLikely benign
Select item 877167	NM_033100.4(CDHR1):c.*3049T>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 877166	NM_033100.4(CDHR1):c.*3042A>G	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 877165	NM_033100.4(CDHR1):c.*3020G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GBenign
Select item 877164	NM_033100.4(CDHR1):c.*2979C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 877163	NM_033100.4(CDHR1):c.*2870T>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 877162	NM_033100.4(CDHR1):c.*2798G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15 +1 more	GBenign
Select item 877102	NM_033100.4(CDHR1):c.*1770G>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 877101	NM_033100.4(CDHR1):c.*1571C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 877100	NM_033100.4(CDHR1):c.*1518G>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 874186	NM_000329.3(RPE65):c.1238G>A (p.Arg413His)	RPE65 (R413H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 859639	NM_033100.4(CDHR1):c.784-3G>A	CDHR1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 835998	NM_033100.4(CDHR1):c.1058T>C (p.Phe353Ser)	CDHR1 (F353S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 812262	NM_033100.4(CDHR1):c.1485+2T>G	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 802597	NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe)	CDHR1 (V733F)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 15 +1 more	GUncertain significance
Select item 802596	NM_033100.4(CDHR1):c.1782+1del	CDHR1	Deletion (splice donor variant)	Cone-rod dystrophy 15	GPathogenic
Select item 802595	NM_033100.4(CDHR1):c.862+4A>C	CDHR1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 15 +1 more	GUncertain significance
Select item 802594	NM_033100.4(CDHR1):c.348+5G>T	CDHR1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 772946	NM_033100.4(CDHR1):c.2546AGA[2] (p.Lys851del)	CDHR1 (K851del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GLikely benign
Select item 587383	NM_033100.4(CDHR1):c.1132C>T (p.Arg378Trp)	CDHR1 (R378W)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15 +1 more	GConflicting classifications of pathogenicity
Select item 444229	NM_033100.4(CDHR1):c.628G>A (p.Val210Met)	CDHR1 (V210M)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15 +1 more	GUncertain significance
Select item 301311	NM_033100.4(CDHR1):c.*2577G>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301310	NM_033100.4(CDHR1):c.*2560C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301309	NM_033100.4(CDHR1):c.*2493C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301308	NM_033100.4(CDHR1):c.*2428G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301307	NM_033100.4(CDHR1):c.*2357G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301306	NM_033100.4(CDHR1):c.*2351G>A	CDHR1	Single nucleotide variant (intron variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301305	NM_033100.4(CDHR1):c.*2296G>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301304	NM_033100.4(CDHR1):c.*2226C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15 +1 more	GLikely benign
Select item 301303	NM_033100.4(CDHR1):c.*2019A>G	CDHR1	Single nucleotide variant (intron variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301300	NM_033100.4(CDHR1):c.*1914C>G	CDHR1	Single nucleotide variant (intron variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301299	NM_033100.4(CDHR1):c.*1819C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301298	NM_033100.4(CDHR1):c.*1737C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301297	NM_033100.4(CDHR1):c.*1694T>C	CDHR1	Single nucleotide variant (intron variant +1 more)	Cone-rod dystrophy 15	GLikely benign
Select item 301295	NM_033100.4(CDHR1):c.*1487C>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301294	NM_033100.4(CDHR1):c.*1467T>A	CDHR1	Single nucleotide variant (intron variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301292	NM_033100.4(CDHR1):c.*1356A>G	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301291	NM_033100.4(CDHR1):c.*1260C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301290	NM_033100.4(CDHR1):c.*1252C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301289	NM_033100.4(CDHR1):c.*1174G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301288	NM_033100.4(CDHR1):c.*1082A>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301286	NM_033100.4(CDHR1):c.*1008A>G	CDHR1	Single nucleotide variant (intron variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301285	NM_033100.4(CDHR1):c.*937C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301284	NM_033100.4(CDHR1):c.*935C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301283	NM_033100.4(CDHR1):c.*927T>C	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301282	NM_033100.4(CDHR1):c.*914C>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301279	NM_033100.4(CDHR1):c.*878C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301277	NM_033100.4(CDHR1):c.*838G>T	CDHR1	Single nucleotide variant (intron variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301276	NM_033100.4(CDHR1):c.*631C>G	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301274	NM_033100.4(CDHR1):c.*583G>A	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301268	NM_033100.4(CDHR1):c.*305C>G	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301267	NM_033100.4(CDHR1):c.*269C>T	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance
Select item 301265	NM_033100.4(CDHR1):c.*242T>G	CDHR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cone-rod dystrophy 15	GUncertain significance

<< First< Prev

Page of 2