ClinVar for MedGen (Select 208903) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341500	NM_001163692.2(UBAP1L):c.910-7G>A	UBAP1L	Single nucleotide variant (intron variant)	Retinal dystrophy	GPathogenic
Select item 3341499	NM_001163692.2(UBAP1L):c.710del (p.Pro237fs)	UBAP1L (P237fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3341498	NM_001163692.2(UBAP1L):c.634_644del (p.Ser212fs)	UBAP1L (S212fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3341497	NM_001163692.2(UBAP1L):c.121-2A>C	UBAP1L	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 3252069	NM_003430.4(ZNF91):c.1638C>G (p.Tyr546Ter)	ZNF91 (Y514* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GUncertain significance
Select item 3233624	NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)	CRB1 (D452Y +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic/Likely pathogenic
Select item 3028893	NM_201548.5(CERKL):c.1013G>A (p.Arg338Gln)	CERKL (R225Q +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028892	NM_201548.5(CERKL):c.1370A>G (p.Asn457Ser)	CERKL (N344S +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028891	NM_201548.5(CERKL):c.1393A>G (p.Thr465Ala)	CERKL (T352A +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028890	NM_000329.3(RPE65):c.377T>C (p.Val126Ala)	RPE65 (V126A +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028889	NM_201548.5(CERKL):c.1442A>G (p.Asn481Ser)	CERKL (N368S +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028888	NM_201548.5(CERKL):c.1466C>A (p.Thr489Asn)	CERKL (T376N +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028887	NM_201548.5(CERKL):c.1579_1596dup (p.Lys532_Ter533insGluGluMetIleProLys)	CERKL, ITGA4	Duplication (inframe_insertion +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028886	NM_006343.3(MERTK):c.2973C>T (p.Ser991=)	MERTK	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028885	NM_006343.3(MERTK):c.2796T>C (p.Asn932=)	MERTK	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028884	NM_006343.3(MERTK):c.2654C>T (p.Ala885Val)	MERTK (A885V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028883	NM_006343.3(MERTK):c.2380G>T (p.Ala794Ser)	MERTK (A794S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028882	NM_006343.3(MERTK):c.2354C>T (p.Ala785Val)	MERTK (A785V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028881	NM_006343.3(MERTK):c.2051T>C (p.Leu684Pro)	MERTK (L684P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028880	NM_000329.3(RPE65):c.575T>G (p.Ile192Ser)	RPE65 (I100S +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028879	NM_006343.3(MERTK):c.1546G>A (p.Gly516Arg)	MERTK (G516R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028878	NM_006343.3(MERTK):c.1490G>A (p.Gly497Asp)	MERTK (G497D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028877	NM_006343.3(MERTK):c.1358A>G (p.His453Arg)	MERTK (H453R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028876	NM_006343.3(MERTK):c.1341G>T (p.Arg447=)	MERTK	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028875	NM_000329.3(RPE65):c.619G>C (p.Val207Leu)	RPE65 (V115L +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028874	NM_006343.3(MERTK):c.1232A>G (p.Lys411Arg)	MERTK (K411R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028873	NM_006343.3(MERTK):c.1229C>T (p.Thr410Ile)	MERTK (T410I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely benign
Select item 3028872	NM_006343.3(MERTK):c.989G>A (p.Gly330Asp)	LOC112806037, MERTK (G330D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028871	NM_006343.3(MERTK):c.978G>A (p.Pro326=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028870	NM_006343.3(MERTK):c.343T>G (p.Cys115Gly)	MERTK (C115G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028869	NM_014014.5(SNRNP200):c.294G>A (p.Val98=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028868	NM_014014.5(SNRNP200):c.728A>G (p.Asn243Ser)	SNRNP200 (N243S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028867	NM_014014.5(SNRNP200):c.1128G>A (p.Arg376=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3028866	NM_014014.5(SNRNP200):c.1249dup (p.Thr417fs)	SNRNP200 (T417fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028865	NM_014014.5(SNRNP200):c.1376A>T (p.Glu459Val)	SNRNP200 (E459V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028864	NM_014014.5(SNRNP200):c.1703A>G (p.Glu568Gly)	SNRNP200 (E568G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028863	NM_014014.5(SNRNP200):c.1981G>A (p.Val661Ile)	SNRNP200 (V661I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028862	NM_000329.3(RPE65):c.709C>T (p.Pro237Ser)	RPE65 (P145S +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028861	NM_014014.5(SNRNP200):c.2262G>A (p.Glu754=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028860	NM_014014.5(SNRNP200):c.2277A>G (p.Thr759=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3028859	NM_014014.5(SNRNP200):c.2443C>G (p.Leu815Val)	SNRNP200 (L815V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028858	NM_014014.5(SNRNP200):c.2769C>G (p.Ala923=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028857	NM_000329.3(RPE65):c.725G>A (p.Ser242Asn)	RPE65 (S150N +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028856	NM_014014.5(SNRNP200):c.2800A>C (p.Thr934Pro)	SNRNP200 (T934P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028855	NM_014014.5(SNRNP200):c.4157C>T (p.Ala1386Val)	SNRNP200 (A1386V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028854	NM_014014.5(SNRNP200):c.4487A>G (p.Asn1496Ser)	SNRNP200 (N1496S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028853	NM_014014.5(SNRNP200):c.5096del (p.Glu1699fs)	LOC126806272, SNRNP200 (E1699fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028852	NM_014014.5(SNRNP200):c.5205C>T (p.His1735=)	LOC126806272, SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028851	NM_014014.5(SNRNP200):c.5288G>A (p.Arg1763His)	LOC126806272, SNRNP200 (R1763H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028850	NM_014014.5(SNRNP200):c.5933G>T (p.Gly1978Val)	SNRNP200 (G1978V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028849	NM_014014.5(SNRNP200):c.6216G>A (p.Lys2072=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3028848	NM_001201543.2(FAM161A):c.880C>T (p.Pro294Ser)	FAM161A (P294S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028847	NM_001201543.2(FAM161A):c.908A>G (p.Lys303Arg)	FAM161A (K303R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028846	NM_001201543.2(FAM161A):c.1197T>C (p.Pro399=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028845	NM_001201543.2(FAM161A):c.1214G>C (p.Gly405Ala)	FAM161A (G405A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely benign
Select item 3028844	NM_000329.3(RPE65):c.1289C>A (p.Pro430His)	RPE65 (P338H +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028843	NM_001029883.3(PCARE):c.100G>A (p.Gly34Ser)	PCARE (G34S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028842	NM_001029883.3(PCARE):c.116G>T (p.Gly39Val)	PCARE (G39V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028841	NM_001029883.3(PCARE):c.294C>G (p.Thr98=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028840	NM_001029883.3(PCARE):c.351G>C (p.Lys117Asn)	PCARE (K117N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028839	NM_001029883.3(PCARE):c.397G>T (p.Glu133Ter)	PCARE (E133*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3028838	NM_001029883.3(PCARE):c.568del (p.Tyr190fs)	PCARE (Y190fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3028837	NM_001029883.3(PCARE):c.570T>G (p.Tyr190Ter)	PCARE (Y190*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3028836	NM_001029883.3(PCARE):c.571_572insAGGCTTACACCAGCAGGCT (p.Leu191fs)	PCARE (L191fs)	Insertion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3028835	NM_001029883.3(PCARE):c.668T>C (p.Leu223Pro)	PCARE (L223P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028834	NM_001029883.3(PCARE):c.824dup (p.Ser276fs)	PCARE (S276fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3028833	NM_001029883.3(PCARE):c.852A>G (p.Thr284=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028832	NM_000329.3(RPE65):c.1408C>T (p.Pro470Ser)	RPE65 (P378S +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028831	NM_001029883.3(PCARE):c.1218A>T (p.Ser406=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028830	NM_001029883.3(PCARE):c.1405C>T (p.Leu469Phe)	PCARE (L469F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028829	NM_001029883.3(PCARE):c.1490T>G (p.Met497Arg)	PCARE (M497R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028828	NM_000329.3(RPE65):c.1420T>G (p.Ser474Ala)	RPE65 (S382A +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028827	NM_001029883.3(PCARE):c.1757G>A (p.Arg586Lys)	PCARE (R586K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028826	NM_001029883.3(PCARE):c.2092A>T (p.Lys698Ter)	PCARE (K698*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028825	NM_001029883.3(PCARE):c.2400C>G (p.Pro800=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028824	NM_001029883.3(PCARE):c.2482G>A (p.Glu828Lys)	PCARE (E828K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028823	NM_001029883.3(PCARE):c.2765T>C (p.Leu922Pro)	PCARE (L922P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028822	NM_000329.3(RPE65):c.1484C>A (p.Ala495Glu)	RPE65 (A403E +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028821	NM_001029883.3(PCARE):c.2841C>T (p.Ala947=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028820	NM_001029883.3(PCARE):c.2980G>A (p.Ala994Thr)	PCARE (A994T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028819	NM_001029883.3(PCARE):c.2993G>T (p.Arg998Met)	PCARE (R998M)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028818	NM_015047.3(EMC1):c.2317T>A (p.Ser773Thr)	EMC1, EMC1-AS1 (S751T +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028817	NM_001029883.3(PCARE):c.3216C>A (p.Ser1072Arg)	PCARE (S1072R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028816	NM_001029883.3(PCARE):c.3239C>T (p.Ala1080Val)	PCARE (A1080V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028815	NM_001029883.3(PCARE):c.3316G>T (p.Glu1106Ter)	PCARE (E1106*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028814	NM_001029883.3(PCARE):c.3358_3359del (p.His1120fs)	PCARE (H1120fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3028813	NM_001029883.3(PCARE):c.3526C>T (p.Gln1176Ter)	PCARE (Q1176*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3028812	NM_001029883.3(PCARE):c.3567C>T (p.Phe1189=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028811	NM_001029883.3(PCARE):c.3678G>A (p.Glu1226=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028810	NM_001029883.3(PCARE):c.3696C>A (p.Asp1232Glu)	PCARE (D1232E)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028809	NM_017739.4(POMGNT1):c.89C>T (p.Thr30Ile)	POMGNT1 (T30I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028808	NM_001029883.3(PCARE):c.3807C>T (p.Thr1269=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028807	NM_015662.3(IFT172):c.4C>A (p.His2Asn)	IFT172 (H2N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028806	NM_015662.3(IFT172):c.273T>C (p.Tyr91=)	IFT172	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028805	NM_015662.3(IFT172):c.571-1G>A	IFT172	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 3028804	NM_015662.3(IFT172):c.618A>G (p.Ala206=)	IFT172	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028803	NM_015662.3(IFT172):c.1497G>T (p.Lys499Asn)	IFT172 (K499N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028802	NM_015662.3(IFT172):c.1805C>G (p.Ala602Gly)	IFT172 (A580G +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028801	NM_015662.3(IFT172):c.1834A>T (p.Thr612Ser)	IFT172 (T590S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028800	NM_015662.3(IFT172):c.1969G>A (p.Ala657Thr)	IFT172 (A635T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic

<< First< Prev

Page of 10