ClinVar for MedGen (Select 78754) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068843	NM_206933.4(USH2A):c.7045dup (p.Trp2349fs)	USH2A (W2349fs)	Duplication (frameshift variant)	Usher syndrome	GPathogenic
Select item 3063863	NM_032119.4(ADGRV1):c.10570C>T (p.Gln3524Ter)	ADGRV1 (Q3524*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 3024556	NM_173477.5(USH1G):c.1382+2_1382+3del	OTOP2, USH1G	Microsatellite (splice donor variant)	Usher syndrome	GLikely pathogenic
Select item 2577521	NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)	MYO7A (P633fs +1 more)	Duplication (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 2577502	NM_206933.4(USH2A):c.9315del (p.Val3106fs)	USH2A (V3106fs)	Deletion (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 2577501	NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)	USH2A (C768R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2577500	NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)	USH2A (C4808Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2577146	NM_022124.6(CDH23):c.5067+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Usher syndrome	GLikely pathogenic
Select item 2503872	NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)	USH2A, USH2A-AS1 (K1181fs)	Indel (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 2503101	NM_001347.4(DGKQ):c.200C>T (p.Thr67Met)	DGKQ, LOC129991967 (T67M)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance
Select item 2503100	NM_006044.4(HDAC6):c.1121C>G (p.Ala374Gly)	HDAC6 (A374G +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GUncertain significance
Select item 2503099	NM_000092.5(COL4A4):c.2624del (p.Pro875fs)	COL4A4 (P875fs)	Deletion (frameshift variant)	Usher syndrome	GUncertain significance
Select item 2503098	NM_206933.4(USH2A):c.11639C>A (p.Ser3880Ter)	USH2A (S3880*)	Single nucleotide variant (nonsense)	Usher syndrome	GPathogenic
Select item 2503097	NM_173477.5(USH1G):c.956_960delinsA (p.Arg319fs)	USH1G (R216fs +1 more)	Indel (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503096	NM_001195263.2(PDZD7):c.2319_2328del (p.Ser774fs)	PDZD7 (S774fs)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503095	NM_001195263.2(PDZD7):c.2330_2331del (p.Arg777fs)	PDZD7 (R777fs)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503094	NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val)	USH2A, USH2A-AS2 (D1763V)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic
Select item 2503093	NM_032119.4(ADGRV1):c.14329C>T (p.Gln4777Ter)	ADGRV1 (Q4777*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503092	NM_015404.4(WHRN):c.1817del (p.Asp606fs)	WHRN (D223fs +2 more)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503091	NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)	MYO7A (W1923* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome	GPathogenic
Select item 2503090	NM_032119.4(ADGRV1):c.227del (p.Gly76fs)	ADGRV1 (G76fs)	Deletion (frameshift variant +1 more)	Usher syndrome	GPathogenic
Select item 2503089	NM_032119.4(ADGRV1):c.9439C>T (p.Arg3147Ter)	ADGRV1 (R3147*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503088	NM_206933.4(USH2A):c.7871del (p.Pro2624fs)	USH2A (P2624fs)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503087	NM_206933.4(USH2A):c.9945dup (p.Asn3316fs)	USH2A (N3316fs)	Duplication (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503086	NM_206933.4(USH2A):c.956G>T (p.Cys319Phe)	USH2A (C319F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic
Select item 2503085	NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter)	PCDH15 (C562* +5 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503084	NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs)	SLC9B1 (L447fs)	Microsatellite (frameshift variant +1 more)	Usher syndrome	GPathogenic
Select item 2503083	NM_032119.4(ADGRV1):c.11938C>T (p.Gln3980Ter)	ADGRV1 (Q3980*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503082	NM_022124.6(CDH23):c.2878dup (p.Glu960fs)	CDH23 (E960fs)	Duplication (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503081	NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter)	USH2A (L1556*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2503080	NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)	USH2A (C4997Y)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic
Select item 2503079	NM_206933.4(USH2A):c.7795C>T (p.Gln2599Ter)	USH2A (Q2599*)	Single nucleotide variant (nonsense)	Usher syndrome	GPathogenic
Select item 2503078	NM_206933.4(USH2A):c.5588dup (p.Met1863fs)	USH2A, USH2A-AS2 (M1863fs)	Duplication (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 2503077	NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter)	USH2A (W4200*)	Single nucleotide variant (nonsense)	Usher syndrome	GPathogenic
Select item 2503076	NM_033056.4(PCDH15):c.5861C>G (p.Ser1954Ter)	PCDH15 (S1885* +8 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503075	NM_001384140.1(PCDH15):c.705+5G>A	PCDH15	Single nucleotide variant (intron variant)	Usher syndrome	GLikely pathogenic
Select item 2503074	NM_000260.4(MYO7A):c.44_51dup (p.Gln18fs)	MYO7A (Q18fs +1 more)	Duplication (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503073	NM_032119.4(ADGRV1):c.2812C>T (p.Gln938Ter)	ADGRV1 (Q938*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503072	NM_153676.4(USH1C):c.777del (p.Glu260fs)	USH1C (E260fs)	Deletion (frameshift variant +1 more)	Usher syndrome +1 more	GPathogenic
Select item 2503071	NM_206933.4(USH2A):c.1636G>T (p.Gly546Ter)	USH2A (G546*)	Single nucleotide variant (nonsense)	Usher syndrome	GPathogenic
Select item 2503070	NM_000260.4(MYO7A):c.2991_2992del (p.Glu998fs)	MYO7A (E987fs +1 more)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503069	NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)	PCDH15 (E1822K +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 2503068	NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly)	USH2A (V2775G)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance
Select item 2503067	NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe)	USH2A (S4846F)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance
Select item 2503066	NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)	FMC1, FMC1-LUC7L2 +1 more (Y35C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 2503065	NM_022124.6(CDH23):c.1623_1626dup (p.Thr543fs)	CDH23 (T543fs)	Duplication (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503064	NM_000260.4(MYO7A):c.3504-1G>A	MYO7A	Single nucleotide variant (splice acceptor variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2503063	NM_206933.4(USH2A):c.4361_4371del (p.Thr1454fs)	USH2A (T1454fs)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503062	NM_000260.4(MYO7A):c.3275del (p.Gly1092fs)	MYO7A (G1081fs +1 more)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503061	NM_022124.6(CDH23):c.8_9del (p.Arg3fs)	CDH23 (R3fs)	Microsatellite (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503060	NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg)	MYO7A (Q687R +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic
Select item 2503059	NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)	CDH23	Duplication (inframe_insertion)	Usher syndrome	GLikely pathogenic
Select item 2503058	NM_153676.4(USH1C):c.104+2T>C	USH1C	Single nucleotide variant (splice donor variant)	Usher syndrome	GLikely pathogenic
Select item 2503057	NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr)	USH2A	Deletion (inframe_indel)	Usher syndrome	GPathogenic
Select item 2503056	NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro)	MYO7A (A1329P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic
Select item 2503055	NM_000260.4(MYO7A):c.4017dup (p.Ala1340fs)	MYO7A (A1329fs +1 more)	Duplication (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503054	NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)	CDH23 (E524K)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic
Select item 2501268	NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)	ADGRV1 (E2077fs)	Duplication (frameshift variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 2501245	NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)	CDH23 (S384R)	Single nucleotide variant (missense variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2501023	NM_206933.4(USH2A):c.698del (p.Asp233fs)	USH2A (D233fs)	Deletion (frameshift variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2501022	NM_206933.4(USH2A):c.703dup (p.Thr235fs)	USH2A (T235fs)	Duplication (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 2445968	NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)	USH2A, USH2A-AS2 (E1715G)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic
Select item 2445947	NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del	USH2A	Deletion	Usher syndrome	GLikely pathogenic
Select item 2445940	NM_032119.4(ADGRV1):c.2898+2T>C	ADGRV1	Single nucleotide variant (splice donor variant)	Usher syndrome	GLikely pathogenic
Select item 2445925	NM_015404.4(WHRN):c.375del (p.Ala126fs)	WHRN (A126fs)	Deletion (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 2445908	NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)	ADGRV1 (V4386fs)	Deletion (frameshift variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 2445692	NM_022124.6(CDH23):c.9278+2T>A	CDH23	Single nucleotide variant (splice donor variant)	Usher syndrome	GLikely pathogenic
Select item 2429323	NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)	USH2A (N4071fs)	Deletion (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 2429322	NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del	USH2A	Deletion	Usher syndrome	GLikely pathogenic
Select item 2429315	NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)	USH1G (Q100* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome	GLikely pathogenic
Select item 2151914	NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)	USH2A (C3444Y)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
Select item 2125215	NM_032119.4(ADGRV1):c.3364dup (p.Ser1122fs)	ADGRV1 (S1122fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1970747	NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)	USH2A (R2859P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1878392	NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)	ADGRV1 (L4425fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1878372	NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)	USH2A (S2494fs)	Duplication (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 1878345	NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)	ADGRV1 (E3359*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GLikely pathogenic
Select item 1804842	NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)	ADGRV1 (A6216fs)	Deletion (frameshift variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 1705193	NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup	ADGRV1	Duplication	Usher syndrome	GLikely pathogenic
Select item 1704603	NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)	ADGRV1 (R2260*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GLikely pathogenic
Select item 1698576	NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del	ADGRV1	Deletion	Usher syndrome	GLikely pathogenic
Select item 1695995	NM_032119.4(ADGRV1):c.16196+1G>T	ADGRV1	Single nucleotide variant (splice donor variant)	Usher syndrome	GLikely pathogenic
Select item 1683413	NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs)	USH2A (E4671fs)	Deletion (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 1677071	NC_000010.10:g.(73454017_73455174)_73468962del	CDH23	Deletion	Usher syndrome	GLikely pathogenic
Select item 1492129	NM_206933.4(USH2A):c.14134-3169A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome type 2A +4 more	GPathogenic/Likely pathogenic
Select item 1458365	NM_022124.6(CDH23):c.3579+2T>C	C10orf105, CDH23	Single nucleotide variant (splice donor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1457981	NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His)	MYO7A (L1788H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1456003	NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)	USH2A, USH2A-AS1 (S1406*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1441479	NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)	USH2A (R303S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
Select item 1440511	NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)	USH2A (E4963fs)	Duplication (frameshift variant)	Usher syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1423866	NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)	USH2A (W3147*)	Single nucleotide variant (nonsense)	Usher syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1392449	NM_206933.4(USH2A):c.9538del (p.Cys3180fs)	USH2A (C3180fs)	Deletion (frameshift variant)	Usher syndrome +2 more	GPathogenic
Select item 1387347	NM_206933.4(USH2A):c.7862del (p.Pro2621fs)	USH2A (P2621fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1369585	NM_032119.4(ADGRV1):c.16041dup (p.Thr5348fs)	ADGRV1 (T5348fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1367599	NM_032119.4(ADGRV1):c.10007C>T (p.Ser3336Phe)	ADGRV1 (S3336F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1356781	NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)	USH2A, USH2A-AS1 (Y1182*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1354042	NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs)	ADGRV1 (S1982fs)	Duplication (frameshift variant +1 more)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1343766	NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del	USH2A	Deletion	Usher syndrome	GPathogenic
Select item 1341497	NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys)	CDH23 (N1845K)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic
Select item 1339936	GRCh37/hg19 10q22.1(chr10:73405588-73406374)x1	CDH23	Copy number loss	Usher syndrome	Gnot provided
Select item 1339725	NM_173477.5(USH1G):c.502G>T (p.Glu168Ter)	USH1G (E168* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome	GLikely pathogenic

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