ClinVar for MedGen (Select 482845) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432253	NM_001004334.4(GPR179):c.3092G>A (p.Arg1031Lys)	GPR179 (R1031K)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 1705299	NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)	GPR179 (W556*)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1E	GPathogenic
Select item 1509976	NM_001004334.4(GPR179):c.2605C>T (p.Arg869Trp)	GPR179 (R869W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1505362	NM_001004334.4(GPR179):c.3752C>T (p.Ser1251Leu)	GPR179 (S1251L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1486461	NM_001004334.4(GPR179):c.1916G>A (p.Arg639Gln)	GPR179 (R639Q)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GUncertain significance
Select item 1480508	NM_001004334.4(GPR179):c.3460C>T (p.Gln1154Ter)	GPR179 (Q1154*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1339808	NM_001004334.4(GPR179):c.4172A>C (p.Asp1391Ala)	GPR179 (D1391A)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	Gnot provided
Select item 1333395	NM_001004334.4(GPR179):c.4550dup (p.Met1517fs)	GPR179 (M1517fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1324509	NM_001004334.4(GPR179):c.148C>T (p.Gln50Ter)	GPR179 (Q50*)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1E	GLikely pathogenic
Select item 1301551	NM_001004334.4(GPR179):c.619G>C (p.Gly207Arg)	GPR179 (G207R)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GLikely benign
Select item 1301550	NM_001004334.4(GPR179):c.5627G>C (p.Trp1876Ser)	GPR179 (W1876S)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 1301549	NM_001004334.4(GPR179):c.274C>A (p.Pro92Thr)	GPR179 (P92T)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 1120931	NM_001004334.4(GPR179):c.6494C>A (p.Thr2165Lys)	GPR179 (T2165K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1058799	NM_001004334.4(GPR179):c.5872T>C (p.Cys1958Arg)	GPR179 (C1958R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892350	NM_001004334.4(GPR179):c.858A>G (p.Pro286=)	GPR179	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892349	NM_001004334.4(GPR179):c.952C>T (p.Arg318Cys)	GPR179 (R318C)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 892294	NM_001004334.4(GPR179):c.1947C>T (p.Asp649=)	GPR179	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892293	NM_001004334.4(GPR179):c.2002T>C (p.Trp668Arg)	GPR179 (W668R)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 892292	NM_001004334.4(GPR179):c.2149C>T (p.Arg717Cys)	GPR179 (R717C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 892291	NM_001004334.4(GPR179):c.2150G>A (p.Arg717His)	GPR179 (R717H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 892236	NM_001004334.4(GPR179):c.3442G>A (p.Asp1148Asn)	GPR179 (D1148N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 892235	NM_001004334.4(GPR179):c.3447C>T (p.Asp1149=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 892234	NM_001004334.4(GPR179):c.3451G>A (p.Glu1151Lys)	GPR179 (E1151K)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 892233	NM_001004334.4(GPR179):c.3466C>G (p.Gln1156Glu)	GPR179 (Q1156E)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 892232	NM_001004334.4(GPR179):c.3508C>T (p.Arg1170Trp)	GPR179 (R1170W)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +2 more	GUncertain significance
Select item 892175	NM_001004334.4(GPR179):c.4381G>C (p.Glu1461Gln)	GPR179 (E1461Q)	Single nucleotide variant (missense variant)	GPR179-related disorder +2 more	GLikely benign
Select item 892174	NM_001004334.4(GPR179):c.4459G>A (p.Val1487Met)	GPR179 (V1487M)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +2 more	GUncertain significance
Select item 892173	NM_001004334.4(GPR179):c.4555G>A (p.Glu1519Lys)	GPR179 (E1519K)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 892124	NM_001004334.4(GPR179):c.6457G>A (p.Gly2153Arg)	GPR179 (G2153R)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 891152	NM_001004334.4(GPR179):c.976G>A (p.Ala326Thr)	GPR179 (A326T)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 891151	NM_001004334.4(GPR179):c.983C>T (p.Pro328Leu)	GPR179 (P328L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891150	NM_001004334.4(GPR179):c.1029C>T (p.Phe343=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GBenign/Likely benign
Select item 891149	NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val)	GPR179 (A378V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 891077	NM_001004334.4(GPR179):c.2348C>T (p.Pro783Leu)	GPR179 (P783L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891076	NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln)	GPR179 (E805Q)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 891075	NM_001004334.4(GPR179):c.2419G>A (p.Val807Met)	GPR179 (V807M)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 891074	NM_001004334.4(GPR179):c.2581G>A (p.Glu861Lys)	GPR179 (E861K)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GUncertain significance
Select item 891007	NM_001004334.4(GPR179):c.3680A>G (p.Lys1227Arg)	GPR179 (K1227R)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GBenign
Select item 891006	NM_001004334.4(GPR179):c.3699G>T (p.Leu1233=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890941	NM_001004334.4(GPR179):c.5382G>A (p.Met1794Ile)	GPR179 (M1794I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 890940	NM_001004334.4(GPR179):c.5386T>G (p.Cys1796Gly)	GPR179 (C1796G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 890939	NM_001004334.4(GPR179):c.5416G>A (p.Ala1806Thr)	GPR179 (A1806T)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 890886	NM_001004334.4(GPR179):c.*17G>C	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890885	NM_001004334.4(GPR179):c.*359C>G	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890884	NM_001004334.4(GPR179):c.*388A>C	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890883	NM_001004334.4(GPR179):c.*453C>T	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890594	NM_001004334.4(GPR179):c.1294C>A (p.Pro432Thr)	GPR179 (P432T)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890593	NM_001004334.4(GPR179):c.1441C>T (p.Arg481Trp)	GPR179 (R481W)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890592	NM_001004334.4(GPR179):c.1466G>A (p.Arg489Gln)	GPR179 (R489Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 890591	NM_001004334.4(GPR179):c.1477C>A (p.His493Asn)	GPR179 (H493N)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890590	NM_001004334.4(GPR179):c.1477C>T (p.His493Tyr)	GPR179 (H493Y)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GBenign
Select item 890517	NM_001004334.4(GPR179):c.3110T>C (p.Val1037Ala)	GPR179 (V1037A)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890437	NM_001004334.4(GPR179):c.3846C>T (p.Asp1282=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890436	NM_001004334.4(GPR179):c.3876G>A (p.Glu1292=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890385	NM_001004334.4(GPR179):c.5639A>G (p.Asp1880Gly)	GPR179 (D1880G)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890384	NM_001004334.4(GPR179):c.5769T>C (p.Gly1923=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890383	NM_001004334.4(GPR179):c.5859G>A (p.Glu1953=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 890382	NM_001004334.4(GPR179):c.5868C>T (p.Ser1956=)	GPR179	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890326	NM_001004334.4(GPR179):c.*522C>T	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 890325	NM_001004334.4(GPR179):c.*640G>T	GPR179	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 889636	NM_001004334.4(GPR179):c.131C>A (p.Pro44Gln)	GPR179 (P44Q)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +2 more	GUncertain significance
Select item 889635	NM_001004334.4(GPR179):c.272T>C (p.Leu91Pro)	GPR179 (L91P)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 889634	NM_001004334.4(GPR179):c.489C>T (p.Ala163=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 889633	NM_001004334.4(GPR179):c.508G>C (p.Gly170Arg)	GPR179 (G170R)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GBenign
Select item 888953	NM_001004334.4(GPR179):c.628G>A (p.Gly210Ser)	GPR179 (G210S)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GBenign
Select item 888894	NM_001004334.4(GPR179):c.1533C>T (p.Gly511=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 888893	NM_001004334.4(GPR179):c.1785-3C>T	GPR179	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 888816	NM_001004334.4(GPR179):c.3145G>A (p.Ala1049Thr)	GPR179 (A1049T)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GUncertain significance
Select item 888815	NM_001004334.4(GPR179):c.3348C>T (p.Ser1116=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 888814	NM_001004334.4(GPR179):c.3349G>A (p.Gly1117Arg)	GPR179 (G1117R)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +2 more	GConflicting classifications of pathogenicity
Select item 888813	NM_001004334.4(GPR179):c.3383G>A (p.Arg1128Gln)	GPR179 (R1128Q)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GUncertain significance
Select item 888812	NM_001004334.4(GPR179):c.3400C>T (p.Arg1134Trp)	GPR179 (R1134W)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GUncertain significance
Select item 888811	NM_001004334.4(GPR179):c.3411G>A (p.Ala1137=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 888739	NM_001004334.4(GPR179):c.4047G>A (p.Ala1349=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 888738	NM_001004334.4(GPR179):c.4071G>A (p.Lys1357=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 888737	NM_001004334.4(GPR179):c.4073T>G (p.Val1358Gly)	GPR179 (V1358G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888736	NM_001004334.4(GPR179):c.4081C>G (p.Pro1361Ala)	GPR179 (P1361A)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 888735	NM_001004334.4(GPR179):c.4141T>C (p.Cys1381Arg)	GPR179 (C1381R)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GBenign
Select item 888734	NM_001004334.4(GPR179):c.4180C>G (p.Pro1394Ala)	GPR179 (P1394A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888733	NM_001004334.4(GPR179):c.4188A>G (p.Gln1396=)	GPR179	Single nucleotide variant (synonymous variant)	GPR179-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 888675	NM_001004334.4(GPR179):c.5905G>A (p.Val1969Ile)	GPR179 (V1969I)	Single nucleotide variant (missense variant)	GPR179-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 888674	NM_001004334.4(GPR179):c.6169G>A (p.Val2057Met)	GPR179 (V2057M)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 632281	NM_001004334.4(GPR179):c.278dup (p.Ser94fs)	GPR179 (S94fs)	Duplication (frameshift variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 632280	NM_001004334.4(GPR179):c.3364_3365del (p.Ser1122fs)	GPR179 (S1122fs)	Microsatellite (frameshift variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 632279	NM_001004334.4(GPR179):c.4810G>T (p.Glu1604Ter)	GPR179 (E1604*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 632278	NM_001004334.4(GPR179):c.4996C>T (p.Gln1666Ter)	GPR179 (Q1666*)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1E	GUncertain significance
Select item 623175	NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)	GPR179 (Y576fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 599074	NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs)	GPR179 (P262fs)	Duplication (frameshift variant)	Congenital stationary night blindness 1E	GPathogenic
Select item 522294	NM_001004334.4(GPR179):c.795-4G>A	GPR179	Single nucleotide variant (intron variant)	Congenital stationary night blindness 1E +2 more	GLikely benign
Select item 522293	NM_001004334.4(GPR179):c.3441C>T (p.Ser1147=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +2 more	GBenign/Likely benign
Select item 522292	NM_001004334.4(GPR179):c.5385C>T (p.Gly1795=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GBenign
Select item 522291	NM_001004334.4(GPR179):c.5606A>C (p.Gln1869Pro)	GPR179 (Q1869P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 522290	NM_001004334.4(GPR179):c.6336G>A (p.Ala2112=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GBenign/Likely benign
Select item 497491	NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity
Select item 385325	NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro)	GPR179 (S1152P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 323044	NM_001004334.4(GPR179):c.61G>C (p.Val21Leu)	GPR179 (V21L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 323043	NM_001004334.4(GPR179):c.74C>A (p.Ala25Asp)	GPR179 (A25D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 323042	NM_001004334.4(GPR179):c.98G>A (p.Arg33His)	GPR179 (R33H)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 323041	NM_001004334.4(GPR179):c.134G>T (p.Gly45Val)	GPR179 (G45V)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GUncertain significance
Select item 323040	NM_001004334.4(GPR179):c.180C>T (p.Leu60=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GConflicting classifications of pathogenicity

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