ClinVar for MedGen (Select 1370071) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180769	NM_001278293.3(ARL6):c.349+1G>A	ARL6	Single nucleotide variant (splice donor variant)	Abnormality of the eye	GLikely pathogenic
Select item 1180748	NM_000350.3(ABCA4):c.1795_1833del (p.Glu599_Leu611del)	ABCA4	Deletion (inframe_deletion +1 more)	Abnormality of the eye	GLikely pathogenic
Select item 1180705	NM_001378454.1(ALMS1):c.6711dup (p.Ser2238fs)	ALMS1 (S2238fs +1 more)	Duplication (frameshift variant)	Abnormality of the eye	GPathogenic
Select item 1180699	NM_024513.4(FYCO1):c.3330C>A (p.Cys1110Ter)	FYCO1 (C1062* +3 more)	Single nucleotide variant (nonsense +1 more)	Abnormality of the eye	GLikely pathogenic
Select item 1180661	NM_006204.4(PDE6C):c.1744A>T (p.Arg582Ter)	PDE6C (R582*)	Single nucleotide variant (nonsense)	Abnormality of the eye	GLikely pathogenic
Select item 1180656	NM_201253.3(CRB1):c.548G>A (p.Cys183Tyr)	CRB1 (C114Y +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of the eye	GLikely pathogenic
Select item 1180634	NM_001142800.2(EYS):c.2023+1G>A	EYS	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1180627	NM_014336.5(AIPL1):c.785-1G>C	AIPL1	Single nucleotide variant (splice acceptor variant +1 more)	Abnormality of the eye	GLikely pathogenic
Select item 1180621	NM_004744.5(LRAT):c.157_159dup (p.Val53dup)	LRAT	Duplication (inframe_insertion)	Abnormality of the eye	GPathogenic
Select item 1180616	NM_000329.3(RPE65):c.938A>C (p.His313Pro)	RPE65 (H313P)	Single nucleotide variant (missense variant)	Abnormality of the eye	GLikely pathogenic
Select item 1075150	NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer)	BBS9	Deletion (nonsense +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1074830	NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)	BBS9 (Q440* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 1048797	NM_001256789.3(CACNA1F):c.3184C>T (p.Leu1062Phe)	CACNA1F (L1008F +2 more)	Single nucleotide variant (missense variant)	Abnormality of the eye +1 more	GUncertain significance
Select item 977814	NM_152443.3(RDH12):c.759dup (p.Phe254fs)	GPHN, RDH12 +1 more (F254fs)	Duplication (frameshift variant)	Abnormality of the eye	GLikely pathogenic
Select item 828151	NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)	TULP1 (Q248* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the eye +3 more	GPathogenic
Select item 523291	GRCh37/hg19 8q23.1(chr8:109990022-110168343)	TRHR	Copy number loss	Intellectual disability, mild +8 more	GUncertain significance
Select item 523275	GRCh37/hg19 22q11.21(chr22:21081260-21431174)	AIFM3, SNAP29 +7 more	Copy number gain	Intellectual disability, mild +8 more	GUncertain significance
Select item 523255	GRCh37/hg19 16p11.2(chr16:29656684-30197341)	ASPHD1, C16orf54 +25 more	Copy number gain	Intellectual disability, mild +8 more	GLikely pathogenic
Select item 497256	NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)	CNGA3 (R427C +1 more)	Single nucleotide variant (missense variant)	Abnormality of the eye +4 more	GPathogenic
Select item 438256	NM_017662.5(TRPM6):c.2920-806_3404-1965del	TRPM6	Deletion (splice acceptor variant +1 more)	Hypomagnesemia +2 more	GLikely pathogenic
Select item 438231	NM_001134831.2(AHI1):c.1912+1488_2036+506del	AHI1	Deletion (splice acceptor variant +1 more)	Abnormality of the eye	GLikely pathogenic
Select item 438227	NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)	NR2E3 (A102D)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GConflicting classifications of pathogenicity
Select item 438161	NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)	RPGRIP1 (E800K +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +2 more	GPathogenic/Likely pathogenic
Select item 438155	NM_001298.3(CNGA3):c.107_110del (p.His36fs)	CNGA3 (H36fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 438125	NM_001256789.3(CACNA1F):c.3595C>T (p.Gln1199Ter)	CACNA1F (Q1210* +2 more)	Single nucleotide variant (nonsense)	Abnormality of the eye	GLikely pathogenic
Select item 438114	NM_006744.4(RBP4):c.248+1G>A	RBP4	Single nucleotide variant (splice donor variant)	Abnormality of the eye	GLikely pathogenic
Select item 438064	NM_000390.4(CHM):c.315-1536A>G	CHM	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GLikely pathogenic
Select item 438058	NM_001377295.2(GNAT2):c.906C>A (p.Tyr302Ter)	GNAT2 (Y302*)	Single nucleotide variant (nonsense)	Abnormality of the eye	GLikely pathogenic
Select item 438056	NM_001378477.3(NYX):c.921C>G (p.Asn307Lys)	NYX (N312K +1 more)	Single nucleotide variant (missense variant)	Abnormality of the eye	GLikely pathogenic
Select item 438042	NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)	CNGB3 (R604*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 437986	NM_000372.5(TYR):c.1037G>T (p.Gly346Val)	TYR (G346V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 437945	NM_006915.3(RP2):c.43del (p.Ser15fs)	LOC130068202, RP2 (S15fs)	Deletion (frameshift variant)	Abnormality of the eye	GLikely pathogenic
Select item 437938	NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter)	IMPG2 (Y560*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 433350	NM_001171.6(ABCC6):c.4104del (p.Asp1368fs)	ABCC6 (D1254fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic
Select item 427658	NM_019098.5(CNGB3):c.1285del (p.Ser429fs)	CNGB3 (S429fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 424771	NM_019098.4(CNGB3):c.[1193A>G];[1208G>A]			Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 424735	NM_017890.4(VPS13B):c.[3582delT];[6370_6371delAT]			Abnormality of neuronal migration	GPathogenic
Select item 268013	46;XX;inv(6)(p11.1q21)dn		Inversion	Abnormality of the eye +1 more	GUncertain significance
Select item 265467	NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)	CNGA3 (R563H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 242548	NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)	VPS13B (M2099fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236068	NM_000350.2(ABCA4):c.[1A>G;6089G>A]	ABCA4 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 208566	NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)	CACNA2D4 (R628*)	Single nucleotide variant (nonsense)	Retinal cone dystrophy 4 +1 more	GConflicting classifications of pathogenicity
Select item 191289	NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)	RLBP1	Deletion (inframe_deletion)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 189792	NM_001164688.2(RD3):c.112C>T (p.Arg38Ter)	RD3 (R38*)	Single nucleotide variant (nonsense)	RD3-related condition +2 more	GPathogenic
Select item 143154	NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)	CNGB3 (R403Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 99211	NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	ABCA4 (E1087K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic
Select item 99110	NM_000350.3(ABCA4):c.1A>G (p.Met1Val)	ABCA4 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 95847	NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr)	VPS13B (D1210Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95840	NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)	VPS13B (S864*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 68459	NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)	CRYAA (R12C)	Single nucleotide variant (missense variant)	Abnormality of the eye +1 more	GPathogenic/Likely pathogenic
Select item 13115	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65 (R91W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +6 more	GPathogenic
Select item 6569	NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)	ABCC6 (T1130M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 5225	NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	CNGB3	Deletion (frameshift variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 2047	NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	GPHN, RDH12 +1 more (A269fs)	Deletion (frameshift variant)	RDH12-Related Disorders +3 more	GPathogenic

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Items: 54