"Baylor Genetics"[submitter] AND "GPHN"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 534549	NM_020806.5(GPHN):c.86A>G (p.Asn29Ser)	GPHN (N29S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1032857	NM_020806.5(GPHN):c.163G>T (p.Ala55Ser)	GPHN (A55S)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1028686	NM_020806.5(GPHN):c.175G>A (p.Val59Ile)	GPHN (V59I)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GUncertain significance
Select item 1028685	NM_020806.5(GPHN):c.1170A>T (p.Gln390His)	GPHN (Q370H +7 more)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 2441888	NM_020806.5(GPHN):c.2092G>A (p.Val698Ile)	GPHN (V665I +7 more)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1029425	NM_016026.4(RDH11):c.847C>A (p.His283Asn)	GPHN, RDH11 (H283N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	GUncertain significance
Select item 3240301	NM_152443.3(RDH12):c.48_54del (p.Leu15_Tyr16insTer)	GPHN, RDH12	Deletion (nonsense)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2678301	NM_152443.3(RDH12):c.51_52dup (p.Val18fs)	GPHN, RDH12 (V18fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 203385	NM_152443.3(RDH12):c.63_66del (p.Ile22fs)	GPHN, RDH12 (I22fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 1419341	NM_152443.3(RDH12):c.68+1G>A	GPHN, RDH12	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis +1 more	GPathogenic
Select item 2678303	NM_152443.3(RDH12):c.69del	RDH12, GPHN	Deletion (genic downstream transcript variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 1515987	NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)	GPHN, RDH12 (T45A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 852972	NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)	GPHN, RDH12 (A47T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 1037561	NM_152443.3(RDH12):c.146C>A (p.Thr49Lys)	GPHN, RDH12 (T49K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 2049	NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	GPHN, RDH12 (T49M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic
Select item 2678297	NM_152443.3(RDH12):c.164C>A (p.Thr55Lys)	GPHN, RDH12 (T55K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 805928	NM_152443.3(RDH12):c.164C>T (p.Thr55Met)	GPHN, RDH12 (T55M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 2678299	NM_152443.3(RDH12):c.178G>A (p.Ala60Thr)	GPHN, RDH12 (A60T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2050	NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)	GPHN, RDH12 (R62*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13 +3 more	GPathogenic
Select item 805923	NM_152443.3(RDH12):c.185G>T (p.Arg62Leu)	GPHN, RDH12 (R62L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2678307	NM_152443.3(RDH12):c.187+1G>C	GPHN, RDH12	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2678304	NM_152443.3(RDH12):c.188-2A>G	GPHN, RDH12	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 1065722	NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)	GPHN, RDH12 (R65*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 197878	NM_152443.3(RDH12):c.210dup (p.Arg71fs)	GPHN, RDH12 (R71fs)	Duplication (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 986946	NM_152443.3(RDH12):c.226G>A (p.Gly76Arg)	GPHN, RDH12 (G76R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 636078	NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	GPHN, RDH12 (G76W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 2736117	NM_152443.3(RDH12):c.229G>T (p.Glu77Ter)	GPHN, RDH12 (E77*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13 +1 more	GPathogenic
Select item 488802	NM_152443.3(RDH12):c.250C>T (p.Arg84Ter)	GPHN, RDH12 (R84*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1067256	NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)	GPHN, RDH12 (L93P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic
Select item 2055	NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	GPHN, RDH12 (L99I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +3 more	GPathogenic/Likely pathogenic
Select item 835782	NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)	GPHN, RDH12 (R106*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13 +1 more	GPathogenic
Select item 931585	NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)	GPHN, RDH12 (A126E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 2061	NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	GPHN, RDH12 (A126V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +3 more	GConflicting classifications of pathogenicity
Select item 841398	NM_152443.3(RDH12):c.437T>A (p.Val146Asp)	GPHN, RDH12 (V146D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic
Select item 866614	NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)	GPHN, RDH12 (L149P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 977809	NM_152443.3(RDH12):c.448+1G>A	GPHN, RDH12	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 13	GPathogenic
Select item 841661	NM_152443.3(RDH12):c.448+1G>C	GPHN, RDH12	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2054	NM_152443.3(RDH12):c.451C>G (p.His151Asp)	GPHN, RDH12 (H151D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic
Select item 2059	NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	GPHN, RDH12 (T155I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +4 more	GPathogenic
Select item 643541	NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	GPHN, RDH12 (R161W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 970561	NM_152443.3(RDH12):c.488del (p.Lys163fs)	GPHN, RDH12 (K163fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 1516047	NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)	GPHN, RDH12 (R169G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 866945	NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)	GPHN, RDH12 (R169W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 623219	NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)	GPHN, RDH12 (R169Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 559527	NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	RDH12, GPHN (S175L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1970808	NM_152443.3(RDH12):c.546del (p.Ile183fs)	GPHN, RDH12 (I183fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 1075351	NM_152443.3(RDH12):c.580dup (p.Tyr194fs)	GPHN, RDH12 (Y194fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 934121	NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)	GPHN, RDH12 (Y194*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GPathogenic
Select item 3240299	NM_152443.3(RDH12):c.594del (p.Phe198fs)	GPHN, RDH12 (F198fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 663830	NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)	GPHN, RDH12 (S203R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2678309	NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)	GPHN, RDH12 (A206D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GLikely pathogenic
Select item 2678302	NM_152443.3(RDH12):c.617C>T (p.Ala206Val)	GPHN, RDH12 (A206V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 805924	NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)	RDH12, GPHN (N207D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 2058	NM_152443.3(RDH12):c.658+1G>A	GPHN, RDH12	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 13	GPathogenic
Select item 977810	NM_152443.3(RDH12):c.659-2A>T	GPHN, RDH12 +1 more	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 867045	NM_152443.3(RDH12):c.671C>T (p.Thr224Ile)	GPHN, RDH12 +1 more (T224I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2046	NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	GPHN, RDH12 +1 more (Y226C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2137598	NM_152443.3(RDH12):c.697_698dup (p.Arg234fs)	GPHN, RDH12 +1 more (R234fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 866751	NM_152443.3(RDH12):c.697G>C (p.Val233Leu)	GPHN, RDH12 +1 more (V233L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 837228	NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)	GPHN, RDH12 +1 more (V233E)	Indel (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 313842	NM_152443.3(RDH12):c.701G>A (p.Arg234His)	GPHN, RDH12 +1 more (R234H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis +4 more	GConflicting classifications of pathogenicity
Select item 865754	NM_152443.3(RDH12):c.715dup (p.Arg239fs)	GPHN, RDH12 +1 more (R239fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13 +1 more	GPathogenic
Select item 865997	NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)	GPHN, RDH12 +1 more (R239W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 2678308	NM_152443.3(RDH12):c.779dup (p.Ala262fs)	GPHN, RDH12 +1 more (A262fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 648633	NM_152443.3(RDH12):c.784dup (p.Ala262fs)	GPHN, RDH12 +1 more (A262fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2678296	NM_152443.3(RDH12):c.787_788dup (p.Gln263fs)	ZFYVE26, GPHN +1 more (Q263fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2678305	NM_152443.3(RDH12):c.804del (p.Cys268fs)	GPHN, RDH12 +1 more (C268fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2047	NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	GPHN, RDH12 +1 more (A269fs)	Deletion (frameshift variant)	RDH12-related disorder +4 more	GPathogenic
Select item 767105	NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)	GPHN, RDH12 +1 more (A269G)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1071004	NM_152443.3(RDH12):c.812_813del (p.Ala271fs)	GPHN, RDH12 +1 more (A271fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 236431	NM_152443.3(RDH12):c.848+2T>C	GPHN, RDH12 +1 more	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 13	GPathogenic
Select item 3240300	NM_152443.3(RDH12):c.867G>A (p.Trp289Ter)	GPHN, RDH12 +1 more (W289*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 285209	NM_152443.3(RDH12):c.869T>G (p.Val290Gly)	GPHN, RDH12 +1 more (V290G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 655601	NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	GPHN, RDH12 +1 more (R295*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 236432	NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)	ZFYVE26, GPHN +1 more (W304R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 839977	NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)	GPHN, RDH12 +1 more (W304*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GLikely pathogenic

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Items: 76