"3billion"[submitter] AND "GPHN"[gene] - ClinVar - NCBI

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Items: 8

	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 566679	NM_020806.5(GPHN):c.127G>A (p.Val43Ile)	GPHN (V43I)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +2 more	GConflicting classifications of pathogenicity
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 805927	NM_152443.3(RDH12):c.194G>A (p.Arg65Gln)	GPHN, RDH12 (R65Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GUncertain significance
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 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 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 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