ClinVar for MedGen (Select 934647) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1277037	NM_018191.4(RCBTB1):c.603+36T>C	RCBTB1	Single nucleotide variant (intron variant)	RCBTB1-related retinopathy +1 more	GBenign
Select item 1265543	NM_018191.4(RCBTB1):c.*6A>G	RCBTB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1170499	NM_018191.4(RCBTB1):c.71C>T (p.Ala24Val)	RCBTB1 (A24V)	Single nucleotide variant (missense variant +2 more)	RCBTB1-related retinopathy +1 more	GBenign
Select item 1170496	NM_018191.4(RCBTB1):c.643C>T (p.Leu215=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1166149	NM_018191.4(RCBTB1):c.1017C>G (p.Pro339=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	RCBTB1-related retinopathy +1 more	GBenign
Select item 253020	NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe)	RCBTB1 (L388F +1 more)	Single nucleotide variant (missense variant +1 more)	RCBTB1-related retinopathy +1 more	GPathogenic/Likely pathogenic
Select item 253016	NM_018191.4(RCBTB1):c.919G>A (p.Val307Met)	RCBTB1 (V307M +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 224622	NM_018191.4(RCBTB1):c.707del (p.Asn236fs)	RCBTB1 (N236fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic

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