ClinVar for MedGen (Select 811638) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435386	NM_002900.3(RBP3):c.1412C>A (p.Thr471Lys)	RBP3 (T471K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 1804033	NM_002900.3(RBP3):c.1472del (p.Leu491fs)	RBP3 (L491fs)	Deletion (frameshift variant)	Retinitis pigmentosa 66	GLikely pathogenic
Select item 1463164	NM_002900.3(RBP3):c.722A>T (p.Asp241Val)	RBP3 (D241V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1356195	NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln)	RBP3 (R1114Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66 +1 more	GConflicting classifications of pathogenicity
Select item 1184596	NM_002900.3(RBP3):c.509G>A (p.Arg170Gln)	RBP3 (R170Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065743	NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs)	RBP3 (T563fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1014391	NM_002900.3(RBP3):c.1532A>T (p.Asp511Val)	RBP3 (D511V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1007565	NM_002900.3(RBP3):c.2240G>A (p.Arg747His)	RBP3 (R747H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 978973	NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter)	RBP3 (R388*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 66 +1 more	GConflicting classifications of pathogenicity
Select item 964958	NM_002900.3(RBP3):c.160C>T (p.Gln54Ter)	RBP3 (Q54*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 958687	NM_002900.3(RBP3):c.1756G>A (p.Glu586Lys)	RBP3 (E586K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66 +2 more	GUncertain significance
Select item 933846	NM_002900.3(RBP3):c.749G>A (p.Arg250His)	RBP3 (R250H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 869149	NM_002900.3(RBP3):c.1408del (p.Asp470fs)	RBP3 (D470fs)	Deletion (frameshift variant)	Retinitis pigmentosa 66	GLikely pathogenic
Select item 779143	NM_002900.3(RBP3):c.1296G>A (p.Val432=)	RBP3	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 725981	NM_002900.3(RBP3):c.1503C>T (p.Ala501=)	RBP3	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 299998	NM_002900.3(RBP3):c.-13C>T	RBP3	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign
Select item 208325	NM_002900.3(RBP3):c.3581C>T (p.Thr1194Met)	RBP3 (T1194M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208324	NM_002900.3(RBP3):c.3175G>A (p.Val1059Ile)	RBP3 (V1059I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208323	NM_002900.3(RBP3):c.2888C>T (p.Thr963Ile)	RBP3 (T963I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 208322	NM_002900.3(RBP3):c.2866G>A (p.Glu956Lys)	RBP3 (E956K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208321	NM_002900.3(RBP3):c.2763C>A (p.Ser921Arg)	RBP3 (S921R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208320	NM_002900.3(RBP3):c.2708C>G (p.Thr903Arg)	RBP3 (T903R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 208319	NM_002900.3(RBP3):c.2503G>A (p.Gly835Ser)	RBP3 (G835S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 208318	NM_002900.3(RBP3):c.2497C>T (p.Arg833Cys)	RBP3 (R833C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208317	NM_002900.3(RBP3):c.2355C>A (p.Asn785Lys)	RBP3 (N785K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 208316	NM_002900.3(RBP3):c.2239C>T (p.Arg747Cys)	RBP3 (R747C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 208315	NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser)	RBP3 (G741S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 208314	NM_002900.3(RBP3):c.2077G>A (p.Val693Met)	RBP3 (V693M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 208313	NM_002900.3(RBP3):c.2063C>T (p.Ala688Val)	RBP3 (A688V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 208312	NM_002900.3(RBP3):c.2024C>T (p.Thr675Ile)	RBP3 (T675I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 208311	NM_002900.3(RBP3):c.1844C>T (p.Ala615Val)	RBP3 (A615V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 208310	NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)	RBP3 (I599V)	Single nucleotide variant (missense variant)	RBP3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 208309	NM_002900.3(RBP3):c.1778T>C (p.Val593Ala)	RBP3 (V593A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 208308	NM_002900.3(RBP3):c.1603C>T (p.Arg535Cys)	RBP3 (R535C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 208307	NM_002900.3(RBP3):c.1569C>G (p.His523Gln)	RBP3 (H523Q)	Single nucleotide variant (missense variant)	RBP3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 208306	NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg)	RBP3 (Q518R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208305	NM_002900.3(RBP3):c.1327C>A (p.Arg443Ser)	RBP3 (R443S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 208304	NM_002900.3(RBP3):c.1298C>T (p.Ser433Leu)	RBP3 (S433L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208301	NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr)	RBP3 (A379T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 208300	NM_002900.3(RBP3):c.1037G>A (p.Arg346His)	RBP3 (R346H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 208299	NM_002900.3(RBP3):c.962C>T (p.Thr321Ile)	RBP3 (T321I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 208298	NM_002900.3(RBP3):c.844G>A (p.Val282Met)	RBP3 (V282M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208297	NM_002900.3(RBP3):c.800G>A (p.Arg267Gln)	RBP3 (R267Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208296	NM_002900.3(RBP3):c.586G>A (p.Val196Met)	RBP3 (V196M)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 208295	NM_002900.3(RBP3):c.487T>C (p.Ser163Pro)	RBP3 (S163P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 208294	NM_002900.3(RBP3):c.463G>A (p.Val155Met)	RBP3 (V155M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 208293	NM_002900.3(RBP3):c.365G>A (p.Arg122His)	RBP3 (R122H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 208292	NM_002900.3(RBP3):c.53G>T (p.Gly18Val)	RBP3 (G18V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 195184	NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr)	RBP3 (S1021Y)	Single nucleotide variant (missense variant)	RBP3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 193244	NM_002900.3(RBP3):c.973G>A (p.Ala325Thr)	RBP3 (A325T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193243	NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu)	RBP3 (P723L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193241	NM_002900.3(RBP3):c.1514A>T (p.His505Leu)	RBP3 (H505L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193239	NM_002900.3(RBP3):c.837G>A (p.Thr279=)	RBP3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 193238	NM_002900.3(RBP3):c.2650G>A (p.Val884Met)	RBP3 (V884M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 167571	NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn)	RBP3 (D614N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 94087	NM_002900.3(RBP3):c.1631G>A (p.Arg544His)	RBP3 (R544H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 50368	NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn)	RBP3 (D1080N)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Links from MedGen

Items: 57