ClinVar for MedGen (Select 573220) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429188	NC_000011.9:g.(?_68080076)_(68216744_?)del	LRP5	Deletion	Familial exudative vitreoretinopathy	GPathogenic
Select item 1722379	NM_002335.4(LRP5):c.3763+2T>C	LRP5	Single nucleotide variant (splice donor variant)	Familial exudative vitreoretinopathy +1 more	GLikely pathogenic
Select item 1386515	NM_012193.4(FZD4):c.50T>C (p.Val17Ala)	FZD4 (V17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812466	NM_024741.3(ZNF408):c.1697T>A (p.Leu566His)	ZNF408 (L566H +1 more)	Single nucleotide variant (missense variant)	Familial exudative vitreoretinopathy	GPathogenic
Select item 812465	NM_024741.3(ZNF408):c.1174T>C (p.Ser392Pro)	ZNF408 (S384P +1 more)	Single nucleotide variant (missense variant)	Familial exudative vitreoretinopathy	GLikely pathogenic
Select item 812323	NM_012193.4(FZD4):c.349T>C (p.Cys117Arg)	FZD4, PRSS23 (C117R)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial exudative vitreoretinopathy	GLikely pathogenic
Select item 441133	NM_012193.4(FZD4):c.40_49del (p.Pro14fs)	FZD4 (P14fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 437992	NM_002335.4(LRP5):c.3242T>G (p.Leu1081Arg)	LRP5 (L1081R +1 more)	Single nucleotide variant (missense variant)	Familial exudative vitreoretinopathy	GLikely pathogenic
Select item 437991	NM_002335.4(LRP5):c.1265C>T (p.Ala422Val)	LRP5 (A422V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 437962	NM_012338.4(TSPAN12):c.225_227del (p.Ile76del)	TSPAN12 (I76del)	Deletion (inframe_deletion)	TSPAN12-related disorder	GUncertain significance
Select item 358771	NM_012338.4(TSPAN12):c.-251del	TSPAN12	Deletion (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 358770	NM_012338.4(TSPAN12):c.-251dup	TSPAN12	Duplication (5 prime UTR variant)	Familial exudative vitreoretinopathy +1 more	GUncertain significance
Select item 358768	NM_012338.4(TSPAN12):c.-245dup	TSPAN12	Duplication (5 prime UTR variant)	Familial exudative vitreoretinopathy	GUncertain significance
Select item 358754	NM_012338.4(TSPAN12):c.1067_1068del	TSPAN12	Deletion (3 prime UTR variant)	Familial exudative vitreoretinopathy	GLikely benign
Select item 306369	NM_012193.4(FZD4):c.*2747dup	PRSS23, FZD4	Duplication (3 prime UTR variant)	Familial exudative vitreoretinopathy	GLikely benign
Select item 306366	NM_012193.4(FZD4):c.2956_2960delinsAGTTAAAAGC	FZD4, PRSS23	Indel (3 prime UTR variant)	Familial exudative vitreoretinopathy	GUncertain significance
Select item 306363	NM_012193.4(FZD4):c.*3060del	FZD4, PRSS23	Deletion (3 prime UTR variant)	Familial exudative vitreoretinopathy	GUncertain significance
Select item 306352	NM_012193.4(FZD4):c.*3909TTTG[4]	FZD4, PRSS23	Microsatellite (3 prime UTR variant)	Familial exudative vitreoretinopathy +1 more	GUncertain significance
Select item 306351	NM_012193.4(FZD4):c.*3909TTTG[5]	FZD4, PRSS23	Microsatellite (3 prime UTR variant)	Familial exudative vitreoretinopathy +1 more	GUncertain significance
Select item 306350	NM_012193.4(FZD4):c.*3909TTTG[6]	FZD4, PRSS23	Microsatellite (3 prime UTR variant)	Familial exudative vitreoretinopathy	GUncertain significance
Select item 306349	NM_012193.4(FZD4):c.*3909TTTG[7]	FZD4, PRSS23	Microsatellite (3 prime UTR variant)	Familial exudative vitreoretinopathy	GUncertain significance
Select item 306348	NM_012193.4(FZD4):c.*3909TTTG[9]	PRSS23, FZD4	Microsatellite (3 prime UTR variant)	Familial exudative vitreoretinopathy	GUncertain significance
Select item 306328	NM_012193.4(FZD4):c.*5250del	FZD4, PRSS23	Deletion (3 prime UTR variant)	Familial exudative vitreoretinopathy	GUncertain significance
Select item 306327	NM_012193.4(FZD4):c.5282_5283del	PRSS23, FZD4	Deletion (3 prime UTR variant)	Familial exudative vitreoretinopathy	GLikely benign
Select item 236067	NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)	TSPAN12 (C181F)	Single nucleotide variant (missense variant)	Atrophia bulborum hereditaria +3 more	GPathogenic
Select item 224625	NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs)	FZD4, PRSS23 (D428fs)	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 224624	NM_012193.4(FZD4):c.313A>G (p.Met105Val)	FZD4, PRSS23 (M105V)	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 1 +5 more	GPathogenic
Select item 224623	NM_000266.4(NDP):c.-77A>G	NDP, NDP-AS1	Single nucleotide variant (5 prime UTR variant)	Exudative retinopathy +1 more	GUncertain significance
Select item 224621	NM_018191.4(RCBTB1):c.1172+1G>A	RCBTB1	Single nucleotide variant (splice donor variant)	Exudative retinopathy +1 more	GLikely pathogenic
Select item 198551	NM_012338.4(TSPAN12):c.469-12dup	TSPAN12	Duplication (intron variant)	Familial exudative vitreoretinopathy +2 more	GBenign/Likely benign
Select item 6287	NM_002335.4(LRP5):c.4488+2T>G	LRP5	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic

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Items: 31