FZD4[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 501

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 306325	NM_012193.4(FZD4):c.*5451G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306326	NM_012193.4(FZD4):c.*5368C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1 +1 more	GBenign
Select item 306327	NM_012193.4(FZD4):c.5282_5283del	PRSS23, FZD4	Deletion (3 prime UTR variant)	Familial exudative vitreoretinopathy	GLikely benign
Select item 880530	NM_012193.4(FZD4):c.*5256G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	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 880531	NM_012193.4(FZD4):c.*5168C>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306329	NM_012193.4(FZD4):c.*5077C>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1 +1 more	GBenign
Select item 306330	NM_012193.4(FZD4):c.*4883G>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306331	NM_012193.4(FZD4):c.*4867A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306332	NM_012193.4(FZD4):c.*4775C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1 +1 more	GBenign
Select item 306333	NM_012193.4(FZD4):c.*4765T>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1 +1 more	GBenign
Select item 881943	NM_012193.4(FZD4):c.*4756G>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 306334	NM_012193.4(FZD4):c.*4678A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306335	NM_012193.4(FZD4):c.*4664T>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 306336	NM_012193.4(FZD4):c.*4618G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306337	NM_012193.4(FZD4):c.*4518C>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306338	NM_012193.4(FZD4):c.*4516C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306339	NM_012193.4(FZD4):c.*4414T>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 883121	NM_012193.4(FZD4):c.*4386T>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306340	NM_012193.4(FZD4):c.*4335T>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306341	NM_012193.4(FZD4):c.*4196A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 306342	NM_012193.4(FZD4):c.*4171A>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306343	NM_012193.4(FZD4):c.*4083A>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306344	NM_012193.4(FZD4):c.*4079G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306345	NM_012193.4(FZD4):c.*4069G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306346	NM_012193.4(FZD4):c.*4068C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306347	NM_012193.4(FZD4):c.*4018T>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 883898	NM_012193.4(FZD4):c.*3974C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 883899	NM_012193.4(FZD4):c.*3953G>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	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 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 306353	NM_012193.4(FZD4):c.*3888G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306354	NM_012193.4(FZD4):c.*3814C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306355	NM_012193.4(FZD4):c.*3792A>T	PRSS23, FZD4	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 880609	NM_012193.4(FZD4):c.*3775C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306356	NM_012193.4(FZD4):c.*3770A>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306357	NM_012193.4(FZD4):c.*3746C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306358	NM_012193.4(FZD4):c.*3700A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1 +1 more	GBenign
Select item 880610	NM_012193.4(FZD4):c.*3686C>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 880611	NM_012193.4(FZD4):c.*3639A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 880612	NM_012193.4(FZD4):c.*3618G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306359	NM_012193.4(FZD4):c.*3574C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 306360	NM_012193.4(FZD4):c.*3479C>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 882026	NM_012193.4(FZD4):c.*3433T>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306361	NM_012193.4(FZD4):c.*3402G>T	PRSS23, FZD4	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306362	NM_012193.4(FZD4):c.*3197C>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	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 882027	NM_012193.4(FZD4):c.*3052C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306364	NM_012193.4(FZD4):c.*3042A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306365	NM_012193.4(FZD4):c.*2971T>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1 +1 more	GBenign
Select item 883185	NM_012193.4(FZD4):c.*2960T>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306366	NM_012193.4(FZD4):c.2956_2960delinsAGTTAAAAGC	FZD4, PRSS23	Indel (3 prime UTR variant)	Familial exudative vitreoretinopathy	GUncertain significance
Select item 306367	NM_012193.4(FZD4):c.*2818G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306368	NM_012193.4(FZD4):c.*2779A>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306369	NM_012193.4(FZD4):c.*2747dup	PRSS23, FZD4	Duplication (3 prime UTR variant)	Familial exudative vitreoretinopathy	GLikely benign
Select item 306370	NM_012193.4(FZD4):c.*2660C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1 +1 more	GBenign
Select item 306371	NM_012193.4(FZD4):c.*2639A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306372	NM_012193.4(FZD4):c.*2619T>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306373	NM_012193.4(FZD4):c.*2581G>T	PRSS23, FZD4	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306374	NM_012193.4(FZD4):c.*2542T>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306375	NM_012193.4(FZD4):c.*2517A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306376	NM_012193.4(FZD4):c.*2496G>A	PRSS23, FZD4	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306377	NM_012193.4(FZD4):c.*2302A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1 +1 more	GLikely benign
Select item 883974	NM_012193.4(FZD4):c.*2182G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306378	NM_012193.4(FZD4):c.*2181C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306379	NM_012193.4(FZD4):c.*2150A>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306380	NM_012193.4(FZD4):c.*2101C>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 883975	NM_012193.4(FZD4):c.*2091A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 880687	NM_012193.4(FZD4):c.*2087C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 880688	NM_012193.4(FZD4):c.*2051G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306381	NM_012193.4(FZD4):c.*2047C>T	PRSS23, FZD4	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306382	NM_012193.4(FZD4):c.*1932G>C	PRSS23, FZD4	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1 +1 more	GBenign
Select item 306383	NM_012193.4(FZD4):c.*1695A>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306384	NM_012193.4(FZD4):c.*1481C>T	PRSS23, FZD4	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 882094	NM_012193.4(FZD4):c.*1459A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 882095	NM_012193.4(FZD4):c.*1397A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306385	NM_012193.4(FZD4):c.*1298C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1 +1 more	GBenign
Select item 882096	NM_012193.4(FZD4):c.*1252C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306386	NM_012193.4(FZD4):c.*1121G>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306387	NM_012193.4(FZD4):c.*1050T>G	PRSS23, FZD4	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306388	NM_012193.4(FZD4):c.*947G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306389	NM_012193.4(FZD4):c.*827A>G	PRSS23, FZD4	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 306390	NM_012193.4(FZD4):c.*799A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GBenign
Select item 883237	NM_012193.4(FZD4):c.*798G>C	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306391	NM_012193.4(FZD4):c.*779G>A	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 306392	NM_012193.4(FZD4):c.*764T>C	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 1	GBenign
Select item 883238	NM_012193.4(FZD4):c.*701C>A	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306393	NM_012193.4(FZD4):c.*672C>T	PRSS23, FZD4	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306394	NM_012193.4(FZD4):c.*647A>G	PRSS23, FZD4	Single nucleotide variant (3 prime UTR variant +1 more)	Exudative vitreoretinopathy 1	GBenign
Select item 306395	NM_012193.4(FZD4):c.*538G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 884040	NM_012193.4(FZD4):c.*522C>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 884041	NM_012193.4(FZD4):c.*461G>A	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 306396	NM_012193.4(FZD4):c.*345A>G	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 884042	NM_012193.4(FZD4):c.*312C>T	FZD4, PRSS23	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 1	GUncertain significance

<< First< Prev

Page of 6