14370[HGNC] - ClinVar - NCBI

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	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 2642255	NM_007173.6(PRSS23):c.18G>A (p.Gly6=)	PRSS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2394373	NM_007173.6(PRSS23):c.23T>G (p.Leu8Arg)	PRSS23 (L8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282639	NM_007173.6(PRSS23):c.43C>T (p.Leu15Phe)	PRSS23 (L15F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294255	NM_007173.6(PRSS23):c.52G>A (p.Val18Ile)	PRSS23 (V18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407596	NM_007173.6(PRSS23):c.68C>T (p.Pro23Leu)	PRSS23 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206897	NM_007173.6(PRSS23):c.106C>T (p.Arg36Cys)	PRSS23 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234612	NM_007173.6(PRSS23):c.128A>C (p.Gln43Pro)	PRSS23 (Q43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326201	NM_007173.6(PRSS23):c.129G>T (p.Gln43His)	PRSS23 (Q43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642256	NM_007173.6(PRSS23):c.166G>A (p.Glu56Lys)	PRSS23 (E56K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2490202	NM_007173.6(PRSS23):c.178G>C (p.Glu60Gln)	PRSS23 (E60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310677	NM_007173.6(PRSS23):c.235G>A (p.Glu79Lys)	PRSS23 (E79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219832	NM_007173.6(PRSS23):c.266C>T (p.Thr89Met)	PRSS23 (T89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310675	NM_007173.6(PRSS23):c.275C>A (p.Ala92Asp)	PRSS23 (A92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365218	NM_007173.6(PRSS23):c.278A>G (p.Asn93Ser)	PRSS23 (N93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368231	NM_007173.6(PRSS23):c.316C>T (p.Leu106Phe)	PRSS23 (L106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460212	NM_007173.6(PRSS23):c.352T>C (p.Ser118Pro)	PRSS23 (S118P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294639	NM_007173.6(PRSS23):c.374G>A (p.Arg125Gln)	PRSS23 (R125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398177	NM_007173.6(PRSS23):c.385C>A (p.Gln129Lys)	PRSS23 (Q129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274920	NM_007173.6(PRSS23):c.473C>T (p.Thr158Met)	PRSS23 (T158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517640	NM_007173.6(PRSS23):c.523C>G (p.His175Asp)	PRSS23 (H175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347497	NM_007173.6(PRSS23):c.550G>A (p.Val184Met)	PRSS23 (V184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219833	NM_007173.6(PRSS23):c.593A>G (p.Lys198Arg)	PRSS23 (K198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310676	NM_007173.6(PRSS23):c.643G>A (p.Glu215Lys)	PRSS23 (E215K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219834	NM_007173.6(PRSS23):c.680C>T (p.Thr227Ile)	PRSS23 (T227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310678	NM_007173.6(PRSS23):c.788T>C (p.Ile263Thr)	PRSS23 (I263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219835	NM_007173.6(PRSS23):c.800C>T (p.Pro267Leu)	PRSS23 (P267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310679	NM_007173.6(PRSS23):c.889G>A (p.Val297Ile)	PRSS23 (V297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336276	NM_007173.6(PRSS23):c.898G>A (p.Glu300Lys)	PRSS23 (E300K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398892	NM_007173.6(PRSS23):c.969G>C (p.Arg323Ser)	PRSS23 (R323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396465	NM_007173.6(PRSS23):c.1066A>G (p.Asn356Asp)	PRSS23 (N356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

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