TIMP3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 369376	NC_000022.11:g.32800802C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	Fundus dystrophy, pseudoinflammatory, recessive form	GLikely benign
Select item 341325	NM_000362.4(TIMP3):c.-1171G>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341326	NM_000362.4(TIMP3):c.-1136G>C	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341327	NM_000362.4(TIMP3):c.-1082C>G	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341328	NM_000362.4(TIMP3):c.-914A>G	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GBenign
Select item 341330	NM_000362.4(TIMP3):c.-898T>C	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GLikely benign
Select item 341329	NM_000362.4(TIMP3):c.-898T>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GBenign
Select item 903602	NM_000362.4(TIMP3):c.-760G>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341331	NM_000362.4(TIMP3):c.-684T>C	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 903603	NM_000362.4(TIMP3):c.-557A>C	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341332	NM_000362.4(TIMP3):c.-533G>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GBenign
Select item 903604	NM_000362.4(TIMP3):c.-488C>T	TIMP3, SYN3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341333	NM_000362.4(TIMP3):c.-471C>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GBenign
Select item 341334	NM_000362.4(TIMP3):c.-433C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341335	NM_000362.4(TIMP3):c.-407G>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341336	NM_000362.4(TIMP3):c.-390C>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341337	NM_000362.4(TIMP3):c.-330C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341338	NM_000362.4(TIMP3):c.-304G>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 900005	NM_000362.5(TIMP3):c.-284G>C	SYN3, TIMP3	Single nucleotide variant (5 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 900006	NM_000362.5(TIMP3):c.-274G>C	SYN3, TIMP3	Single nucleotide variant (5 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341339	NM_000362.5(TIMP3):c.-270G>T	TIMP3, SYN3	Single nucleotide variant (5 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341340	NM_000362.5(TIMP3):c.-117G>A	SYN3, TIMP3	Single nucleotide variant (5 prime UTR variant +1 more)	Sorsby fundus dystrophy +1 more	GBenign
Select item 341341	NM_000362.5(TIMP3):c.-105G>C	SYN3, TIMP3	Single nucleotide variant (5 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 965689	NM_000362.5(TIMP3):c.7C>T (p.Pro3Ser)	SYN3, TIMP3 (P3S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1386391	NM_000362.5(TIMP3):c.11G>C (p.Trp4Ser)	SYN3, TIMP3 (W4S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 837921	NM_000362.5(TIMP3):c.13C>T (p.Leu5Phe)	SYN3, TIMP3 (L5F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1134074	NM_000362.5(TIMP3):c.15C>T (p.Leu5=)	TIMP3, SYN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1633891	NM_000362.5(TIMP3):c.21C>T (p.Leu7=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1357033	NM_000362.5(TIMP3):c.24C>A (p.Ile8=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1492587	NM_000362.5(TIMP3):c.25G>A (p.Val9Met)	SYN3, TIMP3 (V9M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1052941	NM_000362.5(TIMP3):c.28C>T (p.Leu10Phe)	SYN3, TIMP3 (L10F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1059457	NM_000362.5(TIMP3):c.29T>A (p.Leu10His)	TIMP3, SYN3 (L10H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 866542	NM_000362.5(TIMP3):c.34G>C (p.Gly12Arg)	SYN3, TIMP3 (G12R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2002725	NM_000362.5(TIMP3):c.44G>T (p.Ser15Ile)	SYN3, TIMP3 (S15I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1091978	NM_000362.5(TIMP3):c.45C>T (p.Ser15=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3177580	NM_000362.5(TIMP3):c.47T>C (p.Leu16Pro)	SYN3, TIMP3 (L16P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1284276	NM_000362.5(TIMP3):c.51G>T (p.Gly17=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1375822	NM_000362.5(TIMP3):c.52G>T (p.Asp18Tyr)	SYN3, TIMP3 (D18Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2841919	NM_000362.5(TIMP3):c.53A>G (p.Asp18Gly)	SYN3, TIMP3 (D18G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939432	NM_000362.5(TIMP3):c.64G>C (p.Glu22Gln)	SYN3, TIMP3 (E22Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2910478	NM_000362.5(TIMP3):c.70T>C (p.Cys24Arg)	SYN3, TIMP3 (C24R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2751032	NM_000362.5(TIMP3):c.70T>G (p.Cys24Gly)	SYN3, TIMP3 (C24G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 938270	NM_000362.5(TIMP3):c.71G>T (p.Cys24Phe)	SYN3, TIMP3 (C24F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3358188	NM_000362.5(TIMP3):c.75A>G (p.Thr25=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	TIMP3-related disorder	GLikely benign
Select item 1630954	NM_000362.5(TIMP3):c.93C>G (p.Pro31=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1490697	NM_000362.5(TIMP3):c.110A>G (p.Asn37Ser)	SYN3, TIMP3 (N37S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 843268	NM_000362.5(TIMP3):c.113C>G (p.Ser38Cys)	SYN3, TIMP3 (S38C)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1449799	NM_000362.5(TIMP3):c.118A>G (p.Ile40Val)	SYN3, TIMP3 (I40V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006100	NM_000362.5(TIMP3):c.120C>G (p.Ile40Met)	SYN3, TIMP3 (I40M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2696246	NM_000362.5(TIMP3):c.121G>C (p.Val41Leu)	SYN3, TIMP3 (V41L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 341342	NM_000362.5(TIMP3):c.121+4A>G	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 740469	NM_000362.5(TIMP3):c.121+8C>T	TIMP3, SYN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917292	NM_000362.5(TIMP3):c.121+22_121+25del	SYN3, TIMP3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1544523	NM_000362.5(TIMP3):c.122-20G>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939248	NM_000362.5(TIMP3):c.122-13_122-11del	SYN3, TIMP3	Deletion (intron variant)	not provided	GLikely benign
Select item 865785	NM_000362.5(TIMP3):c.128G>A (p.Arg43Gln)	SYN3, TIMP3 (R43Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1161664	NM_000362.5(TIMP3):c.129G>A (p.Arg43=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919104	NM_000362.5(TIMP3):c.132C>G (p.Ala44=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1653360	NM_000362.5(TIMP3):c.138G>C (p.Val46=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1379656	NM_000362.5(TIMP3):c.154G>A (p.Val52Ile)	SYN3, TIMP3 (V52I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2813621	NM_000362.5(TIMP3):c.163G>A (p.Gly55Arg)	SYN3, TIMP3 (G55R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 939214	NM_000362.5(TIMP3):c.166C>T (p.Pro56Ser)	TIMP3, SYN3 (P56S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1622091	NM_000362.5(TIMP3):c.171C>T (p.Phe57=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 901169	NM_000362.5(TIMP3):c.171C>G (p.Phe57Leu)	SYN3, TIMP3 (F57L)	Single nucleotide variant (missense variant +1 more)	Sorsby fundus dystrophy +1 more	GUncertain significance
Select item 1465300	NM_000362.5(TIMP3):c.172G>A (p.Gly58Ser)	SYN3, TIMP3 (G58S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1060072	NM_000362.5(TIMP3):c.176C>T (p.Thr59Met)	SYN3, TIMP3 (T59M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1130131	NM_000362.5(TIMP3):c.177G>A (p.Thr59=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3177578	NM_000362.5(TIMP3):c.187A>G (p.Thr63Ala)	SYN3, TIMP3 (T63A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1536540	NM_000362.5(TIMP3):c.204+9T>C	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951897	NM_000362.5(TIMP3):c.204+14T>C	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650068	NM_000362.5(TIMP3):c.205-16T>A	TIMP3, SYN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625178	NM_000362.5(TIMP3):c.205-14C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1156742	NM_000362.5(TIMP3):c.205-4A>G	TIMP3, SYN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1122800	NM_000362.5(TIMP3):c.216C>T (p.Gly72=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2301047	NM_000362.5(TIMP3):c.225G>C (p.Lys75Asn)	SYN3, TIMP3 (K75N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177579	NM_000362.5(TIMP3):c.232C>G (p.His78Asp)	SYN3, TIMP3 (H78D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1520767	NM_000362.5(TIMP3):c.234T>G (p.His78Gln)	SYN3, TIMP3 (H78Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2810958	NM_000362.5(TIMP3):c.244A>G (p.Ile82Val)	SYN3, TIMP3 (I82V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1143263	NM_000362.5(TIMP3):c.246C>T (p.Ile82=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 255943	NM_000362.5(TIMP3):c.249T>C (p.His83=)	TIMP3, SYN3	Single nucleotide variant (synonymous variant +1 more)	Fundus dystrophy, pseudoinflammatory, recessive form +3 more	GBenign
Select item 1492262	NM_000362.5(TIMP3):c.252G>A (p.Thr84=)	SYN3, TIMP3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 593855	NM_000362.5(TIMP3):c.255A>G (p.Glu85=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1083950	NM_000362.5(TIMP3):c.261C>A (p.Ser87=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 341343	NM_000362.5(TIMP3):c.261C>T (p.Ser87=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1004336	NM_000362.5(TIMP3):c.271T>C (p.Cys91Arg)	SYN3, TIMP3 (C91R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1109280	NM_000362.5(TIMP3):c.276C>A (p.Gly92=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 341344	NM_000362.5(TIMP3):c.289G>A (p.Val97Ile)	SYN3, TIMP3 (V97I)	Single nucleotide variant (missense variant +1 more)	Sorsby fundus dystrophy +1 more	GBenign
Select item 1569274	NM_000362.5(TIMP3):c.303G>A (p.Gln101=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1108998	NM_000362.5(TIMP3):c.306C>T (p.Tyr102=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1914044	NM_000362.5(TIMP3):c.309G>A (p.Leu103=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 545105	NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro)	SYN3, TIMP3 (L104P)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation	GLikely pathogenic
Select item 958541	NM_000362.5(TIMP3):c.316+5T>C	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1602619	NM_000362.5(TIMP3):c.316+12C>T	TIMP3, SYN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095194	NM_000362.5(TIMP3):c.316+14C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840260	NM_000362.5(TIMP3):c.317-14_317-12del	SYN3, TIMP3	Microsatellite (intron variant)	not provided	GLikely benign

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