ClinVar for Gene (Select 7078) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2978697	NM_000362.5(TIMP3):c.558G>A (p.Arg186=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2876599	NM_000362.5(TIMP3):c.501C>T (p.Asp167=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2842329	NM_000362.5(TIMP3):c.461C>T (p.Pro154Leu)	SYN3, TIMP3 (P154L)	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 2840260	NM_000362.5(TIMP3):c.317-14_317-12del	SYN3, TIMP3	Microsatellite (intron variant)	not provided	GLikely benign
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 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 2753463	NM_000362.5(TIMP3):c.605A>T (p.Asp202Val)	SYN3, TIMP3 (D202V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2751268	NM_000362.5(TIMP3):c.534G>T (p.Gln178His)	SYN3, TIMP3 (Q178H)	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 2744334	NM_000362.5(TIMP3):c.500A>C (p.Asp167Ala)	SYN3, TIMP3 (D167A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2728052	NM_000362.5(TIMP3):c.507C>T (p.Leu169=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2696246	NM_000362.5(TIMP3):c.121G>C (p.Val41Leu)	SYN3, TIMP3 (V41L)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
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 2189264	NM_000362.5(TIMP3):c.573C>T (p.Tyr191=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2138441	NM_000362.5(TIMP3):c.322G>A (p.Val108Ile)	SYN3, TIMP3 (V108I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2117985	NM_000362.5(TIMP3):c.523_524delinsTT (p.Pro175Phe)	SYN3, TIMP3 (P175F)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2095194	NM_000362.5(TIMP3):c.316+14C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092791	NM_000362.5(TIMP3):c.386T>C (p.Leu129Pro)	SYN3, TIMP3 (L129P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2024367	NM_000362.5(TIMP3):c.317-14C>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009363	NM_000362.5(TIMP3):c.499G>T (p.Asp167Tyr)	SYN3, TIMP3 (D167Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2002725	NM_000362.5(TIMP3):c.44G>T (p.Ser15Ile)	SYN3, TIMP3 (S15I)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1955088	NM_000362.5(TIMP3):c.438+19G>A	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 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 1939248	NM_000362.5(TIMP3):c.122-13_122-11del	SYN3, TIMP3	Deletion (intron variant)	not provided	GLikely benign
Select item 1933247	NM_000362.5(TIMP3):c.602dup (p.Asp202fs)	SYN3, TIMP3 (D202fs)	Duplication (intron variant +1 more)	not provided	GUncertain significance
Select item 1919104	NM_000362.5(TIMP3):c.132C>G (p.Ala44=)	SYN3, TIMP3	Single nucleotide variant (intron variant +1 more)	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 1914085	NM_000362.5(TIMP3):c.531C>T (p.Tyr177=)	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 1912332	NM_000362.5(TIMP3):c.552C>T (p.Cys184=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1721332	NM_000362.5(TIMP3):c.413G>A (p.Arg138Gln)	SYN3, TIMP3 (R138Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1687491	NM_000362.5(TIMP3):c.454_455insGTA (p.Tyr152delinsCysAsn)	SYN3, TIMP3	Insertion (inframe_indel +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 1654645	NM_000362.5(TIMP3):c.317-18T>C	SYN3, TIMP3	Single nucleotide variant (intron variant)	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 1650068	NM_000362.5(TIMP3):c.205-16T>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637011	NM_000362.5(TIMP3):c.317-10C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	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 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 1625178	NM_000362.5(TIMP3):c.205-14C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1602619	NM_000362.5(TIMP3):c.316+12C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574840	NM_000362.5(TIMP3):c.375C>T (p.Asp125=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1565644	NM_000362.5(TIMP3):c.567C>A (p.Gly189=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1554360	NM_000362.5(TIMP3):c.438+9T>C	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550678	NM_000362.5(TIMP3):c.522C>T (p.Tyr174=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	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 1536540	NM_000362.5(TIMP3):c.204+9T>C	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1534427	NM_000362.5(TIMP3):c.390C>T (p.Ser130=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1533103	NM_000362.5(TIMP3):c.438+20G>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526731	GRCh37/hg19 22q12.3(chr22:33209740-33403536)	SYN3, TIMP3	Copy number loss	not specified	GUncertain significance
Select item 1523797	NM_000362.5(TIMP3):c.602C>T (p.Pro201Leu)	SYN3, TIMP3 (P201L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1520767	NM_000362.5(TIMP3):c.234T>G (p.His78Gln)	SYN3, TIMP3 (H78Q)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1513830	NM_000362.5(TIMP3):c.556C>T (p.Arg186Trp)	SYN3, TIMP3 (R186W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1511267	NM_000362.5(TIMP3):c.484G>A (p.Glu162Lys)	SYN3, TIMP3 (E162K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1510204	NM_000362.5(TIMP3):c.503T>C (p.Met168Thr)	SYN3, TIMP3 (M168T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1492587	NM_000362.5(TIMP3):c.25G>A (p.Val9Met)	SYN3, TIMP3 (V9M)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
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 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 1476665	NM_000362.5(TIMP3):c.499G>A (p.Asp167Asn)	SYN3, TIMP3 (D167N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	KREMEN1, NEFH +71 more	Duplication	not provided	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 1463679	NM_000362.5(TIMP3):c.593G>A (p.Trp198Ter)	SYN3, TIMP3 (W198*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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 1411277	NC_000022.10:g.(?_32232938)_(34157463_?)dup	RFPL3, RFPL3S +13 more	Duplication	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 1407621	NM_000362.5(TIMP3):c.452A>G (p.Tyr151Cys)	SYN3, TIMP3 (Y151C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1402101	NM_000362.5(TIMP3):c.344C>T (p.Thr115Met)	TIMP3, SYN3 (T115M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1398190	NM_000362.5(TIMP3):c.438G>A (p.Lys146=)	TIMP3, SYN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1387372	NM_000362.5(TIMP3):c.586C>T (p.Arg196Ter)	SYN3, TIMP3 (R196*)	Single nucleotide variant (intron 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 1379749	NM_000362.5(TIMP3):c.319C>T (p.Arg107Cys)	SYN3, TIMP3 (R107C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1357033	NM_000362.5(TIMP3):c.24C>A (p.Ile8=)	SYN3, TIMP3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1351499	NM_000362.5(TIMP3):c.542A>G (p.His181Arg)	SYN3, TIMP3 (H181R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1300334	NM_000362.5(TIMP3):c.410A>G (p.Tyr137Cys)	SYN3, TIMP3 (Y137C)	Single nucleotide variant (missense variant +1 more)	not provided	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 1265243	NM_000362.5(TIMP3):c.438+158T>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170821	NM_000362.5(TIMP3):c.567C>T (p.Gly189=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1170518	NM_000362.5(TIMP3):c.360C>T (p.Phe120=)	TIMP3, SYN3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1166669	NM_000362.5(TIMP3):c.519T>C (p.Gly173=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1156742	NM_000362.5(TIMP3):c.205-4A>G	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1144908	NM_000362.5(TIMP3):c.483C>T (p.Asn161=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1144764	NM_000362.5(TIMP3):c.345G>A (p.Thr115=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1144628	NM_000362.5(TIMP3):c.576C>T (p.Cys192=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1134074	NM_000362.5(TIMP3):c.15C>T (p.Leu5=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1125573	NM_000362.5(TIMP3):c.361G>A (p.Val121Met)	SYN3, TIMP3 (V121M)	Single nucleotide variant (missense variant +1 more)	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 1110622	NM_000362.5(TIMP3):c.498C>T (p.Thr166=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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

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