ClinVar for Gene (Select 166752) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279847	NM_001168235.2(FREM3):c.715G>A (p.Gly239Ser)	FREM3 (G239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279846	NM_001168235.2(FREM3):c.4453T>C (p.Ser1485Pro)	FREM3 (S1485P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279845	NM_001168235.2(FREM3):c.1927A>T (p.Thr643Ser)	FREM3 (T643S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279844	NM_001168235.2(FREM3):c.4460C>T (p.Thr1487Ile)	FREM3 (T1487I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279842	NM_001168235.2(FREM3):c.941T>C (p.Met314Thr)	FREM3 (M314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279841	NM_001168235.2(FREM3):c.2316C>G (p.Ile772Met)	FREM3 (I772M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279840	NM_001168235.2(FREM3):c.3667C>A (p.Leu1223Met)	FREM3 (L1223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279839	NM_001168235.2(FREM3):c.703C>T (p.Pro235Ser)	FREM3 (P235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279838	NM_001168235.2(FREM3):c.440C>T (p.Ala147Val)	FREM3 (A147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279837	NM_001168235.2(FREM3):c.1767A>C (p.Lys589Asn)	FREM3 (K589N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279836	NM_001168235.2(FREM3):c.997G>A (p.Glu333Lys)	FREM3 (E333K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279835	NM_001168235.2(FREM3):c.4808A>G (p.Lys1603Arg)	FREM3 (K1603R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279834	NM_001168235.2(FREM3):c.394C>T (p.His132Tyr)	FREM3 (H132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279833	NM_001168235.2(FREM3):c.5299C>A (p.Pro1767Thr)	FREM3 (P1767T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279830	NM_001168235.2(FREM3):c.1559G>A (p.Arg520Gln)	FREM3 (R520Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279829	NM_001168235.2(FREM3):c.3997A>G (p.Thr1333Ala)	FREM3 (T1333A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279828	NM_001168235.2(FREM3):c.572G>A (p.Arg191Lys)	FREM3 (R191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279827	NM_001168235.2(FREM3):c.2484G>C (p.Gln828His)	FREM3 (Q828H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279826	NM_001168235.2(FREM3):c.2900T>C (p.Ile967Thr)	FREM3 (I967T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279825	NM_001168235.2(FREM3):c.1221G>C (p.Glu407Asp)	FREM3 (E407D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279824	NM_001168235.2(FREM3):c.2663A>T (p.Glu888Val)	FREM3 (E888V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279823	NM_001168235.2(FREM3):c.197A>G (p.Asn66Ser)	FREM3 (N66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279822	NM_001168235.2(FREM3):c.6020G>A (p.Arg2007His)	FREM3 (R2007H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3279820	NM_001168235.2(FREM3):c.2485C>T (p.Pro829Ser)	FREM3 (P829S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279819	NM_001168235.2(FREM3):c.6232C>T (p.Arg2078Cys)	FREM3 (R2078C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279818	NM_001168235.2(FREM3):c.1973G>T (p.Arg658Leu)	FREM3 (R658L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096858	NM_001168235.2(FREM3):c.967A>C (p.Thr323Pro)	FREM3 (T323P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096857	NM_001168235.2(FREM3):c.930G>T (p.Met310Ile)	FREM3 (M310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096856	NM_001168235.2(FREM3):c.901G>A (p.Glu301Lys)	FREM3 (E301K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096855	NM_001168235.2(FREM3):c.83C>A (p.Ala28Glu)	FREM3 (A28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096854	NM_001168235.2(FREM3):c.6323C>T (p.Pro2108Leu)	FREM3 (P2108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096853	NM_001168235.2(FREM3):c.6233G>T (p.Arg2078Leu)	FREM3 (R2078L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096852	NM_001168235.2(FREM3):c.6080G>A (p.Arg2027His)	FREM3 (R2027H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096851	NM_001168235.2(FREM3):c.6019C>T (p.Arg2007Cys)	FREM3 (R2007C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096850	NM_001168235.2(FREM3):c.5923G>A (p.Glu1975Lys)	FREM3 (E1975K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096849	NM_001168235.2(FREM3):c.5873A>G (p.Asn1958Ser)	FREM3 (N1958S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096848	NM_001168235.2(FREM3):c.5525G>T (p.Arg1842Met)	FREM3 (R1842M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096847	NM_001168235.2(FREM3):c.5090A>C (p.His1697Pro)	FREM3 (H1697P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096846	NM_001168235.2(FREM3):c.4772G>A (p.Arg1591His)	FREM3 (R1591H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096845	NM_001168235.2(FREM3):c.4165C>G (p.His1389Asp)	FREM3 (H1389D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096844	NM_001168235.2(FREM3):c.4027A>C (p.Ser1343Arg)	FREM3 (S1343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096842	NM_001168235.2(FREM3):c.3676A>G (p.Asn1226Asp)	FREM3 (N1226D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096841	NM_001168235.2(FREM3):c.3302A>G (p.His1101Arg)	FREM3 (H1101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096839	NM_001168235.2(FREM3):c.2867C>T (p.Ser956Phe)	FREM3 (S956F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096838	NM_001168235.2(FREM3):c.2819A>C (p.Asn940Thr)	FREM3 (N940T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096837	NM_001168235.2(FREM3):c.2698G>A (p.Val900Ile)	FREM3 (V900I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096835	NM_001168235.2(FREM3):c.2455A>T (p.Thr819Ser)	FREM3 (T819S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096834	NM_001168235.2(FREM3):c.2395G>A (p.Val799Ile)	FREM3 (V799I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096833	NM_001168235.2(FREM3):c.2381G>A (p.Gly794Asp)	FREM3 (G794D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096832	NM_001168235.2(FREM3):c.2156A>T (p.Gln719Leu)	FREM3 (Q719L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096831	NM_001168235.2(FREM3):c.2006T>C (p.Met669Thr)	FREM3 (M669T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096830	NM_001168235.2(FREM3):c.19C>T (p.His7Tyr)	FREM3 (H7Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096829	NM_001168235.2(FREM3):c.1832G>A (p.Gly611Glu)	FREM3 (G611E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096828	NM_001168235.2(FREM3):c.1690C>T (p.Pro564Ser)	FREM3 (P564S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096827	NM_001168235.2(FREM3):c.1533C>A (p.Asn511Lys)	FREM3 (N511K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096826	NM_001168235.2(FREM3):c.1436G>C (p.Gly479Ala)	FREM3 (G479A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096825	NM_001168235.2(FREM3):c.1402G>T (p.Val468Leu)	FREM3 (V468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096824	NM_001168235.2(FREM3):c.1375A>G (p.Ile459Val)	FREM3 (I459V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096823	NM_001168235.2(FREM3):c.1237G>A (p.Gly413Ser)	FREM3 (G413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096822	NM_001168235.2(FREM3):c.1174C>T (p.Pro392Ser)	FREM3 (P392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2655108	NM_001168235.2(FREM3):c.933C>T (p.Ala311=)	FREM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655107	NM_001168235.2(FREM3):c.1431A>G (p.Arg477=)	FREM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655106	NM_001168235.2(FREM3):c.1695T>C (p.Phe565=)	FREM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655105	NM_001168235.2(FREM3):c.2067C>T (p.His689=)	FREM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655104	NM_001168235.2(FREM3):c.2847T>C (p.Ser949=)	FREM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655103	NM_001168235.2(FREM3):c.5994C>T (p.Thr1998=)	FREM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619874	NM_001168235.2(FREM3):c.4582A>T (p.Ile1528Phe)	FREM3 (I1528F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616998	NM_001168235.2(FREM3):c.4414C>T (p.His1472Tyr)	FREM3 (H1472Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615305	NM_001168235.2(FREM3):c.10G>T (p.Ala4Ser)	FREM3 (A4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614721	NM_001168235.2(FREM3):c.5401C>T (p.Leu1801Phe)	FREM3 (L1801F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614608	NM_001168235.2(FREM3):c.4964T>C (p.Leu1655Ser)	FREM3 (L1655S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595758	NM_001168235.2(FREM3):c.631A>G (p.Thr211Ala)	FREM3 (T211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594735	NM_001168235.2(FREM3):c.970G>T (p.Ala324Ser)	FREM3 (A324S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594734	NM_001168235.2(FREM3):c.3946A>C (p.Lys1316Gln)	FREM3 (K1316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594733	NM_001168235.2(FREM3):c.3757C>G (p.His1253Asp)	FREM3 (H1253D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593546	NM_001168235.2(FREM3):c.6146G>A (p.Arg2049His)	FREM3 (R2049H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592520	NM_001168235.2(FREM3):c.3107G>T (p.Ser1036Ile)	FREM3 (S1036I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590696	NM_001168235.2(FREM3):c.893G>A (p.Gly298Asp)	FREM3 (G298D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570297	NM_001168235.2(FREM3):c.6139G>A (p.Ala2047Thr)	FREM3 (A2047T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569949	NM_001168235.2(FREM3):c.1835A>C (p.Asp612Ala)	FREM3 (D612A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568589	NM_001168235.2(FREM3):c.692G>A (p.Gly231Glu)	FREM3 (G231E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568400	NM_001168235.2(FREM3):c.5800T>G (p.Ser1934Ala)	FREM3 (S1934A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564113	NM_001168235.2(FREM3):c.6233G>A (p.Arg2078His)	FREM3 (R2078H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2564037	NM_001168235.2(FREM3):c.3605A>G (p.Lys1202Arg)	FREM3 (K1202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561660	NM_001168235.2(FREM3):c.1161T>G (p.Ile387Met)	FREM3 (I387M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557627	NM_001168235.2(FREM3):c.2875G>A (p.Val959Ile)	FREM3 (V959I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554603	NM_001168235.2(FREM3):c.3589T>G (p.Phe1197Val)	FREM3 (F1197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551636	NM_001168235.2(FREM3):c.2440G>A (p.Val814Met)	FREM3 (V814M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548771	NM_001168235.2(FREM3):c.5773C>T (p.Arg1925Cys)	FREM3 (R1925C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547023	NM_001168235.2(FREM3):c.1540A>G (p.Ser514Gly)	FREM3 (S514G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544467	NM_001168235.2(FREM3):c.1993C>A (p.Pro665Thr)	FREM3 (P665T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539044	NM_001168235.2(FREM3):c.5125G>C (p.Glu1709Gln)	FREM3 (E1709Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538763	NM_001168235.2(FREM3):c.1475A>G (p.Tyr492Cys)	FREM3 (Y492C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538390	NM_001168235.2(FREM3):c.3221T>C (p.Val1074Ala)	FREM3 (V1074A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536956	NM_001168235.2(FREM3):c.1421G>A (p.Arg474Lys)	FREM3 (R474K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536287	NM_001168235.2(FREM3):c.2287G>A (p.Val763Met)	FREM3 (V763M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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