ClinVar for Gene (Select 2535) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280285	NM_001466.4(FZD2):c.1225C>A (p.Leu409Met)	FZD2 (L409M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280284	NM_001466.4(FZD2):c.1222A>G (p.Ser408Gly)	FZD2 (S408G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3236812	NM_001466.4(FZD2):c.859T>C (p.Tyr287His)	FZD2 (Y287H)	Single nucleotide variant (missense variant)	Autosomal dominant omodysplasia	GUncertain significance
Select item 3236370	NM_001466.4(FZD2):c.1640C>T (p.Ser547Leu)	FZD2 (S547L)	Single nucleotide variant (missense variant)	Autosomal dominant omodysplasia	GUncertain significance
Select item 3097666	NM_001466.4(FZD2):c.794C>A (p.Thr265Lys)	FZD2 (T265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097664	NM_001466.4(FZD2):c.384C>G (p.Phe128Leu)	FZD2 (F128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097662	NM_001466.4(FZD2):c.1667C>T (p.Thr556Ile)	FZD2 (T556I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097661	NM_001466.4(FZD2):c.1526A>C (p.His509Pro)	FZD2 (H509P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097660	NM_001466.4(FZD2):c.1462G>A (p.Glu488Lys)	FZD2 (E488K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057013	NM_001466.4(FZD2):c.510G>C (p.Pro170=)	FZD2	Single nucleotide variant (synonymous variant)	FZD2-related disorder	GLikely benign
Select item 3056809	NM_001466.4(FZD2):c.549G>C (p.Pro183=)	FZD2	Single nucleotide variant (synonymous variant)	FZD2-related disorder	GLikely benign
Select item 3056431	NM_001466.4(FZD2):c.546C>T (p.Gly182=)	FZD2	Single nucleotide variant (synonymous variant)	FZD2-related disorder	GLikely benign
Select item 3055837	NM_001466.4(FZD2):c.513A>G (p.Gly171=)	FZD2	Single nucleotide variant (synonymous variant)	FZD2-related disorder	GLikely benign
Select item 3043146	NM_001466.4(FZD2):c.369C>T (p.Ala123=)	FZD2	Single nucleotide variant (synonymous variant)	FZD2-related disorder	GLikely benign
Select item 3025896	NM_001466.4(FZD2):c.481C>T (p.Pro161Ser)	FZD2 (P161S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017313	NM_001466.4(FZD2):c.127T>G (p.Ser43Ala)	FZD2 (S43A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996740	NM_001466.4(FZD2):c.651C>G (p.Gly217=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2977660	NM_001466.4(FZD2):c.15C>G (p.Ser5Arg)	FZD2 (S5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972344	NM_001466.4(FZD2):c.1156A>G (p.Thr386Ala)	FZD2 (T386A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971650	NM_001466.4(FZD2):c.1135G>T (p.Val379Leu)	FZD2 (V379L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969637	NM_001466.4(FZD2):c.551GCG[5] (p.Gly187_Ala188insGly)	FZD2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2967740	NM_001466.4(FZD2):c.1134C>G (p.Ala378=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963282	NM_001466.4(FZD2):c.41TGC[5] (p.Leu17_Pro18insLeu)	FZD2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2956590	NM_001466.4(FZD2):c.475G>C (p.Gly159Arg)	FZD2 (G159R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910434	NM_001466.4(FZD2):c.1640C>A (p.Ser547Ter)	FZD2 (S547*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2909736	NM_001466.4(FZD2):c.283A>T (p.Met95Leu)	FZD2 (M95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908986	NM_001466.4(FZD2):c.633C>T (p.Leu211=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908634	NM_001466.4(FZD2):c.372C>A (p.Leu124=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894731	NM_001466.4(FZD2):c.476G>C (p.Gly159Ala)	FZD2 (G159A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885047	NM_001466.4(FZD2):c.1140G>A (p.Pro380=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881831	NM_001466.4(FZD2):c.1206C>T (p.Cys402=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878564	NM_001466.4(FZD2):c.435C>G (p.Gly145=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873543	NM_001466.4(FZD2):c.419A>G (p.His140Arg)	FZD2 (H140R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872804	NM_001466.4(FZD2):c.521C>T (p.Pro174Leu)	FZD2 (P174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869354	NM_001466.4(FZD2):c.524G>T (p.Gly175Val)	FZD2 (G175V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869148	NM_001466.4(FZD2):c.4C>A (p.Arg2=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2856341	NM_001466.4(FZD2):c.598C>T (p.His200Tyr)	FZD2 (H200Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851826	NM_001466.4(FZD2):c.1202T>G (p.Val401Gly)	FZD2 (V401G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851028	NM_001466.4(FZD2):c.791C>G (p.Thr264Ser)	FZD2 (T264S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833706	NM_001466.4(FZD2):c.1A>G (p.Met1Val)	FZD2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2810401	NM_001466.4(FZD2):c.967AAG[1] (p.Lys324del)	FZD2 (K324del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2801662	NM_001466.4(FZD2):c.266G>T (p.Arg89Leu)	FZD2 (R89L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722978	NM_001466.4(FZD2):c.403C>A (p.Arg135Ser)	FZD2 (R135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715052	NM_001466.4(FZD2):c.685C>A (p.Arg229=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2709113	NM_001466.4(FZD2):c.724C>G (p.Arg242Gly)	FZD2 (R242G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704410	NM_001466.4(FZD2):c.1630A>G (p.Thr544Ala)	FZD2 (T544A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633385	NM_001466.4(FZD2):c.937G>C (p.Asp313His)	FZD2 (D313H)	Single nucleotide variant (missense variant)	FZD2-related disorder	GUncertain significance
Select item 2630427	NM_001466.4(FZD2):c.922G>C (p.Glu308Gln)	FZD2 (E308Q)	Single nucleotide variant (missense variant)	FZD2-related disorder	GUncertain significance
Select item 2604450	NM_001466.4(FZD2):c.745C>T (p.Leu249Phe)	FZD2 (L249F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552228	NM_001466.4(FZD2):c.76C>G (p.His26Asp)	FZD2 (H26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521824	NM_001466.4(FZD2):c.524G>A (p.Gly175Asp)	FZD2 (G175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497890	NM_001466.4(FZD2):c.1163T>G (p.Leu388Arg)	FZD2 (L388R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491323	NM_001466.4(FZD2):c.532G>A (p.Gly178Ser)	FZD2 (G178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470742	NM_001466.4(FZD2):c.436G>T (p.Ala146Ser)	FZD2 (A146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444708	NM_001466.4(FZD2):c.809T>C (p.Met270Thr)	FZD2 (M270T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441595	NM_001466.4(FZD2):c.407T>A (p.Leu136Gln)	FZD2 (L136Q)	Single nucleotide variant (missense variant)	Autosomal dominant omodysplasia	GUncertain significance
Select item 2424182	NC_000017.10:g.(?_42635057)_(42636754_?)del	FZD2	Deletion	not provided	GUncertain significance
Select item 2414392	NM_001466.4(FZD2):c.1583C>T (p.Thr528Met)	FZD2 (T528M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2391045	NM_001466.4(FZD2):c.530G>C (p.Gly177Ala)	FZD2 (G177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391044	NM_001466.4(FZD2):c.519G>C (p.Gln173His)	FZD2 (Q173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390578	NM_001466.4(FZD2):c.542G>C (p.Gly181Ala)	FZD2 (G181A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388526	NM_001466.4(FZD2):c.529G>C (p.Gly177Arg)	FZD2 (G177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376886	NM_001466.4(FZD2):c.562G>T (p.Ala188Ser)	FZD2 (A188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322650	NM_001466.4(FZD2):c.302C>T (p.Thr101Ile)	FZD2 (T101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266137	NM_001466.4(FZD2):c.248A>G (p.Gln83Arg)	FZD2 (Q83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251672	NM_001466.4(FZD2):c.1342G>T (p.Asp448Tyr)	FZD2 (D448Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234728	NM_001466.4(FZD2):c.1343A>G (p.Asp448Gly)	FZD2 (D448G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227443	NM_001466.4(FZD2):c.1390G>A (p.Val464Ile)	FZD2 (V464I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2189251	NM_001466.4(FZD2):c.852G>C (p.Ser284=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183716	NM_001466.4(FZD2):c.168C>T (p.Ile56=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2178752	NM_001466.4(FZD2):c.803T>C (p.Val268Ala)	FZD2 (V268A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2178661	NM_001466.4(FZD2):c.616A>C (p.Lys206Gln)	FZD2 (K206Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2129342	NM_001466.4(FZD2):c.310G>C (p.Glu104Gln)	FZD2 (E104Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126954	NM_001466.4(FZD2):c.495C>T (p.Thr165=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2124392	NM_001466.4(FZD2):c.911T>C (p.Val304Ala)	FZD2 (V304A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122193	NM_001466.4(FZD2):c.1162C>T (p.Leu388=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116440	NM_001466.4(FZD2):c.1693G>A (p.Val565Met)	FZD2 (V565M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098245	NM_001466.4(FZD2):c.423C>T (p.Phe141=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089094	NM_001466.4(FZD2):c.99C>G (p.Ile33Met)	FZD2 (I33M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071636	NM_001466.4(FZD2):c.926G>T (p.Arg309Leu)	FZD2 (R309L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065990	NM_001466.4(FZD2):c.1675C>G (p.Arg559Gly)	FZD2 (R559G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2038257	NM_001466.4(FZD2):c.1126G>T (p.Ala376Ser)	FZD2 (A376S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036094	NM_001466.4(FZD2):c.483C>G (p.Pro161=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032234	NM_001466.4(FZD2):c.711A>C (p.Ser237=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2032131	NM_001466.4(FZD2):c.1693G>T (p.Val565Leu)	FZD2 (V565L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031152	NM_001466.4(FZD2):c.471G>A (p.Glu157=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1996836	NM_001466.4(FZD2):c.266_267delinsTT (p.Arg89Leu)	FZD2 (R89L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1990441	NM_001466.4(FZD2):c.1649A>G (p.Lys550Arg)	FZD2 (K550R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966464	NM_001466.4(FZD2):c.1308G>T (p.Val436=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961348	NM_001466.4(FZD2):c.705C>G (p.Phe235Leu)	FZD2 (F235L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960309	NM_001466.4(FZD2):c.367G>A (p.Ala123Thr)	FZD2 (A123T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1960300	NM_001466.4(FZD2):c.1110G>T (p.Gln370His)	FZD2 (Q370H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948717	NM_001466.4(FZD2):c.1521G>A (p.Pro507=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943998	NM_001466.4(FZD2):c.57C>G (p.Ala19=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939143	NM_001466.4(FZD2):c.456C>A (p.Gly152=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918957	NM_001466.4(FZD2):c.469G>A (p.Glu157Lys)	FZD2 (E157K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917819	NM_001466.4(FZD2):c.971A>T (p.Lys324Met)	FZD2 (K324M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910681	NM_001466.4(FZD2):c.54C>T (p.Pro18=)	FZD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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