FAM20C[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153015	GRCh38/hg38 7p22.3(chr7:183570-229852)x3	FAM20C	Copy number gain	See cases	GBenign
Select item 1270004	NM_020223.4(FAM20C):c.-400G>A	FAM20C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1245869	NM_020223.4(FAM20C):c.-109C>T	FAM20C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 709117	NM_020223.4(FAM20C):c.6G>A (p.Lys2=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724470	NM_020223.4(FAM20C):c.23G>A (p.Arg8Gln)	FAM20C (R8Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2968405	NM_020223.4(FAM20C):c.24G>C (p.Arg8=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369932	NM_020223.4(FAM20C):c.31G>A (p.Val11Met)	FAM20C (V11M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2327434	NM_020223.4(FAM20C):c.34C>T (p.Leu12Phe)	FAM20C (L12F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1990275	NM_020223.4(FAM20C):c.36C>T (p.Leu12=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005299	NM_020223.4(FAM20C):c.40C>A (p.Leu14Met)	FAM20C (L14M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648728	NM_020223.4(FAM20C):c.42G>C (p.Leu14=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193426	NM_020223.4(FAM20C):c.46G>T (p.Val16Leu)	FAM20C (V16L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1605676	NM_020223.4(FAM20C):c.54G>C (p.Leu18=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517259	NM_020223.4(FAM20C):c.55G>T (p.Val19Leu)	FAM20C (V19L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1964430	NM_020223.4(FAM20C):c.57G>T (p.Val19=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414715	NM_020223.4(FAM20C):c.76G>C (p.Ala26Pro)	FAM20C (A26P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719829	NM_020223.4(FAM20C):c.81G>A (p.Leu27=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033175	NM_020223.4(FAM20C):c.127del (p.Glu43fs)	FAM20C (E43fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2445961	NM_020223.4(FAM20C):c.145G>A (p.Ala49Thr)	FAM20C (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2085256	NM_020223.4(FAM20C):c.147G>A (p.Ala49=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2254747	NM_020223.4(FAM20C):c.152C>T (p.Pro51Leu)	FAM20C (P51L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558888	NM_020223.4(FAM20C):c.155C>T (p.Ala52Val)	FAM20C (A52V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1900478	NM_020223.4(FAM20C):c.157G>T (p.Ala53Ser)	FAM20C (A53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050437	NM_020223.4(FAM20C):c.162_163insCCGAA (p.Val55fs)	FAM20C (V55fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2007263	NM_020223.4(FAM20C):c.169G>C (p.Ala57Pro)	FAM20C (A57P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055473	NM_020223.4(FAM20C):c.171G>T (p.Ala57=)	FAM20C	Single nucleotide variant (synonymous variant)	FAM20C-related disorder	GLikely benign
Select item 1537410	NM_020223.4(FAM20C):c.171G>C (p.Ala57=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 284086	NM_020223.4(FAM20C):c.174C>A (p.Pro58=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2328085	NM_020223.4(FAM20C):c.181G>A (p.Ala61Thr)	FAM20C (A61T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070343	NM_020223.4(FAM20C):c.185A>T (p.Gln62Leu)	FAM20C (Q62L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807041	NM_020223.4(FAM20C):c.189T>G (p.Val63=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 290748	NM_020223.4(FAM20C):c.200C>A (p.Pro67His)	FAM20C (P67H)	Single nucleotide variant (missense variant)	FAM20C-related disorder +3 more	GBenign/Likely benign
Select item 2916737	NM_020223.4(FAM20C):c.201C>T (p.Pro67=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3092257	NM_020223.4(FAM20C):c.203G>A (p.Gly68Glu)	FAM20C (G68E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1405482	NM_020223.4(FAM20C):c.208C>T (p.Pro70Ser)	FAM20C (P70S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466348	NM_020223.4(FAM20C):c.217G>T (p.Ala73Ser)	FAM20C (A73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003925	NM_020223.4(FAM20C):c.231C>T (p.Ala77=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721335	NM_020223.4(FAM20C):c.234C>G (p.Gly78=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 235432	NM_020223.4(FAM20C):c.252C>A (p.Asn84Lys)	FAM20C (N84K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 776188	NM_020223.4(FAM20C):c.267C>T (p.Arg89=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1419539	NM_020223.4(FAM20C):c.298T>A (p.Ser100Thr)	FAM20C (S100T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2078541	NM_020223.4(FAM20C):c.303C>T (p.Asn101=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 970943	NM_020223.4(FAM20C):c.304C>A (p.Leu102Ile)	FAM20C (L102I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 964370	NM_020223.4(FAM20C):c.320T>A (p.Leu107Gln)	FAM20C (L107Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938470	NM_020223.4(FAM20C):c.322_323delinsTT (p.Glu108Leu)	FAM20C (E108L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1605300	NM_020223.4(FAM20C):c.328C>T (p.Leu110=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539779	NM_020223.4(FAM20C):c.332C>G (p.Pro111Arg)	FAM20C (P111R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1917701	NM_020223.4(FAM20C):c.338CGGCCGAGC[3] (p.Glu118_Arg119insProAlaGlu)	FAM20C	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1441324	NM_020223.4(FAM20C):c.343G>A (p.Glu115Lys)	FAM20C (E115K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591157	NM_020223.4(FAM20C):c.344del (p.Glu115fs)	FAM20C (E115fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2413612	NM_020223.4(FAM20C):c.345G>T (p.Glu115Asp)	FAM20C (E115D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591158	NM_020223.4(FAM20C):c.346_347insT (p.Pro116fs)	FAM20C (P116fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 3277358	NM_020223.4(FAM20C):c.347C>G (p.Pro116Arg)	FAM20C (P116R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1393782	NM_020223.4(FAM20C):c.347C>T (p.Pro116Leu)	FAM20C (P116L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3006346	NM_020223.4(FAM20C):c.348G>A (p.Pro116=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172284	NM_020223.4(FAM20C):c.351C>G (p.Ala117=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1107165	NM_020223.4(FAM20C):c.372G>A (p.Arg124=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349647	NM_020223.4(FAM20C):c.379G>A (p.Gly127Ser)	FAM20C (G127S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2180642	NM_020223.4(FAM20C):c.385C>T (p.Leu129=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209149	NM_020223.4(FAM20C):c.386T>G (p.Leu129Arg)	FAM20C (L129R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1926435	NM_020223.4(FAM20C):c.403G>A (p.Ala135Thr)	FAM20C (A135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963382	NM_020223.4(FAM20C):c.417G>T (p.Leu139=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715878	NM_020223.4(FAM20C):c.419T>C (p.Leu140Pro)	FAM20C (L140P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635337	NM_020223.4(FAM20C):c.426C>T (p.Asp142=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372474	NM_020223.4(FAM20C):c.435_461del (p.Arg146_Pro154del)	FAM20C	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 952304	NM_020223.4(FAM20C):c.434C>T (p.Pro145Leu)	FAM20C (P145L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004245	NM_020223.4(FAM20C):c.435G>A (p.Pro145=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3034036	NM_020223.4(FAM20C):c.453_456del (p.Pro152fs)	FAM20C (P152fs)	Deletion (frameshift variant)	FAM20C-related disorder	GLikely pathogenic
Select item 2969533	NM_020223.4(FAM20C):c.453C>T (p.Pro151=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1045368	NM_020223.4(FAM20C):c.458G>A (p.Gly153Asp)	FAM20C (G153D)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia +2 more	GUncertain significance
Select item 2009265	NM_020223.4(FAM20C):c.468A>G (p.Gly156=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3277361	NM_020223.4(FAM20C):c.471C>A (p.Asp157Glu)	FAM20C (D157E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637599	NM_020223.4(FAM20C):c.474del (p.Ser159fs)	FAM20C (S159fs)	Deletion (frameshift variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 736765	NM_020223.4(FAM20C):c.474C>T (p.Ala158=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736842	NM_020223.4(FAM20C):c.480C>T (p.Leu160=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1084690	NM_020223.4(FAM20C):c.481C>T (p.Leu161=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738634	NM_020223.4(FAM20C):c.488G>T (p.Arg163Met)	FAM20C (R163M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1910915	NM_020223.4(FAM20C):c.496G>T (p.Glu166Ter)	FAM20C (E166*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2419181	NM_020223.4(FAM20C):c.499C>G (p.His167Asp)	FAM20C (H167D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974688	NM_020223.4(FAM20C):c.501C>T (p.His167=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420275	NM_020223.4(FAM20C):c.504G>T (p.Pro168=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607829	NM_020223.4(FAM20C):c.506T>C (p.Leu169Pro)	FAM20C (L169P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268152	NM_020223.4(FAM20C):c.517G>A (p.Ala173Thr)	FAM20C (A173T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179090	NM_020223.4(FAM20C):c.519G>A (p.Ala173=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445090	NM_020223.4(FAM20C):c.520G>T (p.Val174Phe)	FAM20C (V174F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228746	NM_020223.4(FAM20C):c.524C>T (p.Pro175Leu)	FAM20C (P175L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2800049	NM_020223.4(FAM20C):c.525G>T (p.Pro175=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1489708	NM_020223.4(FAM20C):c.527C>G (p.Pro176Arg)	FAM20C (P176R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2509004	NM_020223.4(FAM20C):c.535G>A (p.Glu179Lys)	FAM20C (E179K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2904058	NM_020223.4(FAM20C):c.549G>T (p.Leu183=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425691	NM_020223.4(FAM20C):c.553A>G (p.Asn185Asp)	FAM20C (N185D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3092258	NM_020223.4(FAM20C):c.554A>G (p.Asn185Ser)	FAM20C (N185S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1713375	NM_020223.4(FAM20C):c.554A>T (p.Asn185Ile)	FAM20C (N185I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567803	NM_020223.4(FAM20C):c.561C>T (p.Asn187=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183912	NM_020223.4(FAM20C):c.564C>G (p.Ser188Arg)	FAM20C (S188R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504225	NM_020223.4(FAM20C):c.573G>C (p.Arg191Ser)	FAM20C (R191S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428293	NM_020223.4(FAM20C):c.582C>T (p.Pro194=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094359	NM_020223.4(FAM20C):c.599C>T (p.Pro200Leu)	FAM20C (P200L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947840	NM_020223.4(FAM20C):c.600G>A (p.Pro200=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649913	NM_020223.4(FAM20C):c.600G>C (p.Pro200=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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