FAM20C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148100	GRCh38/hg38 7p22.3(chr7:10239-229852)x3	FAM20C, LINC03014 +5 more	Copy number gain	See cases	GBenign
Select item 151562	GRCh38/hg38 7p22.3(chr7:36480-227774)x3	FAM20C, LINC03014 +5 more	Copy number gain	See cases	GBenign
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 155274	GRCh38/hg38 7p22.3(chr7:45130-1298050)x1	LOC129997762, LOC129997763 +102 more	Copy number loss	See cases	GUncertain significance
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	AMZ1, ADAP1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 149320	GRCh38/hg38 7p22.3(chr7:45130-821632)x1	DNAAF5, FAM20C +45 more	Copy number loss	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC129997784, LOC129997785 +245 more	Copy number loss	See cases	GPathogenic
Select item 150435	GRCh38/hg38 7p22.3(chr7:54165-227860)x3	FAM20C, LINC03014 +5 more	Copy number gain	See cases	GLikely benign
Select item 150074	GRCh38/hg38 7p22.3(chr7:54165-214573)x1	FAM20C, LINC03014 +5 more	Copy number loss	See cases	GBenign
Select item 149904	GRCh38/hg38 7p22.3(chr7:54165-725325)x1	FAM20C, FOXL3 +33 more	Copy number loss	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 148079	GRCh38/hg38 7p22.3(chr7:54185-1331046)x1	ADAP1, C7orf50 +102 more	Copy number loss	See cases	GUncertain significance
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144710	GRCh38/hg38 7p22.3(chr7:54185-1206119)x3	ADAP1, C7orf50 +97 more	Copy number gain	See cases	GUncertain significance
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 154753	GRCh38/hg38 7p22.3(chr7:94063-227860)x3	FAM20C, LINC03014 +4 more	Copy number gain	See cases	GLikely benign
Select item 161021	GRCh38/hg38 7p22.3(chr7:101528-227833)x3	FAM20C, LINC03014 +3 more	Copy number gain	See cases	GBenign
Select item 33886	GRCh38/hg38 7p22.3(chr7:101528-227833)x3	FAM20C, LINC03014 +3 more	Copy number gain	See cases	GBenign
Select item 150722	GRCh38/hg38 7p22.3(chr7:127155-214573)x3	FAM20C, LINC03014 +3 more	Copy number gain	See cases	GBenign
Select item 58862	GRCh38/hg38 7p22.3(chr7:170366-227833)x1	FAM20C, LOC105375115	Copy number loss	See cases	GUncertain significance
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 condition	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)	not provided +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 1393782	NM_020223.4(FAM20C):c.347C>T (p.Pro116Leu)	FAM20C (P116L)	Single nucleotide variant (missense variant)	not provided	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)	Inborn genetic diseases +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 condition	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

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