FAM20A[gene] and "single gene"[properties] - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1289882	NM_017565.4(FAM20A):c.719+149AAT[15]	FAM20A	Microsatellite (intron variant)	not provided	GBenign
Select item 1288517	NM_017565.4(FAM20A):c.719+149AAT[13]	FAM20A	Microsatellite (intron variant)	not provided	GBenign
Select item 1280107	NM_017565.4(FAM20A):c.719+149AAT[14]	FAM20A	Microsatellite (intron variant)	not provided	GBenign
Select item 1283037	NM_017565.4(FAM20A):c.719+149AAT[11]	FAM20A	Microsatellite (intron variant)	not provided	GBenign
Select item 1183134	NM_017565.4(FAM20A):c.719+149_719+156del	FAM20A	Deletion (intron variant)	not provided	GBenign
Select item 1258428	NM_017565.4(FAM20A):c.719+148_719+149insATGATAATA	FAM20A	Microsatellite (intron variant)	not provided	GBenign
Select item 1182138	NM_017565.4(FAM20A):c.719+148_719+149insATGATAATAATA	FAM20A	Microsatellite (intron variant)	not provided	GBenign
Select item 3047779	NM_017565.4(FAM20A):c.712C>T (p.Pro238Ser)	FAM20A (P100S +1 more)	Single nucleotide variant (missense variant +1 more)	FAM20A-related disorder	GUncertain significance
Select item 2106203	NM_017565.4(FAM20A):c.681G>A (p.Arg227=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1349143	NM_017565.4(FAM20A):c.680G>A (p.Arg227Lys)	FAM20A (R227K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1241587	NM_017565.4(FAM20A):c.641-302dup	FAM20A	Duplication (intron variant)	not provided	GBenign
Select item 1224615	NM_017565.4(FAM20A):c.640+31C>T	FAM20A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1991948	NM_017565.4(FAM20A):c.640+20C>G	FAM20A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239725	NM_017565.4(FAM20A):c.640+11T>C	FAM20A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2664908	NM_017565.4(FAM20A):c.626dup (p.Cys209fs)	FAM20A (C209fs +1 more)	Duplication (frameshift variant +1 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 2238111	NM_017565.4(FAM20A):c.625T>C (p.Cys209Arg)	FAM20A (C209R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228726	NM_017565.4(FAM20A):c.625T>A (p.Cys209Ser)	FAM20A (C209S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1967305	NM_017565.4(FAM20A):c.613T>A (p.Leu205Met)	FAM20A (L205M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 139650	NM_017565.4(FAM20A):c.612del (p.Leu205fs)	FAM20A (L205fs +1 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1G	GPathogenic
Select item 2445460	NM_017565.4(FAM20A):c.610del (p.Ala204fs)	FAM20A (A204fs +1 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 2544633	NM_017565.4(FAM20A):c.592T>C (p.Tyr198His)	FAM20A (Y60H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 35478	NM_017565.4(FAM20A):c.590-2A>G	FAM20A	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta type 1G	GPathogenic
Select item 1232600	NM_017565.4(FAM20A):c.590-42A>G	FAM20A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186461	NM_017565.4(FAM20A):c.589+248G>A	FAM20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1476030	NM_017565.4(FAM20A):c.562A>G (p.Met188Val)	FAM20A (M50V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 722688	NM_017565.4(FAM20A):c.561C>T (p.Asp187=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1408291	NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln)	FAM20A (R38Q +1 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1G +1 more	GUncertain significance
Select item 2184856	NM_017565.4(FAM20A):c.526C>T (p.Arg176Trp)	FAM20A (R176W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 952876	NM_017565.4(FAM20A):c.526C>G (p.Arg176Gly)	FAM20A (R176G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 730383	NM_017565.4(FAM20A):c.513T>C (p.His171=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2636694	NM_017565.4(FAM20A):c.509G>A (p.Arg170His)	FAM20A (R170H +1 more)	Single nucleotide variant (missense variant +1 more)	FAM20A-related disorder	GUncertain significance
Select item 943631	NM_017565.4(FAM20A):c.509G>T (p.Arg170Leu)	FAM20A (R170L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 734473	NM_017565.4(FAM20A):c.507C>T (p.Asn169=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 791203	NM_017565.4(FAM20A):c.471C>T (p.Leu157=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1421740	NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln)	FAM20A (R156Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 716464	NM_017565.4(FAM20A):c.444C>T (p.Ser148=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta type 1G +1 more	GBenign
Select item 947205	NM_017565.4(FAM20A):c.440C>T (p.Thr147Ile)	FAM20A (T147I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2125001	NM_017565.4(FAM20A):c.435C>G (p.Asn145Lys)	FAM20A (N7K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2699619	NM_017565.4(FAM20A):c.426G>A (p.Glu142=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 30879	NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter)	FAM20A (R136*)	Single nucleotide variant (5 prime UTR variant +2 more)	Amelogenesis imperfecta type 1G +1 more	GPathogenic
Select item 1251248	NM_017565.4(FAM20A):c.405-144A>C	FAM20A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229652	NM_017565.4(FAM20A):c.405-259A>G	FAM20A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 157402	Single allele	FAM20A	Deletion	Large for gestational age	Gnot provided
Select item 1651492	NM_017565.4(FAM20A):c.404+18G>A	FAM20A	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1G +1 more	GLikely benign
Select item 732806	NM_017565.4(FAM20A):c.404+3G>A	FAM20A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1066256	NM_017565.4(FAM20A):c.404+2T>G	FAM20A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2595993	NM_017565.4(FAM20A):c.394C>T (p.Arg132Cys)	FAM20A (R132C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 392724	NM_017565.4(FAM20A):c.394C>G (p.Arg132Gly)	FAM20A (R132G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1322863	NM_017565.4(FAM20A):c.349_367del (p.Leu117fs)	FAM20A (L117fs)	Deletion (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G	GPathogenic
Select item 2278497	NM_017565.4(FAM20A):c.365C>T (p.Ala122Val)	FAM20A (A122V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1628513	NM_017565.4(FAM20A):c.357C>T (p.Ser119=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1909004	NM_017565.4(FAM20A):c.332_352dup (p.Leu117_Ala118insGlyAlaGluAspSerLeuLeu)	FAM20A	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2980264	NM_017565.4(FAM20A):c.345G>T (p.Ser115=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 734418	NM_017565.4(FAM20A):c.345G>C (p.Ser115=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 260831	NM_017565.4(FAM20A):c.345G>A (p.Ser115=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1532038	NM_017565.4(FAM20A):c.342C>T (p.Asp114=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2226849	NM_017565.4(FAM20A):c.340G>A (p.Asp114Asn)	FAM20A (D114N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2902788	NM_017565.4(FAM20A):c.339G>C (p.Glu113Asp)	FAM20A (E113D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2043950	NM_017565.4(FAM20A):c.329T>A (p.Leu110Gln)	FAM20A (L110Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1941052	NM_017565.4(FAM20A):c.324T>G (p.Pro108=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2193395	NM_017565.4(FAM20A):c.321G>T (p.Pro107=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 785576	NM_017565.4(FAM20A):c.321G>C (p.Pro107=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G +1 more	GLikely benign
Select item 2086865	NM_017565.4(FAM20A):c.279G>A (p.Gln93=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 748495	NM_017565.4(FAM20A):c.261G>A (p.Gly87=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2186268	NM_017565.4(FAM20A):c.248G>A (p.Gly83Asp)	FAM20A (G83D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1959329	NM_017565.4(FAM20A):c.231G>T (p.Arg77=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1398380	NM_017565.4(FAM20A):c.222C>A (p.Thr74=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2955663	NM_017565.4(FAM20A):c.201C>T (p.Ile67=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1699678	NM_017565.4(FAM20A):c.193G>A (p.Gly65Ser)	FAM20A (G65S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2294790	NM_017565.4(FAM20A):c.181G>A (p.Ala61Thr)	FAM20A (A61T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2984373	NM_017565.4(FAM20A):c.174C>A (p.Ala58=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3092248	NM_017565.4(FAM20A):c.170C>G (p.Ser57Trp)	FAM20A (S57W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2059439	NM_017565.4(FAM20A):c.162G>A (p.Ala54=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 720538	NM_017565.4(FAM20A):c.158T>A (p.Leu53Gln)	FAM20A (L53Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2887456	NM_017565.4(FAM20A):c.156C>T (p.Ser52=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1240402	NM_017565.4(FAM20A):c.111_145del (p.Glu39fs)	FAM20A (E39fs)	Deletion (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G	GPathogenic
Select item 2272418	NM_017565.4(FAM20A):c.134C>G (p.Pro45Arg)	FAM20A (P45R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1804412	NM_017565.4(FAM20A):c.134C>A (p.Pro45Gln)	FAM20A (P45Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3092246	NM_017565.4(FAM20A):c.133C>T (p.Pro45Ser)	FAM20A (P45S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1658920	NM_017565.4(FAM20A):c.129G>A (p.Gly43=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1192298	NM_017565.4(FAM20A):c.129del (p.Cys44fs)	FAM20A (C44fs)	Deletion (5 prime UTR variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2127374	NM_017565.4(FAM20A):c.127G>C (p.Gly43Arg)	FAM20A (G43R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2871687	NM_017565.4(FAM20A):c.126G>A (p.Arg42=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 941516	NM_017565.4(FAM20A):c.98G>T (p.Arg33Leu)	FAM20A (R33L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 748698	NM_017565.4(FAM20A):c.69C>T (p.Leu23=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2445461	NM_017565.4(FAM20A):c.53T>A (p.Leu18Gln)	FAM20A (L18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G	GUncertain significance
Select item 1449080	NM_017565.4(FAM20A):c.50C>T (p.Ala17Val)	FAM20A (A17V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1083658	NM_017565.4(FAM20A):c.45G>T (p.Leu15=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 715538	NM_017565.4(FAM20A):c.45G>A (p.Leu15=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1136451	NM_017565.4(FAM20A):c.43C>T (p.Leu15=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	FAM20A-related disorder +2 more	GLikely benign
Select item 260832	NM_017565.4(FAM20A):c.39G>A (p.Leu13=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 35475	NM_017565.4(FAM20A):c.34_35del (p.Leu12fs)	FAM20A (L12fs)	Microsatellite (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G	GPathogenic
Select item 780450	NM_017565.4(FAM20A):c.18G>A (p.Arg6=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G +1 more	GBenign/Likely benign
Select item 999606	NM_017565.4(FAM20A):c.13C>A (p.Arg5Ser)	FAM20A (R5S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 719205	NM_017565.4(FAM20A):c.8G>T (p.Gly3Val)	FAM20A (G3V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2133767	NM_017565.4(FAM20A):c.6G>A (p.Pro2=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 958296	NM_017565.4(FAM20A):c.5C>T (p.Pro2Leu)	FAM20A (P2L)	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G +1 more	GUncertain significance

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Items: 97