ClinVar for MedGen (Select 419162) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242586	NM_017565.4(FAM20A):c.188dup (p.Asp63fs)	FAM20A (D63fs)	Duplication (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G	GPathogenic
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 2445614	NM_017565.4(FAM20A):c.1301+5G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1G	GUncertain significance
Select item 2445596	NM_017565.4(FAM20A):c.928+2T>C	FAM20A, PRKAR1A	Single nucleotide variant (intron variant +1 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 2445463	NM_017565.4(FAM20A):c.1361+1G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant +1 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 2445462	NM_017565.4(FAM20A):c.976_978del (p.Glu326del)	FAM20A, PRKAR1A (E188del +1 more)	Deletion (inframe_deletion +2 more)	Amelogenesis imperfecta type 1G	GUncertain significance
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 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 2441337	NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)	FAM20A, PRKAR1A (F266L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1691825	NC_000017.11:g.68534268_68541798del	FAM20A, PRKAR1A	Deletion	Amelogenesis imperfecta type 1G	GPathogenic
Select item 1691824	NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys)	FAM20A, PRKAR1A (Y115C +1 more)	Single nucleotide variant	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 1691423	NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp)	FAM20A, PRKAR1A (R273W +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 1691422	NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC	FAM20A, PRKAR1A	Indel (intron variant)	Amelogenesis imperfecta type 1G	GPathogenic
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 1597393	NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile)	FAM20A, PRKAR1A (T353I +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +1 more	GLikely benign
Select item 1584524	NM_017565.4(FAM20A):c.928+16G>A	FAM20A, PRKAR1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1549902	NM_017565.4(FAM20A):c.984T>C (p.Ala328=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	Amelogenesis imperfecta type 1G +1 more	GLikely benign
Select item 1532038	NM_017565.4(FAM20A):c.342C>T (p.Asp114=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G +1 more	GLikely benign
Select item 1473653	NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn)	FAM20A, PRKAR1A (S252N +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +1 more	GUncertain significance
Select item 1421740	NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln)	FAM20A (R156Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1408291	NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln)	FAM20A (R38Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1373219	NM_017565.4(FAM20A):c.757T>C (p.Tyr253His)	FAM20A, PRKAR1A (Y253H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 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 1239725	NM_017565.4(FAM20A):c.640+11T>C	FAM20A	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1G +1 more	GBenign/Likely benign
Select item 1189033	NM_017565.4(FAM20A):c.[129del;734_735del]	FAM20A, PRKAR1A (E107fs +2 more)	Deletion (frameshift variant +3 more)	Amelogenesis imperfecta type 1G	GPathogenic
Select item 1136451	NM_017565.4(FAM20A):c.43C>T (p.Leu15=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1042445	NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro)	FAM20A, PRKAR1A (L365P +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +1 more	GUncertain significance
Select item 1029473	NM_017565.4(FAM20A):c.915_918del (p.Phe305fs)	FAM20A, PRKAR1A (F167fs +1 more)	Deletion (frameshift variant +2 more)	Amelogenesis imperfecta type 1G +1 more	GPathogenic
Select item 999606	NM_017565.4(FAM20A):c.13C>A (p.Arg5Ser)	FAM20A (R5S)	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta type 1G +2 more	GUncertain significance
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
Select item 949060	NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln)	FAM20A, PRKAR1A (R392Q +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +2 more	GConflicting classifications of pathogenicity
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 873033	NM_017565.4(FAM20A):c.1219+3_1219+6del	FAM20A, PRKAR1A	Microsatellite (intron variant +1 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 785576	NM_017565.4(FAM20A):c.321G>C (p.Pro107=)	FAM20A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
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 737692	NM_017565.4(FAM20A):c.1314C>T (p.His438=)	PRKAR1A, FAM20A	Single nucleotide variant (synonymous variant +2 more)	Amelogenesis imperfecta type 1G +1 more	GBenign/Likely benign
Select item 731711	NM_017565.4(FAM20A):c.792C>T (p.Ile264=)	FAM20A, PRKAR1A	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
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 716464	NM_017565.4(FAM20A):c.444C>T (p.Ser148=)	FAM20A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 587516	NM_017565.4(FAM20A):c.885del (p.Thr296fs)	FAM20A, PRKAR1A (T296fs +1 more)	Deletion (frameshift variant +2 more)	Amelogenesis imperfecta type 1G	GLikely pathogenic
Select item 426707	NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr)	FAM20A, PRKAR1A (A432T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 260833	NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys)	FAM20A, PRKAR1A (N332K +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +2 more	GBenign
Select item 260830	NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser)	FAM20A, PRKAR1A (L530S +1 more)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1G +2 more	GBenign
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 139649	NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter)	FAM20A, PRKAR1A (R478* +1 more)	Single nucleotide variant (nonsense +2 more)	Amelogenesis imperfecta type 1G	GPathogenic
Select item 139648	NM_017565.4(FAM20A):c.720-2A>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant +1 more)	Amelogenesis imperfecta type 1G	GPathogenic
Select item 35479	NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter)	FAM20A, PRKAR1A (R276* +1 more)	Single nucleotide variant (nonsense +2 more)	Amelogenesis imperfecta type 1G	GPathogenic
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 35477	NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs)	FAM20A, PRKAR1A (R392fs +1 more)	Deletion (frameshift variant +2 more)	Amelogenesis imperfecta type 1G	GPathogenic
Select item 35476	NM_017565.4(FAM20A):c.813-2A>G	FAM20A, PRKAR1A	Single nucleotide variant (intron variant +1 more)	Amelogenesis imperfecta type 1G	GPathogenic
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 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

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Items: 53