ClinVar for MedGen (Select 436540) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445443	NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)	MMP20 (Q376*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta hypomaturation type 2A2	GLikely pathogenic
Select item 2445442	NM_004771.4(MMP20):c.530G>A (p.Gly177Glu)	MMP20 (G177E)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 2445441	NM_004771.4(MMP20):c.359dup (p.Asn120fs)	MMP20 (N120fs)	Duplication (frameshift variant)	Amelogenesis imperfecta hypomaturation type 2A2	GLikely pathogenic
Select item 2445440	NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)	MMP20 (Y454*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta hypomaturation type 2A2	GLikely pathogenic
Select item 2444100	NM_004771.4(MMP20):c.690T>G (p.His230Gln)	MMP20, MMP20-AS1 (H230Q)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 1192505	NM_004771.4(MMP20):c.[1046C>T;911C>G]	MMP20 (A349V +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 917993	NM_004771.4(MMP20):c.809_811+12delinsCCAG	MMP20, MMP20-AS1	Indel (splice donor variant)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 917992	NM_004771.4(MMP20):c.1122A>C (p.Gln374His)	MMP20 (Q374H)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 917991	NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr)	MMP20-AS1, MMP20 (S237Y)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 917990	NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)	MMP20 (E209Q)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GLikely pathogenic
Select item 880372	NM_004771.4(MMP20):c.453C>T (p.Ser151=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880371	NM_004771.4(MMP20):c.641G>C (p.Gly214Ala)	MMP20 (G214A)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880370	NM_004771.4(MMP20):c.644C>T (p.Thr215Met)	MMP20 (T215M)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880369	NM_004771.4(MMP20):c.667G>A (p.Val223Ile)	MMP20 (V223I)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880332	NM_004771.4(MMP20):c.*227A>C	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2 +1 more	GBenign
Select item 880331	NM_004771.4(MMP20):c.*268T>C	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880330	NM_004771.4(MMP20):c.*299G>A	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880329	NM_004771.4(MMP20):c.*412G>A	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880328	NM_004771.4(MMP20):c.*427A>T	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880327	NM_004771.4(MMP20):c.*481A>G	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 879171	NM_004771.4(MMP20):c.711C>T (p.Ser237=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 879170	NM_004771.4(MMP20):c.855C>A (p.Ala285=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 878619	NM_004771.4(MMP20):c.66A>G (p.Ala22=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 878618	NM_004771.4(MMP20):c.67G>A (p.Ala23Thr)	MMP20 (A23T)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2 +1 more	GUncertain significance
Select item 878617	NM_004771.4(MMP20):c.103A>C (p.Arg35=)	MMP20	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 878577	NM_004771.4(MMP20):c.1053C>T (p.Tyr351=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 878576	NM_004771.4(MMP20):c.1108A>G (p.Thr370Ala)	MMP20 (T370A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 878575	NM_004771.4(MMP20):c.1287A>G (p.Pro429=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 877605	NM_004771.4(MMP20):c.127-14C>A	MMP20	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 877604	NM_004771.4(MMP20):c.183T>C (p.Val61=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 877603	NM_004771.4(MMP20):c.372C>T (p.Tyr124=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 877602	NM_004771.4(MMP20):c.375-10G>A	MMP20	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 877554	NM_004771.4(MMP20):c.1296T>C (p.Thr432=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 877553	NM_004771.4(MMP20):c.1366T>C (p.Phe456Leu)	MMP20 (F456L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 877552	NM_004771.4(MMP20):c.1418G>A (p.Ser473Asn)	MMP20 (S473N)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 877551	NM_004771.4(MMP20):c.1424T>C (p.Val475Ala)	MMP20 (V475A)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 781031	NM_004771.4(MMP20):c.870A>T (p.Pro290=)	MMP20	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 770979	NM_004771.4(MMP20):c.1313G>C (p.Gly438Ala)	MMP20 (G438A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631643	NM_004771.4(MMP20):c.389C>T (p.Thr130Ile)	MMP20 (T130I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301957	NM_004771.4(MMP20):c.92C>T (p.Pro31Leu)	MMP20 (P31L)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2 +1 more	GConflicting classifications of pathogenicity
Select item 301956	NM_004771.4(MMP20):c.254G>A (p.Gly85Glu)	MMP20 (G85E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 301955	NM_004771.4(MMP20):c.274A>G (p.Met92Val)	MMP20 (M92V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301954	NM_004771.4(MMP20):c.289A>T (p.Lys97Ter)	MMP20 (K97*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301953	NM_004771.4(MMP20):c.375-11C>T	MMP20	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301952	NM_004771.4(MMP20):c.383A>C (p.Lys128Thr)	MMP20 (K128T)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2 +1 more	GUncertain significance
Select item 301951	NM_004771.4(MMP20):c.415G>A (p.Asp139Asn)	MMP20 (D139N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 301950	NM_004771.4(MMP20):c.454G>A (p.Ala152Thr)	MMP20 (A152T)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301949	NM_004771.4(MMP20):c.505A>C (p.Ile169Leu)	MMP20 (I169L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 301948	NM_004771.4(MMP20):c.666C>T (p.Thr222=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301947	NM_004771.4(MMP20):c.723A>G (p.Ser241=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301946	NM_004771.4(MMP20):c.757C>T (p.Pro253Ser)	MMP20 (P253S)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2 +1 more	GUncertain significance
Select item 301945	NM_004771.4(MMP20):c.808T>C (p.Tyr270His)	MMP20 (Y270H)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301944	NM_004771.4(MMP20):c.810C>T (p.Tyr270=)	MMP20	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 301943	NM_004771.4(MMP20):c.883C>G (p.Leu295Val)	MMP20 (L295V)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2 +2 more	GUncertain significance
Select item 301942	NM_004771.4(MMP20):c.910G>A (p.Ala304Thr)	MMP20 (A304T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 301937	NM_004771.4(MMP20):c.1136C>T (p.Pro379Leu)	MMP20 (P379L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301936	NM_004771.4(MMP20):c.1219C>T (p.Leu407Phe)	MMP20 (L407F)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301935	NM_004771.4(MMP20):c.1247+8T>C	MMP20	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301934	NM_004771.4(MMP20):c.1422G>A (p.Val474=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301933	NM_004771.4(MMP20):c.1430C>G (p.Ser477Cys)	MMP20 (S477C)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301932	NM_004771.4(MMP20):c.*110A>T	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301930	NM_004771.4(MMP20):c.*484T>C	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 259542	NM_004771.4(MMP20):c.842C>A (p.Thr281Asn)	MMP20 (T281N)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2 +2 more	GBenign
Select item 259541	NM_004771.4(MMP20):c.824T>C (p.Val275Ala)	MMP20 (V275A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 259539	NM_004771.4(MMP20):c.53A>C (p.Lys18Thr)	MMP20 (K18T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 189295	NM_004771.4(MMP20):c.611A>G (p.His204Arg)	MMP20, MMP20-AS1 (H204R)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 139625	NM_004771.4(MMP20):c.102G>A (p.Trp34Ter)	MMP20, MMP20-AS1 (W34*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 139624	NM_004771.4(MMP20):c.678T>A (p.His226Gln)	MMP20, MMP20-AS1 (H226Q)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 5428	NM_004771.4(MMP20):c.954-2A>T	MMP20	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic

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Items: 69