Related gene-specific medical variations for Gene (Select 9313) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2387466	NM_004771.4(MMP20):c.952C>T (p.Arg318Trp)	MMP20-AS1, MMP20 (R318W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382558	NM_004771.4(MMP20):c.434C>A (p.Ala145Asp)	MMP20-AS1, MMP20 (A145D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376146	NM_004771.4(MMP20):c.202A>G (p.Met68Val)	MMP20, MMP20-AS1 (M68V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342737	NM_004771.4(MMP20):c.818G>A (p.Arg273Gln)	MMP20-AS1, MMP20 (R273Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316295	NM_004771.4(MMP20):c.587G>A (p.Gly196Glu)	MMP20-AS1, MMP20 (G196E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280504	NM_004771.4(MMP20):c.128C>T (p.Ala43Val)	MMP20, MMP20-AS1 (A43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258082	NM_004771.4(MMP20):c.127G>C (p.Ala43Pro)	MMP20-AS1, MMP20 (A43P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251366	NM_004771.4(MMP20):c.97A>C (p.Thr33Pro)	MMP20-AS1, MMP20 (T33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801415	NM_004771.4(MMP20):c.953+5103_953+5414del	MMP20	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1192519	NM_004771.4(MMP20):c.911C>G (p.Ala304Gly)	MMP20 (A304G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1192518	NM_004771.4(MMP20):c.1046C>T (p.Ala349Val)	MMP20 (A349V)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 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 756812	NM_004771.4(MMP20):c.768C>T (p.Phe256=)	MMP20, MMP20-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259540	NM_004771.4(MMP20):c.649+8T>C	MMP20	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 162146	NM_004771.4(MMP20):c.954-4768T>C	MMP20	Single nucleotide variant (intron variant)	not provided	Gnot provided
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

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Items: 20