ClinVar (all) for Orgtrack (Select 509012) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499991	NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)	LAMB3 (G1102fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A	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 2445595	NM_033068.3(ACP4):c.626T>C (p.Leu209Pro)	ACP4 (L209P)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GUncertain significance
Select item 2445594	NM_004917.5(KLK4):c.443G>T (p.Cys148Phe)	KLK4 (C148F +1 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 2A1	GUncertain significance
Select item 2445464	NM_001029998.6(SLC10A7):c.269T>G (p.Leu90Arg)	SLC10A7 (L90R)	Single nucleotide variant (missense variant +2 more)	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	GUncertain significance
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 (non-coding transcript variant +1 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 2445459	NM_001130144.3(LTBP3):c.3629-2A>G	LTBP3	Single nucleotide variant (splice acceptor variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely pathogenic
Select item 2445453	NM_001130144.3(LTBP3):c.3087del (p.Asn1030fs)	LOC121832793, LTBP3 (N1030fs +1 more)	Deletion (frameshift variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely pathogenic
Select item 2445451	NM_182758.4(WDR72):c.1283T>G (p.Ile428Ser)	WDR72 (I428S)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 2445450	NM_198488.5(FAM83H):c.1498C>G (p.Leu500Val)	FAM83H (L500V)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, hypocalcification type	GUncertain significance
Select item 2445449	NM_182758.4(WDR72):c.2388del (p.Lys796fs)	WDR72 (K796fs)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445448	NM_182758.4(WDR72):c.2146del (p.Ala716fs)	WDR72 (A716fs)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445445	NM_182758.4(WDR72):c.954+1_954+10del	WDR72	Deletion (splice donor variant)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445444	NM_182758.4(WDR72):c.118C>T (p.Gln40Ter)	WDR72 (Q40*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
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 2445431	NM_033068.3(ACP4):c.736G>A (p.Val246Met)	ACP4 (V246M)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GLikely pathogenic
Select item 2445430	NM_033068.3(ACP4):c.645+1G>A	ACP4	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta, type 1J	GLikely pathogenic
Select item 2445429	NM_033068.3(ACP4):c.1199C>A (p.Ala400Asp)	ACP4, LOC130065006 (A400D)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta, type 1J	GUncertain significance
Select item 2445428	NM_005220.3(DLX3):c.537C>A (p.Asn179Lys)	DLX3 (N179K)	Single nucleotide variant (missense variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GLikely pathogenic
Select item 2445427	NM_182758.4:c.-13+989_7del	WDR72	Deletion	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445426	NM_005220.3(DLX3):c.92C>G (p.Thr31Ser)	DLX3 (T31S)	Single nucleotide variant (missense variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 2445425	NM_198488.5(FAM83H):c.1375C>T (p.Gln459Ter)	FAM83H (Q459*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, hypocalcification type	GPathogenic
Select item 2445424	NM_198488.5(FAM83H):c.1309_1311delinsTAG (p.His437Ter)	FAM83H (H437*)	Indel (nonsense)	Amelogenesis imperfecta, hypocalcification type	GPathogenic
Select item 2445422	NM_198488.5(FAM83H):c.930_939dup (p.Val314fs)	FAM83H (V314fs)	Duplication (frameshift variant)	Amelogenesis imperfecta, hypocalcification type	GPathogenic
Select item 2445420	NM_153646.4(SLC24A4):c.1716+5G>A	SLC24A4	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A5	GUncertain significance
Select item 2445418	NM_016519.6(AMBN):c.577G>T (p.Gly193Ter)	AMBN (G193*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1F	GUncertain significance
Select item 2445235	NM_016519.6(AMBN):c.15+1G>A	AMBN	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1F	GUncertain significance
Select item 2445234	NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)	AMELX, ARHGAP6 (A16D)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1E	GLikely pathogenic
Select item 2445233	NM_031889.3(ENAM):c.664C>T (p.Gln222Ter)	ENAM (Q222* +1 more)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	GPathogenic
Select item 2445232	NM_031889.3(ENAM):c.101T>C (p.Leu34Pro)	ENAM (L34P)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	GUncertain significance
Select item 2445230	NM_000228.3(LAMB3):c.2926del (p.Val976fs)	LAMB3 (V976fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 2445229	NM_000228.3(LAMB3):c.944-14C>G	LAMB3	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1A	GUncertain significance
Select item 2444856	NM_016519.6(AMBN):c.571-1G>C	AMBN	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2444855	NM_000094.4(COL7A1):c.2440+3A>C	COL7A1	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1	GUncertain significance
Select item 2444517	NM_000228.3(LAMB3):c.3490C>T (p.Arg1164Cys)	LAMB3 (R1164C)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A	GUncertain significance
Select item 2082798	NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)	COL7A1 (M1262T)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1702585	NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)	AMBN (S70*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1F +1 more	GUncertain significance
Select item 713936	NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His)	COL7A1 (R1202H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 427132	NM_031889.3(ENAM):c.588+1dup	ENAM	Duplication (splice donor variant)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local +1 more	GPathogenic/Likely pathogenic
Select item 290568	NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)	LAMC2 (R165C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 289857	NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)	DLX3 (Y237C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 48