ClinVar for MedGen (Select 869773) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802156	NM_025216.3(WNT10A):c.[487C>T];[682T>A]			Odonto-onycho-dermal dysplasia	GPathogenic
Select item 1285613	NM_000635.4(RFX2):c.1421T>C (p.Ile474Thr)	RANBP3-DT, RFX2 (I449T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929423	NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile)	EDARADD (N128I +2 more)	Single nucleotide variant (missense variant)	Tooth agenesis	GLikely pathogenic
Select item 812590	NM_001367607.2(ANKRD30B):c.1938del (p.Asp646fs)	ANKRD30B (D646fs)	Deletion (frameshift variant +1 more)	Tooth agenesis	GUncertain significance
Select item 805793	NM_016516.3(VPS54):c.501G>C (p.Met167Ile)	VPS54 (M155I +1 more)	Single nucleotide variant (missense variant)	Tooth agenesis	GUncertain significance
Select item 805792	NM_014911.5(AAK1):c.2591C>A (p.Ser864Tyr)	AAK1 (S864Y)	Single nucleotide variant (missense variant +1 more)	Tooth agenesis	GUncertain significance
Select item 805791	NM_001013437.2(SEH1L):c.550G>A (p.Val184Ile)	SEH1L (V184I)	Single nucleotide variant (missense variant)	Tooth agenesis	GUncertain significance
Select item 635872	Single allele	PAX9, SLC25A21	Deletion	Kidney disorder +1 more	GUncertain significance
Select item 562181	NM_001202.6(BMP4):c.614T>C (p.Val205Ala)	BMP4 (V205A +2 more)	Single nucleotide variant (missense variant)	Low bone mineral density +1 more	GUncertain significance
Select item 562180	NM_001202.6(BMP4):c.58G>A (p.Gly20Ser)	BMP4 (G20S +1 more)	Single nucleotide variant (missense variant +1 more)	Tooth agenesis	GUncertain significance
Select item 334414	NM_025216.3(WNT10A):c.1087A>C (p.Asn363His)	WNT10A (N363H)	Single nucleotide variant (missense variant)	Odonto-onycho-dermal dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 334399	NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg)	WNT10A (G165R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 225160	NM_002336.3(LRP6):c.4298C>T (p.Ser1433Leu)	LRP6 (S1433L)	Single nucleotide variant (missense variant)	Orofacial cleft +1 more	GUncertain significance
Select item 225159	NM_002336.3(LRP6):c.4136G>A (p.Gly1379Asp)	LRP6 (G1379D)	Single nucleotide variant (missense variant)	Orofacial cleft +1 more	GUncertain significance
Select item 225153	NM_002336.3(LRP6):c.4082-2A>G	LRP6	Single nucleotide variant (splice acceptor variant)	Tooth agenesis	GLikely pathogenic
Select item 225152	NM_002336.3(LRP6):c.2994+1G>A	LRP6	Single nucleotide variant (splice donor variant)	Tooth agenesis	GLikely pathogenic
Select item 225151	NM_002336.3(LRP6):c.1609G>A (p.Gly537Arg)	LRP6 (G537R)	Single nucleotide variant (missense variant)	Tooth agenesis	GLikely pathogenic
Select item 225150	NM_002336.3(LRP6):c.1406C>T (p.Pro469Leu)	LRP6 (P469L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 225149	NM_002336.3(LRP6):c.517C>G (p.Arg173Gly)	LRP6 (R173G)	Single nucleotide variant (missense variant)	Tooth agenesis	GLikely pathogenic
Select item 225148	NM_002336.3(LRP6):c.3398-2A>C	LRP6	Single nucleotide variant (splice acceptor variant)	Tooth agenesis	GPathogenic
Select item 225147	NM_002336.3(LRP6):c.4593del (p.Cys1532fs)	LRP6 (C1532fs)	Deletion (frameshift variant)	Orofacial cleft +1 more	GPathogenic
Select item 139576	NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser)	WNT10A (G213S)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 2 +4 more	GConflicting classifications of pathogenicity
Select item 4462	NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	WNT10A (F228I)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +7 more	GConflicting classifications of pathogenicity

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Items: 23