ClinVar for MedGen (Select 907878) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664033	NM_004423.4(DVL3):c.292del (p.Glu98fs)	DVL3 (E98fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 3	GLikely pathogenic
Select item 2441052	NM_004423.4(DVL3):c.1738C>T (p.Arg580Cys)	DVL3 (R580C)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 3	GUncertain significance
Select item 2441051	NM_004423.4(DVL3):c.1949_1950del (p.His650fs)	DVL3 (H650fs)	Microsatellite (frameshift variant)	Autosomal dominant Robinow syndrome 3	GUncertain significance
Select item 2095173	NM_004423.4(DVL3):c.950G>A (p.Arg317Gln)	DVL3 (R317Q)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 3 +1 more	GUncertain significance
Select item 1333918	NM_004423.4(DVL3):c.1473C>G (p.Tyr491Ter)	DVL3 (Y491*)	Single nucleotide variant (nonsense)	Autosomal dominant Robinow syndrome 3	GLikely pathogenic
Select item 981469	NM_004423.4(DVL3):c.1715-2del	DVL3	Deletion (splice acceptor variant)	Autosomal dominant Robinow syndrome 3	GLikely pathogenic
Select item 931200	NM_004423.4(DVL3):c.706A>G (p.Ser236Gly)	DVL3 (S236G)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 3	GUncertain significance
Select item 930245	NM_004423.4(DVL3):c.1120G>A (p.Ala374Thr)	DVL3 (A374T)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 3	GUncertain significance
Select item 817264	NM_004423.4(DVL3):c.1751_1754del (p.Asp584fs)	DVL3 (D584fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 800837	NM_004423.4(DVL3):c.1715-1G>C	DVL3	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 3	GLikely pathogenic
Select item 689755	NM_004423.4(DVL3):c.1592del (p.Pro531fs)	DVL3 (P531fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 3	GPathogenic
Select item 488050	NM_001466.4(FZD2):c.1301G>T (p.Gly434Val)	FZD2 (G434V)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 3	GLikely pathogenic
Select item 219222	NM_004423.4(DVL3):c.1749del (p.Ser583fs)	DVL3 (S583fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 219221	NM_004423.4(DVL3):c.1716del (p.Ser573fs)	DVL3 (S573fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 219220	NM_004423.4(DVL3):c.1715-1G>A	DVL3	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 219219	NM_004423.4(DVL3):c.1715-2A>G	DVL3	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 219218	NM_004423.4(DVL3):c.1585del (p.Ala529fs)	DVL3 (A529fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic