C4225363[trait identifier] AND "Lupski Lab, Baylor-Hopkins CMG, Baylor - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 504195	NM_001330311.2(DVL1):c.1731del (p.Ser578fs)	DVL1 (S578fs +1 more)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 981468	NM_001330311.2(DVL1):c.1715-1G>A	DVL1	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488048	NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs)	LOC129929114, DVL1 (S562fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488046	NM_001330311.2(DVL1):c.1698del (p.Ser567fs)	DVL1, LOC129929114 (S542fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488045	NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs)	DVL1, LOC129929114 (S564fs +1 more)	Duplication (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 208047	NM_001330311.2(DVL1):c.1690del (p.Ser564fs)	DVL1, LOC129929114 (S539fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 981467	NM_001330311.2(DVL1):c.1667del (p.Pro556fs)	DVL1 (P531fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 208043	NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs)	DVL1 (F524fs +1 more)	Indel (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 984981	NM_001330311.2(DVL1):c.1631del (p.Gly544fs)	DVL1 (G519fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 208048	NM_001330311.2(DVL1):c.1604del (p.Gly535fs)	DVL1 (G535fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 219223	NM_001330311.2(DVL1):c.1598del (p.Pro533fs)	DVL1 (P508fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 208045	NM_001330311.2(DVL1):c.1594del (p.Trp532fs)	DVL1 (W507fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2 +1 more	GPathogenic
Select item 208044	NM_001330311.2(DVL1):c.1580_1592del (p.His527fs)	DVL1 (H502fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 488047	NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs)	DVL1 (P499fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic/Likely pathogenic
Select item 208046	NM_001330311.2(DVL1):c.1583del (p.Pro528fs)	DVL1 (P503fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 219218	NM_004423.4(DVL3):c.1585del (p.Ala529fs)	DVL3 (A529fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 488049	NM_004423.4(DVL3):c.1617del (p.Gln539fs)	DVL3 (Q539fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely 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 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 219221	NM_004423.4(DVL3):c.1716del (p.Ser573fs)	DVL3 (S573fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 219222	NM_004423.4(DVL3):c.1749del (p.Ser583fs)	DVL3 (S583fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 488051	NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter)	FZD2 (W377*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 488061	NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser)	FZD2 (G434S)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488052	NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val)	FZD2 (G434V)	Indel (missense variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 617609	NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)	FZD2 (W548*)	Single nucleotide variant	not provided +2 more	GPathogenic

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Items: 25