"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar - NCBI

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Items: 15

	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