ClinVar for MedGen (Select 1676229) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25853121.	NM_018669.6(WDR4):c.1A>G (p.Met1Val) GRCh37: Chr21:44299605 GRCh38: Chr21:42879495	WDR4	M1V	Microcephaly, growth deficiency, seizures, and brain malformations	Likely pathogenic	criteria provided, single submitter
Select item 18055192.	NM_018669.6(WDR4):c.38C>T (p.Thr13Met) GRCh37: Chr21:44299568 GRCh38: Chr21:42879458	WDR4	T13M	Microcephaly, growth deficiency, seizures, and brain malformations, Inborn genetic diseases	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12387623.	NM_018669.6(WDR4):c.213G>C (p.Lys71Asn) GRCh37: Chr21:44293744 GRCh38: Chr21:42873634	WDR4	K71N	Microcephaly, growth deficiency, seizures, and brain malformations, Galloway-Mowat syndrome 6, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12349754.	NM_018669.6(WDR4):c.1169G>A (p.Arg390Gln) GRCh37: Chr21:44270229 GRCh38: Chr21:42850119	WDR4	R244Q, R389Q, R390Q	Galloway-Mowat syndrome 6, Microcephaly, growth deficiency, seizures, and brain malformations, not provided	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12290455.	NM_018669.6(WDR4):c.1045+38C>T GRCh37: Chr21:44272327 GRCh38: Chr21:42852217	WDR4		Galloway-Mowat syndrome 6, Microcephaly, growth deficiency, seizures, and brain malformations, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12273346.	NM_018669.6(WDR4):c.567-16T>C GRCh37: Chr21:44279848 GRCh38: Chr21:42859738	WDR4		not provided, Microcephaly, growth deficiency, seizures, and brain malformations, Galloway-Mowat syndrome 6	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12214077.	NM_018669.6(WDR4):c.796C>T (p.Pro266Ser) GRCh37: Chr21:44273858 GRCh38: Chr21:42853748	WDR4	P120S, P265S, P266S	Microcephaly, growth deficiency, seizures, and brain malformations, Galloway-Mowat syndrome 6, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10986848.	NM_018669.6(WDR4):c.73A>G (p.Thr25Ala) GRCh37: Chr21:44299533 GRCh38: Chr21:42879423	WDR4	T25A	not provided, Microcephaly, growth deficiency, seizures, and brain malformations	Uncertain significance (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10286089.	NM_018669.6(WDR4):c.652T>C (p.Tyr218His) GRCh37: Chr21:44275866 GRCh38: Chr21:42855756	WDR4	Y72H, Y218H	Microcephaly, growth deficiency, seizures, and brain malformations	Uncertain significance (Jan 16, 2020)	criteria provided, single submitter
Select item 77361510.	NM_018669.6(WDR4):c.33G>A (p.Gly11=) GRCh37: Chr21:44299573 GRCh38: Chr21:42879463	WDR4		not provided, Microcephaly, growth deficiency, seizures, and brain malformations, Galloway-Mowat syndrome 6	Benign/Likely benign (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 61960011.	NM_018669.6(WDR4):c.509G>T (p.Arg170Leu) GRCh37: Chr21:44282449 GRCh38: Chr21:42862339	WDR4	R170L, R24L	Microcephaly, growth deficiency, seizures, and brain malformations	Pathogenic (Jun 3, 2020)	criteria provided, single submitter