ClinVar for MedGen (Select 1639644) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24321981.	NM_006496.4(GNAI3):c.145A>G (p.Ile49Val) GRCh37: Chr1:110116385 GRCh38: Chr1:109573763	GNAI3	I49V	Auriculocondylar syndrome 1	Uncertain significance (Mar 8, 2021)	criteria provided, single submitter
Select item 9892872.	NM_006496.4(GNAI3):c.303+1G>A GRCh37: Chr1:110116660 GRCh38: Chr1:109574038	GNAI3		Auriculocondylar syndrome 1	Uncertain significance (May 28, 2020)	criteria provided, single submitter
Select item 5484973.	NM_006496.4(GNAI3):c.146T>C (p.Ile49Thr) GRCh37: Chr1:110116386 GRCh38: Chr1:109573764	GNAI3	I49T	Auriculocondylar syndrome 1	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2091284.	NM_001377142.1(PLCB4):c.986A>C (p.Asn329Thr) GRCh37: Chr20:9364980 GRCh38: Chr20:9384333	PLCB4	N329T	Auriculocondylar syndrome 1	Pathogenic (Sep 17, 2012)	criteria provided, single submitter
Select item 646915.	NM_006496.4(GNAI3):c.141C>A (p.Ser47Arg) GRCh37: Chr1:110116381 GRCh38: Chr1:109573759	GNAI3	S47R	Auriculocondylar syndrome 1	Pathogenic (Mar 1, 2013)	no assertion criteria provided
Select item 316416.	NM_001377142.1(PLCB4):c.1984A>C (p.Asn662His) GRCh37: Chr20:9389813 GRCh38: Chr20:9409166	PLCB4	N650H, N662H	Auriculocondylar syndrome 1	Pathogenic (Sep 17, 2012)	criteria provided, single submitter
Select item 316407.	NM_001377142.1(PLCB4):c.1897C>T (p.Arg633Cys) GRCh37: Chr20:9389726 GRCh38: Chr20:9409079	PLCB4	R621C, R633C	Auriculocondylar syndrome 1	Pathogenic (Sep 17, 2012)	criteria provided, single submitter
Select item 316398.	NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His) GRCh37: Chr20:9389727 GRCh38: Chr20:9409080	PLCB4	R621H, R633H	Inborn genetic diseases, Auriculocondylar syndrome, not provided, Auriculocondylar syndrome 1, Auriculocondylar syndrome 2	Pathogenic (Aug 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 316379.	NM_001377142.1(PLCB4):c.1904A>G (p.Tyr635Cys) GRCh37: Chr20:9389733 GRCh38: Chr20:9409086	PLCB4	Y623C, Y635C	Auriculocondylar syndrome 1	Pathogenic (Sep 17, 2012)	criteria provided, single submitter
Select item 3163610.	NM_006496.4(GNAI3):c.118G>C (p.Gly40Arg) GRCh37: Chr1:110091460 GRCh38: Chr1:109548838	GNAI3, LOC129931108	G40R	Auriculocondylar syndrome 1	Pathogenic (Sep 17, 2012)	criteria provided, single submitter