ClinVar for MedGen (Select 393913) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25746751.	GRCh37/hg19 1q21.1(chr1:145382123-145792051) GRCh37: Chr1:145382123-145792051	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP		Chromosome 1q21.1 deletion syndrome	Pathogenic	no assertion criteria provided
Select item 18103222.	GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1 GRCh37: Chr1:146542843-147857135	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2		Chromosome 1q21.1 deletion syndrome	not provided	no assertion provided
Select item 17036323.	GRCh37/hg19 1q21.1-21.2(chr1:146101790-147832190) GRCh37: Chr1:146101790-147832190	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2		Chromosome 1q21.1 deletion syndrome	Pathogenic	no assertion criteria provided
Select item 17036314.	GRCh37/hg19 1q21.1-21.2(chr1:146145424-147929323) GRCh37: Chr1:146145424-147929323	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2		Chromosome 1q21.1 deletion syndrome	Pathogenic	no assertion criteria provided
Select item 17036305.	GRCh37/hg19 1q21.1-21.2(chr1:146101790-147831000) GRCh37: Chr1:146101790-147831000	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2		Chromosome 1q21.1 deletion syndrome	Pathogenic	no assertion criteria provided
Select item 9318896.	NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys) GRCh37: Chr1:147381115 GRCh38: Chr1:147908988	GJA8	E345K	Chromosome 1q21.1 deletion syndrome	Uncertain significance (Apr 18, 2019)	criteria provided, single submitter
Select item 6844477.	Single allele GRCh37: Chr1:145723417-147897962	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PDZK1, PRKAB2		Chromosome 1q21.1 deletion syndrome	not provided	no assertion provided
Select item 6664338.	GRCh37/hg19 1q21.1-21.2(chr1:146521698-147721869)x1 GRCh37: Chr1:146521698-147721869	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2		Chromosome 1q21.1 deletion syndrome	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 6256859.	GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122) GRCh37: Chr1:146560564-147416122	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2		Chromosome 1q21.1 deletion syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62565210.	GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678) GRCh37: Chr1:146618988-147825678	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2		Chromosome 1q21.1 deletion syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 37437111.	Single allele GRCh37: Chr1:146560564-147416122	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2		Chromosome 1q21.1 deletion syndrome	Pathogenic	no assertion criteria provided
Select item 29244812.	NM_181703.4(GJA5):c.995G>A (p.Arg332His) GRCh37: Chr1:147230352 GRCh38: Chr1:147758244	GJA5	R332H	Chromosome 1q21.1 deletion syndrome, Atrial standstill 1, Atrial fibrillation, familial, 11, Inborn genetic diseases, Atrial standstill 1, Atrial fibrillation, familial, 11, Atrial fibrillation, familial, 11	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 21732313.	NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) GRCh37: Chr1:147380740 GRCh38: Chr1:147908613	GJA8	N220D	Cataract 1 multiple types, Chromosome 1q21.1 deletion syndrome, not provided, Zonular Pulverulent Cataract, Cataract 1 multiple types	Likely benign (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts