ClinVar for MedGen (Select 393913) - ClinVar - NCBI

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Items: 17

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25803471.	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3 GRCh37: Chr1:145883619-147817082	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF11, NBPF12, PRKAB2		Chromosome 1q21.1 deletion syndrome	Pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 25803072.	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1 GRCh37: Chr1:145883619-147594599	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF11, NBPF12, PRKAB2		Chromosome 1q21.1 deletion syndrome	Pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 25803063.	GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3 GRCh37: Chr1:145365275-145826979	ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP		Chromosome 1q21.1 deletion syndrome	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 25802964.	GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1 GRCh37: Chr1:146474687-147415708	ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2		Chromosome 1q21.1 deletion syndrome	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 25746755.	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 18103226.	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 17036327.	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 17036318.	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 17036309.	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 93188910.	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 68444711.	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 66643312.	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 62568513.	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 62565214.	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 37437115.	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 29244816.	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 21732317.	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