ClinVar for MedGen (Select 393913) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580347	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3	ACP6, BCL9 +8 more	Copy number gain	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2580307	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1	ACP6, BCL9 +8 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2580306	GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2580296	GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2574675	GRCh37/hg19 1q21.1(chr1:145382123-145792051)	ANKRD34A, ANKRD35 +14 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 1810322	GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	Gnot provided
Select item 1703632	GRCh37/hg19 1q21.1-21.2(chr1:146101790-147832190)	ACP6, BCL9 +7 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 1703631	GRCh37/hg19 1q21.1-21.2(chr1:146145424-147929323)	ACP6, BCL9 +7 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 1703630	GRCh37/hg19 1q21.1-21.2(chr1:146101790-147831000)	ACP6, BCL9 +7 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 931889	NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys)	GJA8 (E345K)	Single nucleotide variant (missense variant)	Chromosome 1q21.1 deletion syndrome	GUncertain significance
Select item 684447	Single allele	ACP6, BCL9 +10 more	Deletion	Chromosome 1q21.1 deletion syndrome	Gnot provided
Select item 666433	GRCh37/hg19 1q21.1-21.2(chr1:146521698-147721869)x1	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 625685	GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122)	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 625652	GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678)	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 374371	Single allele	ACP6, BCL9 +6 more	Deletion	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 292448	NM_181703.4(GJA5):c.995G>A (p.Arg332His)	GJA5 (R332H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 217323	NM_005267.5(GJA8):c.658A>G (p.Asn220Asp)	GJA8 (N220D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign