"GeneDx"[submitter] AND "JAM2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 1273985	NC_000021.9:g.25639146T>A	JAM2	Single nucleotide variant	not provided	GBenign
Select item 1258951	NM_021219.4(JAM2):c.-46C>A	JAM2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1276642	NM_021219.4(JAM2):c.21C>A (p.His7Gln)	JAM2 (H7Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1278533	NM_021219.4(JAM2):c.68-96C>A	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259131	NM_021219.4(JAM2):c.123A>G (p.Val41=)	JAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1231060	NM_021219.4(JAM2):c.242-208T>C	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227361	NM_021219.4(JAM2):c.242-149A>G	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777613	NM_021219.4(JAM2):c.411A>G (p.Pro137=)	JAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 829541	NM_021219.4(JAM2):c.685C>T (p.Arg229Ter)	JAM2 (R229* +1 more)	Single nucleotide variant (nonsense +1 more)	JAM2-related disorder +1 more	GPathogenic
Select item 1270583	NM_021219.4(JAM2):c.697+127C>T	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238278	NM_021219.4(JAM2):c.698-21G>A	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273072	NM_021219.4(JAM2):c.805+30T>A	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226309	NM_021219.4(JAM2):c.805+90TTTG[3]	JAM2	Microsatellite (intron variant)	not provided	GBenign
Select item 1273504	NM_021219.4(JAM2):c.805+235G>A	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222075	NM_021219.4(JAM2):c.806-224_806-223insG	JAM2	Insertion (intron variant)	not provided	GBenign
Select item 1242608	NM_021219.4(JAM2):c.806-21T>G	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230202	NM_021219.4(JAM2):c.821+181A>G	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258620	NM_021219.4(JAM2):c.856A>C (p.Ser286Arg)	JAM2 (S250R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1269779	NM_021219.4(JAM2):c.865-102C>T	JAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1289948	NM_021219.4(JAM2):c.865-36C>A	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258573	NM_021219.4(JAM2):c.865-11del	JAM2	Deletion (intron variant)	not provided	GBenign
Select item 1294897	NM_021219.4(JAM2):c.*60T>C	JAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1252935	NM_021219.4(JAM2):c.*181C>T	JAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27