"GeneDx"[submitter] AND "JAM3"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 1249709	NC_000011.10:g.134068835C>G	JAM3	Single nucleotide variant	not provided	GBenign
Select item 1186860	NM_032801.5(JAM3):c.-8C>T	JAM3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1217180	NM_032801.5(JAM3):c.76+201C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231657	NM_032801.5(JAM3):c.76+253C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201266	NM_032801.5(JAM3):c.77-45G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288505	NM_032801.5(JAM3):c.142+49T>C	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302860	NM_032801.5(JAM3):c.142+91del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1252645	NM_032801.5(JAM3):c.142+136G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212267	NM_032801.5(JAM3):c.142+181G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242740	NM_032801.5(JAM3):c.142+231C>A	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223096	NM_032801.5(JAM3):c.143-256C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261299	NM_032801.5(JAM3):c.143-184G>T	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191926	NM_032801.5(JAM3):c.143-113G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182773	NM_032801.5(JAM3):c.143-64G>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261866	NM_032801.5(JAM3):c.256+57A>G	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266191	NM_032801.5(JAM3):c.256+128del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1278995	NM_032801.5(JAM3):c.256+125_256+129del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1272801	NM_032801.5(JAM3):c.256+173T>C	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280479	NM_032801.5(JAM3):c.257-153_257-152del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1190686	NM_032801.5(JAM3):c.257-103G>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174323	NM_032801.5(JAM3):c.409+112G>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216822	NM_032801.5(JAM3):c.410-111G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164993	NM_032801.5(JAM3):c.410-14_410-13insCTT	JAM3	Insertion (intron variant)	Porencephaly-microcephaly-bilateral congenital cataract syndrome +1 more	GBenign
Select item 518239	NM_032801.5(JAM3):c.410-14_410-13insCT	JAM3	Insertion (intron variant)	not provided +1 more	GBenign
Select item 781054	NM_032801.5(JAM3):c.449T>C (p.Val150Ala)	JAM3 (V150A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1243689	NM_032801.5(JAM3):c.612+159_612+162del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1231633	NM_032801.5(JAM3):c.612+265G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200479	NM_032801.5(JAM3):c.613-102C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209435	NM_032801.5(JAM3):c.613-97G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 709889	NM_032801.5(JAM3):c.613G>A (p.Val205Met)	JAM3 (V205M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1288991	NM_032801.5(JAM3):c.712+71T>C	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518240	NM_032801.5(JAM3):c.843-3T>C	JAM3	Single nucleotide variant (intron variant)	Porencephaly-microcephaly-bilateral congenital cataract syndrome +1 more	GBenign
Select item 1233777	NM_032801.5(JAM3):c.897+32G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707339	NM_032801.5(JAM3):c.897+137_897+138del	JAM3	Deletion (intron variant)	not provided	GLikely benign
Select item 1269847	NM_032801.5(JAM3):c.897+137_897+138insCAC	JAM3	Insertion (intron variant)	not provided	GBenign
Select item 1257789	NM_032801.5(JAM3):c.897+138AC[22]	JAM3	Microsatellite (intron variant)	not provided	GBenign
Select item 1246032	NM_032801.5(JAM3):c.897+137_897+138insCACAC	JAM3	Insertion (intron variant)	not provided	GBenign
Select item 1234956	NM_032801.5(JAM3):c.897+138AC[23]	JAM3	Microsatellite (intron variant)	not provided	GBenign
Select item 1219229	NM_032801.5(JAM3):c.897+137_897+140del	JAM3	Deletion (intron variant)	not provided	GLikely benign
Select item 1182052	NM_032801.5(JAM3):c.897+137_897+142del	JAM3	Deletion (intron variant)	not provided	GLikely benign
Select item 1267090	NM_032801.5(JAM3):c.897+138AC[18]	JAM3	Microsatellite (intron variant)	not provided	GBenign
Select item 1237739	NM_032801.5(JAM3):c.897+138AC[19]	JAM3	Microsatellite (intron variant)	not provided	GBenign
Select item 1296723	NM_032801.5(JAM3):c.898-150T>A	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283122	NM_032801.5(JAM3):c.898-61G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249057	NM_032801.5(JAM3):c.*36G>T	JAM3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1198747	NM_032801.5(JAM3):c.*90G>A	JAM3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1328621	NM_032801.5(JAM3):c.*105C>T	JAM3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1245738	NM_032801.5(JAM3):c.*285G>A	JAM3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253940	GRCh37/hg19 11q25(chr11:134019210-134746628)x3	GLB1L2, ACAD8 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253565	GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1	NTM, NFRKB +32 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic

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Items: 54