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

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 59473	GRCh38/hg38 5q33.3(chr5:156991620-157210423)x3	GARIN3, HAVCR1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1233008	NM_005546.4(ITK):c.138+158T>A	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258100	NM_005546.4(ITK):c.243+316C>T	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267673	NM_005546.4(ITK):c.326-157G>A	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267227	NM_005546.4(ITK):c.455-254C>T	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247232	NM_005546.4(ITK):c.455-229G>A	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265355	NM_005546.4(ITK):c.495+22G>A	ITK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1227498	NM_005546.4(ITK):c.647+28C>T	ITK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1266871	NM_005546.4(ITK):c.648-291G>T	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257655	NM_005546.4(ITK):c.768+202AGGG[2]	ITK	Microsatellite (intron variant)	not provided	GBenign
Select item 1266289	NM_005546.4(ITK):c.769-297T>C	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264489	NM_005546.4(ITK):c.769-220G>T	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257541	NM_005546.4(ITK):c.769-164C>T	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264492	NM_005546.4(ITK):c.769-141C>T	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285670	NM_005546.4(ITK):c.852-273T>G	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221812	NM_005546.4(ITK):c.985+75G>A	ITK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1222921	NM_005546.4(ITK):c.985+241C>A	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295389	NM_005546.4(ITK):c.986-188T>C	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170314	NM_005546.4(ITK):c.1232+19G>A	ITK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1263333	NM_005546.4(ITK):c.1232+112C>T	ITK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1269396	NM_005546.4(ITK):c.1232+196C>T	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 577129	NM_005546.4(ITK):c.1343G>A (p.Arg448His)	ITK (R448H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1231109	NM_005546.4(ITK):c.1633+216T>C	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 352476	NM_005546.4(ITK):c.1741C>T (p.Arg581Trp)	ITK (R581W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1294789	NM_005546.4(ITK):c.1792-194G>A	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238669	NM_005546.4(ITK):c.1792-41T>C	ITK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	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: 28