"GeneDx"[submitter] AND "ITGB2"[gene] - ClinVar

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Items: 66

	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 340133	NM_000211.5(ITGB2):c.*145C>A	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1 +1 more	GBenign
Select item 340134	NM_000211.5(ITGB2):c.*122G>A	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1 +1 more	GBenign
Select item 100751	NM_000211.5(ITGB2):c.2247+57C>T	ITGB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1268512	NM_000211.5(ITGB2):c.2247+44G>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420118	NM_000211.5(ITGB2):c.2146G>C (p.Gly716Arg)	ITGB2 (G716R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 340139	NM_000211.5(ITGB2):c.2145C>T (p.Ile715=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 1291081	NM_000211.5(ITGB2):c.2080+167G>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419640	NM_000211.5(ITGB2):c.2013G>A (p.Trp671Ter)	ITGB2 (W671* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 100749	NM_000211.5(ITGB2):c.1878-45dup	ITGB2	Duplication (intron variant)	not specified +2 more	GBenign
Select item 1281873	NM_000211.5(ITGB2):c.1878-85T>C	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286309	NM_000211.5(ITGB2):c.1878-176A>G	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222910	NM_000211.5(ITGB2):c.1877+160_1877+161del	ITGB2	Deletion (intron variant)	not provided	GBenign
Select item 420119	NM_000211.5(ITGB2):c.1768T>C (p.Cys590Arg)	ITGB2 (C590R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 9463	NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)	ITGB2 (R586W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 265200	NM_000211.5(ITGB2):c.1602C>A (p.Cys534Ter)	ITGB2 (C534* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1228625	NM_000211.5(ITGB2):c.1413-82A>G	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 340155	NM_000211.5(ITGB2):c.1323T>C (p.Val441=)	ITGB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 860958	NM_000211.5(ITGB2):c.1274C>T (p.Ser425Leu)	ITGB2 (S356L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1257308	NM_000211.5(ITGB2):c.1225-107C>T	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245686	NM_000211.5(ITGB2):c.1225-201C>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286598	NM_000211.5(ITGB2):c.1224+179G>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250435	NM_000211.5(ITGB2):c.1224+178T>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100746	NM_000211.5(ITGB2):c.1101C>A (p.Val367=)	ITGB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 100745	NM_000211.5(ITGB2):c.1062= (p.His354=)	ITGB2	Single nucleotide variant (no sequence alteration)	Leukocyte adhesion deficiency 1 +1 more	GBenign
Select item 100765	NM_000211.5(ITGB2):c.994-47G>A	ITGB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1247653	NM_000211.5(ITGB2):c.993+42T>C	ITGB2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 419728	NM_000211.5(ITGB2):c.991G>T (p.Glu331Ter)	ITGB2 (E331* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1260690	NM_000211.5(ITGB2):c.897+312C>T	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282880	NM_000211.5(ITGB2):c.897+272del	ITGB2	Deletion (intron variant)	not provided	GBenign
Select item 1244187	NM_000211.5(ITGB2):c.897+270C>G	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 9469	NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)	ITGB2 (G284S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 100761	NM_000211.5(ITGB2):c.819G>A (p.Gly273=)	ITGB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 9471	NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)	ITGB2 (G273R +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1 +1 more	GPathogenic/Likely pathogenic
Select item 999697	NM_000211.5(ITGB2):c.809C>T (p.Ala270Val)	ITGB2 (A201V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 897929	NM_000211.5(ITGB2):c.808G>A (p.Ala270Thr)	ITGB2 (A201T +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1 +1 more	GUncertain significance
Select item 100760	NM_000211.5(ITGB2):c.742-13G>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1 +2 more	GBenign
Select item 1266760	NM_000211.5(ITGB2):c.742-179_742-163del	ITGB2	Deletion (intron variant)	not provided	GBenign
Select item 1279737	NM_000211.5(ITGB2):c.742-197G>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234373	NM_000211.5(ITGB2):c.741+235G>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225929	NM_000211.5(ITGB2):c.741+200C>T	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288547	NM_000211.5(ITGB2):c.741+181G>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430061	NM_000211.5(ITGB2):c.741+1G>A	ITGB2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 100756	NM_000211.5(ITGB2):c.500-11G>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1 +2 more	GBenign
Select item 1291072	NM_000211.5(ITGB2):c.500-29C>T	ITGB2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1276148	NM_000211.5(ITGB2):c.500-170T>C	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245528	NM_000211.5(ITGB2):c.500-299C>T	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 340172	NM_000211.5(ITGB2):c.499+7C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1 +1 more	GBenign
Select item 9467	NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn)	ITGB2 (D128N +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1 +1 more	GPathogenic/Likely pathogenic
Select item 1246759	NM_000211.5(ITGB2):c.329-73C>T	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284157	NM_000211.5(ITGB2):c.329-281A>G	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266196	NM_000211.5(ITGB2):c.328+252G>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263253	NM_000211.5(ITGB2):c.328+181C>T	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 340174	NM_000211.5(ITGB2):c.328+15G>A	ITGB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 838604	NM_000211.5(ITGB2):c.314T>C (p.Leu105Pro)	ITGB2 (L105P +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 381672	NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn)	ITGB2 (D77N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 3364772	NM_000211.5(ITGB2):c.161C>T (p.Pro54Leu)	ITGB2 (P54L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 377981	NM_000211.5(ITGB2):c.148-16G>T	ITGB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1282633	NM_000211.5(ITGB2):c.148-131G>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252356	NM_000211.5(ITGB2):c.148-277C>T	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165143	NM_000211.5(ITGB2):c.147+16A>G	ITGB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 381673	NM_000211.5(ITGB2):c.79A>T (p.Lys27Ter)	ITGB2 (K27*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 100758	NM_000211.5(ITGB2):c.58+12G>A	ITGB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 100753	NM_000211.5(ITGB2):c.24G>T (p.Leu8=)	ITGB2	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 1 +2 more	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

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Items: 66