"PreventionGenetics, part of Exact Sciences"[submitter] AND "ITGB2"[ge - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 340139	NM_000211.5(ITGB2):c.2145C>T (p.Ile715=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +2 more	GConflicting classifications of pathogenicity
Select item 1604803	NM_000211.5(ITGB2):c.2080+9G>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1 +1 more	GLikely benign
Select item 340141	NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys)	ITGB2 (R684C +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 1090088	NM_000211.5(ITGB2):c.1797C>T (p.Asn599=)	ITGB2	Single nucleotide variant (synonymous variant)	ITGB2-related disorder +1 more	GLikely benign
Select item 9458	NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys)	ITGB2 (R593C +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1 +1 more	GPathogenic
Select item 9463	NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)	ITGB2 (R586W +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1 +2 more	GBenign/Likely benign
Select item 461473	NM_000211.5(ITGB2):c.1657+9G>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1 +1 more	GBenign
Select item 530688	NM_000211.5(ITGB2):c.1635C>T (p.Asn545=)	ITGB2	Single nucleotide variant (synonymous variant)	ITGB2-related disorder +1 more	GBenign/Likely benign
Select item 762573	NM_000211.5(ITGB2):c.1590C>T (p.Tyr530=)	ITGB2	Single nucleotide variant (synonymous variant)	ITGB2-related disorder +1 more	GLikely benign
Select item 1115149	NM_000211.5(ITGB2):c.1569C>T (p.Asp523=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +1 more	GLikely benign
Select item 340152	NM_000211.5(ITGB2):c.1464G>A (p.Arg488=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 579367	NM_000211.5(ITGB2):c.1343G>A (p.Arg448Gln)	ITGB2 (R448Q +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1 +2 more	GUncertain significance
Select item 1148901	NM_000211.5(ITGB2):c.1116C>T (p.Asn372=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +1 more	GLikely benign
Select item 340160	NM_000211.5(ITGB2):c.1002C>T (p.Thr334=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +1 more	GBenign/Likely benign
Select item 641623	NM_000211.5(ITGB2):c.854G>A (p.Arg285His)	ITGB2 (R285H +1 more)	Single nucleotide variant (missense variant)	ITGB2-related disorder +1 more	GUncertain significance
Select item 1161415	NM_000211.5(ITGB2):c.846C>T (p.Asn282=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +1 more	GLikely benign
Select item 530691	NM_000211.5(ITGB2):c.807C>T (p.Phe269=)	ITGB2	Single nucleotide variant (synonymous variant)	ITGB2-related disorder +1 more	GBenign/Likely benign
Select item 721707	NM_000211.5(ITGB2):c.711G>A (p.Leu237=)	ITGB2	Single nucleotide variant (synonymous variant)	ITGB2-related disorder +1 more	GLikely benign
Select item 1095642	NM_000211.5(ITGB2):c.618C>T (p.His206=)	ITGB2	Single nucleotide variant (synonymous variant)	ITGB2-related disorder +1 more	GLikely benign
Select item 340169	NM_000211.5(ITGB2):c.537C>T (p.Phe179=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 340171	NM_000211.5(ITGB2):c.525C>T (p.Thr175=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 2056203	NM_000211.5(ITGB2):c.329-5G>C	ITGB2	Single nucleotide variant (intron variant)	ITGB2-related disorder +1 more	GLikely benign
Select item 626120	NM_000211.5(ITGB2):c.311C>T (p.Thr104Met)	ITGB2 (T104M +1 more)	Single nucleotide variant (missense variant)	ITGB2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3054479	NM_000211.5(ITGB2):c.279G>T (p.Gly93=)	ITGB2	Single nucleotide variant (synonymous variant)	ITGB2-related disorder	GLikely benign
Select item 340177	NM_000211.5(ITGB2):c.228C>T (p.Asp76=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 2630823	NM_000211.5(ITGB2):c.116del (p.Ser39fs)	ITGB2 (S39fs)	Deletion (frameshift variant +1 more)	ITGB2-related disorder	GLikely pathogenic
Select item 773094	NM_000211.5(ITGB2):c.13C>T (p.Arg5Cys)	ITGB2 (R5C)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 1 +1 more	GBenign/Likely benign

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Items: 27