"ITGA4-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057404	NM_000885.6(ITGA4):c.1074C>T (p.Leu358=)	ITGA4	Single nucleotide variant (synonymous variant)	ITGA4-related disorder	GLikely benign
Select item 3044797	NM_000885.6(ITGA4):c.1340-8T>A	ITGA4	Single nucleotide variant (intron variant)	ITGA4-related disorder	GLikely benign
Select item 2651733	NM_000885.6(ITGA4):c.1582G>C (p.Glu528Gln)	ITGA4 (E528Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3035985	NM_000885.6(ITGA4):c.1639A>G (p.Ser547Gly)	ITGA4 (S547G)	Single nucleotide variant (missense variant)	ITGA4-related disorder	GUncertain significance
Select item 709073	NM_000885.6(ITGA4):c.1900T>A (p.Ser634Thr)	ITGA4 (S634T)	Single nucleotide variant (missense variant)	ITGA4-related disorder +1 more	GBenign
Select item 3044366	NM_000885.6(ITGA4):c.2019G>A (p.Thr673=)	ITGA4	Single nucleotide variant (synonymous variant)	ITGA4-related disorder	GLikely benign
Select item 218473	NM_000885.6(ITGA4):c.2471T>C (p.Val824Ala)	ITGA4 (V824A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 730668	NM_000885.6(ITGA4):c.2539-10G>T	ITGA4	Single nucleotide variant (intron variant)	ITGA4-related disorder +1 more	GBenign
Select item 3052620	NM_000885.6(ITGA4):c.2880G>A (p.Ala960=)	ITGA4	Single nucleotide variant (synonymous variant)	ITGA4-related disorder	GLikely benign
Select item 3030704	NM_000885.6(ITGA4):c.3004-11_3004-3dup	ITGA4	Duplication (intron variant)	ITGA4-related disorder	GLikely benign