"ITGB6-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035739	NM_000888.5(ITGB6):c.1962G>A (p.Ala654=)	ITGB6	Single nucleotide variant (synonymous variant +1 more)	ITGB6-related disorder	GLikely benign
Select item 3033081	NM_000888.5(ITGB6):c.1883+7T>G	ITGB6	Single nucleotide variant (intron variant)	ITGB6-related disorder	GLikely benign
Select item 3046498	NM_000888.5(ITGB6):c.1782C>T (p.Arg594=)	ITGB6	Single nucleotide variant (synonymous variant +1 more)	ITGB6-related disorder	GLikely benign
Select item 715947	NM_000888.5(ITGB6):c.1188C>T (p.Asn396=)	ITGB6	Single nucleotide variant (synonymous variant)	ITGB6-related disorder +1 more	GBenign
Select item 783345	NM_000888.5(ITGB6):c.1019A>C (p.Asn340Thr)	ITGB6 (N340T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 932373	NM_000888.5(ITGB6):c.855C>T (p.Ile285=)	ITGB6	Single nucleotide variant (synonymous variant)	ITGB6-related disorder +1 more	GLikely benign
Select item 2651464	NM_000888.5(ITGB6):c.396G>A (p.Pro132=)	ITGB6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3044608	NM_000888.5(ITGB6):c.346+4T>C	ITGB6	Single nucleotide variant (intron variant)	ITGB6-related disorder	GLikely benign
Select item 746746	NM_000888.5(ITGB6):c.168C>T (p.Gly56=)	ITGB6 (A41V)	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 778262	NM_000888.5(ITGB6):c.156A>G (p.Pro52=)	ITGB6 (H37R)	Single nucleotide variant (synonymous variant +3 more)	ITGB6-related disorder +1 more	GBenign/Likely benign
Select item 718905	NM_000888.5(ITGB6):c.44G>A (p.Arg15Lys)	ITGB6 (R15K)	Single nucleotide variant (missense variant +1 more)	ITGB6-related disorder +1 more	GBenign