"PreventionGenetics, part of Exact Sciences"[submitter] AND "ADAM17"[g - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1116178	NM_003183.6(ADAM17):c.2319C>T (p.Asp773=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	ADAM17-related disorder +1 more	GLikely benign
Select item 539952	NM_003183.6(ADAM17):c.2017G>A (p.Val673Ile)	ADAM17, IAH1 (V673I)	Single nucleotide variant (missense variant)	ADAM17-related disorder +1 more	GBenign/Likely benign
Select item 3057915	NM_003183.6(ADAM17):c.1992T>C (p.Phe664=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	ADAM17-related disorder	GLikely benign
Select item 2113619	NM_003183.6(ADAM17):c.1965C>A (p.Phe655Leu)	ADAM17, IAH1 (F356L +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GUncertain significance
Select item 733394	NM_003183.6(ADAM17):c.1317T>C (p.Ala439=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GBenign/Likely benign
Select item 3033445	NM_003183.6(ADAM17):c.958-9C>G	ADAM17	Single nucleotide variant (intron variant)	ADAM17-related disorder	GLikely benign
Select item 1651005	NM_003183.6(ADAM17):c.654A>G (p.Pro218=)	ADAM17	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GLikely benign
Select item 1154607	NM_003183.6(ADAM17):c.362-9del	ADAM17	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GLikely benign
Select item 1544532	NM_003183.6(ADAM17):c.230+9A>G	ADAM17	Single nucleotide variant (intron variant)	ADAM17-related disorder +1 more	GLikely benign
Select item 472722	NM_003183.6(ADAM17):c.148A>G (p.Ile50Val)	ADAM17 (I50V)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign