"GeneDx"[submitter] AND "IAH1"[gene] - ClinVar

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Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 1278966	NM_003183.6(ADAM17):c.*290A>G	ADAM17, IAH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1188895	NM_003183.6(ADAM17):c.*75G>A	ADAM17, IAH1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1188896	NM_003183.6(ADAM17):c.*61del	ADAM17, IAH1	Deletion (3 prime UTR variant)	not specified +2 more	GBenign
Select item 1188897	NM_003183.6(ADAM17):c.2083-60A>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1233754	NM_003183.6(ADAM17):c.2082+225A>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178856	NM_003183.6(ADAM17):c.2082+52C>T	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188898	NM_003183.6(ADAM17):c.1994-22A>C	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1188943	NM_003183.6(ADAM17):c.1915-146C>T	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1169868	NM_003183.6(ADAM17):c.1824T>C (p.Ser608=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1295057	NM_003183.6(ADAM17):c.1784-46C>T	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250372	NM_003183.6(ADAM17):c.1783+158G>C	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244026	NM_003183.6(ADAM17):c.1649-26T>C	ADAM17, IAH1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1188944	NM_003183.6(ADAM17):c.1545-73G>A	ADAM17, IAH1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1276308	NM_003183.6(ADAM17):c.1545-116G>A	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263700	NM_003183.6(ADAM17):c.1545-325C>T	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183199	NM_003183.6(ADAM17):c.1345-138G>T	IAH1, ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245694	NM_003183.6(ADAM17):c.1345-295G>A	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232923	NM_003183.6(ADAM17):c.1344+142T>C	ADAM17, IAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227240	NM_003183.6(ADAM17):c.1192-91_1192-90insTTAT	ADAM17, IAH1	Insertion (intron variant)	not provided +1 more	GBenign

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Items: 21