"Genome-Nilou Lab"[submitter] AND "ADAMTS17"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315245	NM_139057.4(ADAMTS17):c.*82G>A	ADAMTS17	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani 4 syndrome, recessive +1 more	GBenign
Select item 315246	NM_139057.4(ADAMTS17):c.*46C>G	ADAMTS17	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani 4 syndrome, recessive +1 more	GBenign
Select item 315248	NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser)	ADAMTS17 (N1094S)	Single nucleotide variant (missense variant)	Weill-Marchesani 4 syndrome, recessive +1 more	GBenign
Select item 1188951	NM_139057.4(ADAMTS17):c.2950-45C>T	ADAMTS17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188999	NM_139057.4(ADAMTS17):c.2949+35G>A	ADAMTS17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1189000	NM_139057.4(ADAMTS17):c.2796+96G>A	ADAMTS17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 315270	NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=)	ADAMTS17	Single nucleotide variant (synonymous variant)	Weill-Marchesani 4 syndrome, recessive +1 more	GBenign
Select item 315286	NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=)	ADAMTS17, LOC130058037	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 315290	NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr)	ADAMTS17 (M482T)	Single nucleotide variant (missense variant)	Weill-Marchesani 4 syndrome, recessive +1 more	GBenign
Select item 315303	NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1189001	NM_139057.4(ADAMTS17):c.1031+81A>G	ADAMTS17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 315304	NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=)	ADAMTS17	Single nucleotide variant (synonymous variant)	Weill-Marchesani 4 syndrome, recessive +1 more	GBenign
Select item 1189002	NM_139057.4(ADAMTS17):c.873+62C>T	ADAMTS17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1189003	NM_139057.4(ADAMTS17):c.873+58T>C	ADAMTS17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 315309	NM_139057.4(ADAMTS17):c.789+8C>T	ADAMTS17	Single nucleotide variant (intron variant)	Weill-Marchesani 4 syndrome, recessive +1 more	GBenign
Select item 315311	NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 315314	NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu)	ADAMTS17 (S216L)	Single nucleotide variant (missense variant)	Weill-Marchesani 4 syndrome, recessive +1 more	GBenign
Select item 1189004	NM_139057.4(ADAMTS17):c.617-41A>G	ADAMTS17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign