Related gene-specific medical variations for Gene (Select 9510) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266348	NM_006988.5(ADAMTS1):c.924G>T (p.Lys308Asn)	ADAMTS1, LOC126653334 (K308N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146568	NM_006988.5(ADAMTS1):c.742A>C (p.Ile248Leu)	ADAMTS1, LOC126653334 (I248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652577	NM_006988.5(ADAMTS1):c.837G>A (p.Lys279=)	ADAMTS1, LOC126653334	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2368268	NM_006988.5(ADAMTS1):c.1034G>A (p.Arg345Gln)	ADAMTS1, LOC126653334 (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343410	NM_006988.5(ADAMTS1):c.809T>C (p.Met270Thr)	ADAMTS1, LOC126653334 (M270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294237	NM_006988.5(ADAMTS1):c.943G>A (p.Glu315Lys)	ADAMTS1, LOC126653334 (E315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996081	NM_006988.5(ADAMTS1):c.403T>G (p.Ser135Ala)	ADAMTS1 (S135A)	Single nucleotide variant (missense variant)	Nonsyndromic hearing impairment	GUncertain significance
Select item 778902	NM_006988.5(ADAMTS1):c.1078-9dup	ADAMTS1, LOC126653334	Duplication (intron variant)	not provided	GBenign
Select item 712819	NM_006988.5(ADAMTS1):c.1077+7G>A	ADAMTS1, LOC126653334	Single nucleotide variant (intron variant)	not provided	GBenign