ADAMTS9-AS2[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 2809051	NM_182920.2(ADAMTS9):c.516+2T>C	ADAMTS9, ADAMTS9-AS2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 730289	NM_182920.2(ADAMTS9):c.474C>T (p.Thr158=)	ADAMTS9, ADAMTS9-AS2	Single nucleotide variant (synonymous variant)	ADAMTS9-related disorder +1 more	GBenign/Likely benign
Select item 1349467	NM_182920.2(ADAMTS9):c.422C>A (p.Ser141Tyr)	ADAMTS9, ADAMTS9-AS2 (S141Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2778070	NM_182920.2(ADAMTS9):c.407A>T (p.Gln136Leu)	ADAMTS9, ADAMTS9-AS2 (Q136L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100321	NM_182920.2(ADAMTS9):c.402G>A (p.Val134=)	ADAMTS9, ADAMTS9-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084721	NM_182920.2(ADAMTS9):c.393G>T (p.Thr131=)	ADAMTS9, ADAMTS9-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904734	NM_182920.2(ADAMTS9):c.352G>A (p.Gly118Arg)	ADAMTS9, ADAMTS9-AS2 (G118R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722153	NM_182920.2(ADAMTS9):c.351C>T (p.Ala117=)	ADAMTS9, ADAMTS9-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3268017	NM_182920.2(ADAMTS9):c.316G>A (p.Gly106Ser)	ADAMTS9, ADAMTS9-AS2 (G106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277022	NM_182920.2(ADAMTS9):c.286T>A (p.Ser96Thr)	ADAMTS9, ADAMTS9-AS2 (S96T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 778087	NM_182920.2(ADAMTS9):c.259G>T (p.Ala87Ser)	ADAMTS9, ADAMTS9-AS2 (A87S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3078555	NM_182920.2(ADAMTS9):c.253G>A (p.Ala85Thr)	ADAMTS9, ADAMTS9-AS2 (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791934	NM_182920.2(ADAMTS9):c.226A>G (p.Ile76Val)	ADAMTS9, ADAMTS9-AS2 (I76V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2343411	NM_182920.2(ADAMTS9):c.199G>T (p.Val67Phe)	ADAMTS9, ADAMTS9-AS2 (V67F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344640	NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg)	ADAMTS9, ADAMTS9-AS2 (T65R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2594432	NM_182920.2(ADAMTS9):c.182A>T (p.Glu61Val)	ADAMTS9, ADAMTS9-AS2 (E61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229001	NM_182920.2(ADAMTS9):c.129G>T (p.Glu43Asp)	ADAMTS9, ADAMTS9-AS2 (E43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263244	NM_182920.2(ADAMTS9):c.116-80C>G	ADAMTS9, ADAMTS9-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2298693	NM_182920.2(ADAMTS9):c.85G>A (p.Val29Met)	ADAMTS9, ADAMTS9-AS2 (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2419315	NM_182920.2(ADAMTS9):c.48C>A (p.Asp16Glu)	ADAMTS9, ADAMTS9-AS2 (D16E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3078683	NM_182920.2(ADAMTS9):c.46G>A (p.Asp16Asn)	ADAMTS9, ADAMTS9-AS2 (D16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719075	NM_182920.2(ADAMTS9):c.39G>T (p.Leu13=)	ADAMTS9, ADAMTS9-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 162162	NR_038264.1(ADAMTS9-AS2):n.469+34351C>T	ADAMTS9-AS2	Single nucleotide variant	not provided	Gnot provided
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic

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Items: 28