"PreventionGenetics, part of Exact Sciences"[submitter] AND "ADAMTS3"[ - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 787029	NM_014243.3(ADAMTS3):c.3443C>T (p.Pro1148Leu)	ADAMTS3 (P1148L)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder +1 more	GBenign
Select item 2654804	NM_014243.3(ADAMTS3):c.3365G>A (p.Ser1122Asn)	ADAMTS3 (S1122N)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder +1 more	GLikely benign
Select item 736238	NM_014243.3(ADAMTS3):c.3183C>T (p.Tyr1061=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 717678	NM_014243.3(ADAMTS3):c.2825A>G (p.Asn942Ser)	ADAMTS3 (N942S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3031719	NM_014243.3(ADAMTS3):c.2391C>T (p.Thr797=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 3053627	NM_014243.3(ADAMTS3):c.2322G>A (p.Ser774=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 3057651	NM_014243.3(ADAMTS3):c.1977C>T (p.Tyr659=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 2654808	NM_014243.3(ADAMTS3):c.1694G>A (p.Arg565Gln)	ADAMTS3 (R565Q)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder +1 more	GLikely benign
Select item 3054087	NM_014243.3(ADAMTS3):c.1677A>G (p.Lys559=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 3038420	NM_014243.3(ADAMTS3):c.1537C>A (p.Pro513Thr)	ADAMTS3 (P513T)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder	GBenign
Select item 3029401	NM_014243.3(ADAMTS3):c.1379C>T (p.Pro460Leu)	ADAMTS3 (P460L)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder	GUncertain significance
Select item 1711590	NM_014243.3(ADAMTS3):c.1347T>C (p.Tyr449=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 785095	NM_014243.3(ADAMTS3):c.1254G>A (p.Glu418=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3043969	NM_014243.3(ADAMTS3):c.1242G>A (p.Arg414=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 2654810	NM_014243.3(ADAMTS3):c.1017G>A (p.Gln339=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder +1 more	GLikely benign
Select item 2654812	NM_014243.3(ADAMTS3):c.862-4C>T	ADAMTS3	Single nucleotide variant (intron variant)	ADAMTS3-related disorder +1 more	GBenign
Select item 2654813	NM_014243.3(ADAMTS3):c.862-5G>T	ADAMTS3	Single nucleotide variant (intron variant)	ADAMTS3-related disorder +1 more	GBenign
Select item 3056321	NM_014243.3(ADAMTS3):c.819C>A (p.Gly273=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GBenign
Select item 3033688	NM_014243.3(ADAMTS3):c.690A>C (p.Leu230=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 780467	NM_014243.3(ADAMTS3):c.661+7G>A	ADAMTS3	Single nucleotide variant (intron variant)	ADAMTS3-related disorder +2 more	GBenign/Likely benign
Select item 3040722	NM_014243.3(ADAMTS3):c.655T>C (p.Tyr219His)	ADAMTS3 (Y219H)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder	GBenign
Select item 1189006	NM_014243.3(ADAMTS3):c.413G>A (p.Arg138Lys)	ADAMTS3 (R138K)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 3 +1 more	GBenign
Select item 3046939	NM_014243.3(ADAMTS3):c.399G>A (p.Thr133=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 3039570	NM_014243.3(ADAMTS3):c.331C>T (p.His111Tyr)	ADAMTS3 (H111Y)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder	GBenign
Select item 3059242	NM_014243.3(ADAMTS3):c.70-5del	ADAMTS3	Deletion (intron variant)	ADAMTS3-related disorder	GBenign
Select item 3056027	NM_014243.3(ADAMTS3):c.57A>G (p.Ser19=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign

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Items: 26