"PreventionGenetics, part of Exact Sciences"[submitter] AND "ADAMTS18" - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1134410	NM_199355.4(ADAMTS18):c.3290G>A (p.Arg1097His)	ADAMTS18 (R1097H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1102336	NM_199355.4(ADAMTS18):c.3262C>A (p.Leu1088Met)	ADAMTS18 (L1088M +1 more)	Single nucleotide variant (missense variant)	ADAMTS18-related disorder +1 more	GLikely benign
Select item 1651008	NM_199355.4(ADAMTS18):c.3190-10T>C	ADAMTS18	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 725287	NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp)	ADAMTS18 (R1053W +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 736392	NM_199355.4(ADAMTS18):c.2954C>G (p.Ala985Gly)	ADAMTS18 (A985G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1654665	NM_199355.4(ADAMTS18):c.2919T>G (p.Ser973=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1124730	NM_199355.4(ADAMTS18):c.2907A>C (p.Ala969=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1554609	NM_199355.4(ADAMTS18):c.2889C>T (p.Pro963=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 781227	NM_199355.4(ADAMTS18):c.2868C>G (p.Ile956Met)	ADAMTS18 (I784M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 795056	NM_199355.4(ADAMTS18):c.2826A>G (p.Thr942=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2114846	NM_199355.4(ADAMTS18):c.2802-8A>G	ADAMTS18	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1115627	NM_199355.4(ADAMTS18):c.2781C>T (p.Asn927=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1165565	NM_199355.4(ADAMTS18):c.2480G>A (p.Arg827His)	ADAMTS18 (R655H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2958648	NM_199355.4(ADAMTS18):c.2418C>T (p.Ile806=)	ADAMTS18	Single nucleotide variant (synonymous variant)	ADAMTS18-related disorder +1 more	GLikely benign
Select item 1123730	NM_199355.4(ADAMTS18):c.2409C>A (p.Gly803=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 838682	NM_199355.4(ADAMTS18):c.2380C>G (p.Leu794Val)	ADAMTS18 (L622V +1 more)	Single nucleotide variant (missense variant)	ADAMTS18-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1168817	NM_199355.4(ADAMTS18):c.2298G>A (p.Pro766=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1089403	NM_199355.4(ADAMTS18):c.1979G>A (p.Ser660Asn)	ADAMTS18 (S488N +1 more)	Single nucleotide variant (missense variant)	ADAMTS18-related disorder +1 more	GLikely benign
Select item 1136703	NM_199355.4(ADAMTS18):c.1545T>C (p.Tyr515=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1081858	NM_199355.4(ADAMTS18):c.1217-5A>G	ADAMTS18	Single nucleotide variant (intron variant)	ADAMTS18-related disorder +1 more	GLikely benign
Select item 1375282	NM_199355.4(ADAMTS18):c.1048C>T (p.Gln350Ter)	ADAMTS18 (Q350* +1 more)	Single nucleotide variant (nonsense)	ADAMTS18-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1155392	NM_199355.4(ADAMTS18):c.1017C>T (p.Asn339=)	ADAMTS18	Single nucleotide variant (synonymous variant)	ADAMTS18-related disorder +1 more	GLikely benign
Select item 1155933	NM_199355.4(ADAMTS18):c.972+7G>A	ADAMTS18	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1077786	NM_199355.4(ADAMTS18):c.894C>T (p.Leu298=)	ADAMTS18	Single nucleotide variant (synonymous variant)	ADAMTS18-related disorder +1 more	GLikely benign
Select item 2630547	NM_199355.4(ADAMTS18):c.778+5G>T	ADAMTS18	Single nucleotide variant (intron variant +1 more)	ADAMTS18-related disorder	GLikely pathogenic
Select item 1941724	NM_199355.4(ADAMTS18):c.719A>T (p.Glu240Val)	ADAMTS18 (R67* +1 more)	Single nucleotide variant (nonsense +1 more)	ADAMTS18-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1122119	NM_199355.4(ADAMTS18):c.654C>T (p.Pro218=)	ADAMTS18 (P45L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 718207	NM_199355.4(ADAMTS18):c.438G>C (p.Gln146His)	ADAMTS18 (Q146H)	Single nucleotide variant (5 prime UTR variant +1 more)	ADAMTS18-related disorder +1 more	GLikely benign
Select item 1152851	NM_199355.4(ADAMTS18):c.340C>A (p.Pro114Thr)	ADAMTS18 (P114T)	Single nucleotide variant (5 prime UTR variant +1 more)	ADAMTS18-related disorder +1 more	GLikely benign
Select item 3057354	NM_199355.4(ADAMTS18):c.195G>T (p.Thr65=)	ADAMTS18	Single nucleotide variant (5 prime UTR variant +1 more)	ADAMTS18-related disorder	GLikely benign
Select item 3046680	NM_199355.4(ADAMTS18):c.159C>T (p.Gly53=)	ADAMTS18	Single nucleotide variant (5 prime UTR variant +1 more)	ADAMTS18-related disorder	GLikely benign
Select item 1123920	NM_199355.4(ADAMTS18):c.69G>A (p.Ala23=)	ADAMTS18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign

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Items: 32