Related gene-specific medical variations for Gene (Select 170691) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065118	NM_139057.4(ADAMTS17):c.197_206del (p.Arg66fs)	ADAMTS17 (R66fs)	Deletion (frameshift variant)	Weill-Marchesani 4 syndrome, recessive	GLikely pathogenic
Select item 3063390	GRCh37/hg19 15q26.3(chr15:100614375-100892894)x1	ADAMTS17	Copy number loss	not specified	GUncertain significance
Select item 2890571	NM_139057.4(ADAMTS17):c.1683G>A (p.Thr561=)	ADAMTS17, LOC130058037	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885930	NM_139057.4(ADAMTS17):c.1716C>T (p.Asn572=)	ADAMTS17, LOC130058037	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849004	NM_139057.4(ADAMTS17):c.1721+7C>A	ADAMTS17, LOC130058037	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2164933	NM_139057.4(ADAMTS17):c.1670G>A (p.Arg557Gln)	ADAMTS17, LOC130058037 (R557Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065127	NM_139057.4(ADAMTS17):c.1690C>T (p.Arg564Cys)	ADAMTS17, LOC130058037 (R564C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918695	NM_139057.4(ADAMTS17):c.1691G>T (p.Arg564Leu)	ADAMTS17, LOC130058037 (R564L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917870	NM_139057.4(ADAMTS17):c.1696_1697delinsCA (p.Arg566Gln)	ADAMTS17, LOC130058037 (R566Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 1650674	NM_139057.4(ADAMTS17):c.1689C>T (p.Ala563=)	ADAMTS17, LOC130058037	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526479	GRCh37/hg19 15q26.3(chr15:100680996-100873508)	ADAMTS17	Copy number loss	not specified	GUncertain significance
Select item 1516699	NM_139057.4(ADAMTS17):c.1685G>T (p.Gly562Val)	ADAMTS17, LOC130058037 (G562V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1468419	NM_139057.4(ADAMTS17):c.1691G>A (p.Arg564His)	ADAMTS17, LOC130058037 (R564H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 980649	GRCh37/hg19 15q26.3(chr15:100409780-100541504)x1	ADAMTS17	Copy number loss	not provided	GLikely benign
Select item 887825	NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu)	ADAMTS17, LOC130058037 (P574L)	Single nucleotide variant (missense variant)	Weill-Marchesani 4 syndrome, recessive	GUncertain significance
Select item 688739	GRCh37/hg19 15q26.3(chr15:100629063-100663184)x1	ADAMTS17	Copy number loss	not provided	GPathogenic
Select item 687803	GRCh37/hg19 15q26.3(chr15:100736690-100785790)x1	ADAMTS17	Copy number loss	not provided	GPathogenic
Select item 686321	GRCh37/hg19 15q26.3(chr15:100492705-100541504)x1	ADAMTS17	Copy number loss	not provided	GPathogenic
Select item 564244	GRCh37/hg19 15q26.3(chr15:100785899-100911698)x1	ADAMTS17	Copy number loss	not provided	GUncertain significance
Select item 564243	GRCh37/hg19 15q26.3(chr15:100765384-100858051)x1	ADAMTS17	Copy number loss	not provided	GUncertain significance
Select item 564242	GRCh37/hg19 15q26.3(chr15:100614375-100911698)x1	ADAMTS17	Copy number loss	not provided	GUncertain significance
Select item 564240	GRCh37/hg19 15q26.3(chr15:100502292-100934533)x3	ADAMTS17	Copy number gain	not provided	GLikely benign
Select item 564239	GRCh37/hg19 15q26.3(chr15:100456419-100758385)x1	ADAMTS17	Copy number loss	not provided	GUncertain significance
Select item 564238	GRCh37/hg19 15q26.3(chr15:100343656-100597985)x3	ADAMTS17	Copy number gain	not provided	GLikely benign
Select item 493561	GRCh37/hg19 15q26.3(chr15:100442755-100537341)x3	ADAMTS17	Copy number gain	not provided	GLikely benign
Select item 442074	GRCh37/hg19 15q26.3(chr15:100343656-100599233)x4	ADAMTS17	Copy number gain	See cases	GUncertain significance
Select item 441832	GRCh37/hg19 15q26.3(chr15:100614375-100911698)x1	ADAMTS17	Copy number loss	See cases	GLikely benign
Select item 315287	NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met)	ADAMTS17, LOC130058037 (T561M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 315285	NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser)	ADAMTS17, LOC130058037 (P574S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3155	NM_139057.4(ADAMTS17):c.1721+1G>A	ADAMTS17, LOC130058037	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Links from Gene

Items: 31