ClinVar for Gene (Select 51289) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684412	GRCh37/hg19 5p13.3-13.2(chr5:33303213-34037349)x3	ADAMTS12, AMACR +4 more	Copy number gain	not provided	GUncertain significance
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2618301	NM_016568.3(RXFP3):c.560C>A (p.Ala187Asp)	RXFP3 (A187D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617799	NM_016568.3(RXFP3):c.301C>G (p.Leu101Val)	RXFP3 (L101V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599131	NM_016568.3(RXFP3):c.947C>T (p.Ala316Val)	RXFP3 (A316V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589213	NM_016568.3(RXFP3):c.406C>A (p.Pro136Thr)	RXFP3 (P136T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518983	NM_016568.3(RXFP3):c.850A>G (p.Ile284Val)	RXFP3 (I284V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507983	NM_016568.3(RXFP3):c.617T>C (p.Leu206Pro)	RXFP3 (L206P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488979	NM_016568.3(RXFP3):c.1058A>G (p.Lys353Arg)	RXFP3 (K353R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488650	NM_016568.3(RXFP3):c.1216C>G (p.Arg406Gly)	RXFP3 (R406G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488482	NM_016568.3(RXFP3):c.1309C>A (p.Pro437Thr)	RXFP3 (P437T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476597	NM_016568.3(RXFP3):c.1287G>C (p.Gln429His)	RXFP3 (Q429H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336735	NM_016568.3(RXFP3):c.1296G>C (p.Gln432His)	RXFP3 (Q432H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309734	NM_016568.3(RXFP3):c.346T>C (p.Ser116Pro)	RXFP3 (S116P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308571	NM_016568.3(RXFP3):c.427G>T (p.Ala143Ser)	RXFP3 (A143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292769	NM_016568.3(RXFP3):c.1026C>A (p.Asn342Lys)	RXFP3 (N342K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290876	NM_016568.3(RXFP3):c.58A>C (p.Lys20Gln)	RXFP3 (K20Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287077	NM_016568.3(RXFP3):c.896C>G (p.Ala299Gly)	RXFP3 (A299G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265575	NM_016568.3(RXFP3):c.668C>G (p.Ala223Gly)	RXFP3 (A223G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261136	NM_016568.3(RXFP3):c.1223C>A (p.Ala408Glu)	RXFP3 (A408E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253409	NM_016568.3(RXFP3):c.326T>G (p.Met109Arg)	RXFP3 (M109R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250514	NM_016568.3(RXFP3):c.888C>G (p.Asp296Glu)	RXFP3 (D296E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234556	NM_016568.3(RXFP3):c.314T>C (p.Leu105Pro)	RXFP3 (L105P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230434	NM_016568.3(RXFP3):c.349A>G (p.Ile117Val)	RXFP3 (I117V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 979507	GRCh37/hg19 5p13.3-13.2(chr5:33501565-34167822)x3	ADAMTS12, SLC45A2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814678	GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1	TARS1, RXFP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 773190	NM_016568.3(RXFP3):c.370C>T (p.Leu124=)	RXFP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394369	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1	ADAMTS12, ADAMTS16 +82 more	Copy number loss	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	LOC129993646, LOC129993647 +530 more	Copy number gain	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	LOC129993773, LOC129993774 +116 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LOC126807356, LOC128772262 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57