18191[HGNC] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 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	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
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 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	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 2392406	NM_001040446.3(MTMR12):c.2224G>A (p.Val742Met)	MTMR12 (V632M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216019	NM_001040446.3(MTMR12):c.2215G>T (p.Asp739Tyr)	MTMR12 (D739Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296677	NM_001040446.3(MTMR12):c.2197G>A (p.Asp733Asn)	MTMR12 (D679N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296676	NM_001040446.3(MTMR12):c.2173T>C (p.Trp725Arg)	MTMR12 (W615R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363394	NM_001040446.3(MTMR12):c.2129T>C (p.Leu710Pro)	MTMR12 (L600P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296681	NM_001040446.3(MTMR12):c.2098G>A (p.Ala700Thr)	MTMR12 (A700T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544829	NM_001040446.3(MTMR12):c.2075C>G (p.Ala692Gly)	MTMR12 (A638G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312621	NM_001040446.3(MTMR12):c.1995G>C (p.Leu665Phe)	MTMR12 (L611F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296680	NM_001040446.3(MTMR12):c.1853G>C (p.Ser618Thr)	MTMR12 (S564T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791090	NM_001040446.3(MTMR12):c.1826T>C (p.Phe609Ser)	MTMR12 (F555S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2361845	NM_001040446.3(MTMR12):c.1753C>A (p.His585Asn)	MTMR12 (H585N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295740	NM_001040446.3(MTMR12):c.1669T>C (p.Phe557Leu)	LOC114803477, MTMR12 (F557L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356244	NM_001040446.3(MTMR12):c.1667G>A (p.Arg556His)	LOC114803477, MTMR12 (R556H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2405084	NM_001040446.3(MTMR12):c.1666C>T (p.Arg556Cys)	LOC114803477, MTMR12 (R556C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614072	NM_001040446.3(MTMR12):c.1601C>G (p.Thr534Arg)	LOC114803477, MTMR12 (T534R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557549	NM_001040446.3(MTMR12):c.1514G>A (p.Gly505Asp)	LOC114803477, MTMR12 (G505D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215972	NM_001040446.3(MTMR12):c.1472C>A (p.Thr491Asn)	MTMR12 (T491N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221082	NM_001040446.3(MTMR12):c.1456A>G (p.Ile486Val)	MTMR12 (I486V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471897	NM_001040446.3(MTMR12):c.1422G>T (p.Glu474Asp)	MTMR12 (E474D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248429	NM_001040446.3(MTMR12):c.1375G>A (p.Val459Ile)	MTMR12 (V459I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334181	NM_001040446.3(MTMR12):c.1120A>C (p.Ile374Leu)	MTMR12 (I374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788982	NM_001040446.3(MTMR12):c.948C>T (p.Asp316=)	MTMR12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3296678	NM_001040446.3(MTMR12):c.941C>T (p.Thr314Met)	MTMR12 (T314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533472	NM_001040446.3(MTMR12):c.884G>A (p.Ser295Asn)	MTMR12 (S295N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556386	NM_001040446.3(MTMR12):c.848A>C (p.Lys283Thr)	MTMR12 (K283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510161	NM_001040446.3(MTMR12):c.838G>A (p.Ala280Thr)	MTMR12 (A280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216044	NM_001040446.3(MTMR12):c.818G>A (p.Ser273Asn)	MTMR12 (S273N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616704	NM_001040446.3(MTMR12):c.817A>C (p.Ser273Arg)	MTMR12 (S273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621896	NM_001040446.3(MTMR12):c.779A>G (p.His260Arg)	MTMR12 (H260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485667	NM_001040446.3(MTMR12):c.766C>T (p.Arg256Cys)	MTMR12 (R256C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296679	NM_001040446.3(MTMR12):c.706T>A (p.Cys236Ser)	MTMR12 (C236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296683	NM_001040446.3(MTMR12):c.694G>C (p.Gly232Arg)	MTMR12 (G232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590248	NM_001040446.3(MTMR12):c.563C>G (p.Thr188Ser)	MTMR12 (T188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216031	NM_001040446.3(MTMR12):c.539G>A (p.Arg180Gln)	MTMR12 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609759	NM_001040446.3(MTMR12):c.211G>A (p.Val71Ile)	MTMR12 (V71I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216038	NM_001040446.3(MTMR12):c.70G>A (p.Val24Ile)	LOC129993761, MTMR12 (V24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216026	NM_001040446.3(MTMR12):c.41A>G (p.Lys14Arg)	LOC129993761, MTMR12 (K14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 814678	GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1	TARS1, RXFP3 +13 more	Copy number loss	not provided	GUncertain significance
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	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +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

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Items: 64