ClinVar for Gene (Select 23161) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167148	NM_015132.5(SNX13):c.548A>G (p.Asp183Gly)	SNX13 (D103G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3167147	NM_015132.5(SNX13):c.508C>G (p.Arg170Gly)	SNX13 (R170G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3167146	NM_015132.5(SNX13):c.2740G>A (p.Gly914Ser)	SNX13 (G914S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167145	NM_015132.5(SNX13):c.2731T>C (p.Phe911Leu)	SNX13 (F809L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167144	NM_015132.5(SNX13):c.2645T>C (p.Ile882Thr)	SNX13 (I802T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167143	NM_015132.5(SNX13):c.2138G>A (p.Ser713Asn)	SNX13 (S611N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167142	NM_015132.5(SNX13):c.1982C>T (p.Ala661Val)	SNX13 (A458V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167141	NM_015132.5(SNX13):c.1762C>T (p.Arg588Cys)	SNX13 (R486C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167140	NM_015132.5(SNX13):c.1719T>A (p.Asp573Glu)	SNX13 (D493E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167139	NM_015132.5(SNX13):c.1531C>T (p.Arg511Cys)	SNX13 (R431C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167138	NM_015132.5(SNX13):c.1418A>G (p.Asn473Ser)	SNX13 (N393S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167137	NM_015132.5(SNX13):c.1268G>A (p.Arg423His)	SNX13 (R321H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167136	NM_015132.5(SNX13):c.1090G>C (p.Ala364Pro)	SNX13 (A161P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2685235	GRCh37/hg19 7p21.1(chr7:17744319-17855792)x1	SNX13	Copy number loss	not provided	GUncertain significance
Select item 2664509	GRCh37/hg19 7p21.1(chr7:17930686-19059254)x1	HDAC9, PRPS1L1 +1 more	Copy number loss	Syndromic craniosynostosis	GLikely pathogenic
Select item 2657330	NM_015132.5(SNX13):c.1110C>T (p.Cys370=)	SNX13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657329	NM_015132.5(SNX13):c.1152A>G (p.Leu384=)	SNX13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619821	NM_015132.5(SNX13):c.2788A>G (p.Asn930Asp)	SNX13 (N850D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612765	NM_015132.5(SNX13):c.740G>A (p.Arg247Gln)	SNX13 (R167Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611591	NM_015132.5(SNX13):c.778C>T (p.Leu260Phe)	SNX13 (L158F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607479	NM_015132.5(SNX13):c.2248A>G (p.Thr750Ala)	SNX13 (T648A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599642	NM_015132.5(SNX13):c.775C>A (p.Leu259Ile)	SNX13 (L157I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598960	NM_015132.5(SNX13):c.2105A>C (p.Asn702Thr)	SNX13 (N713T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593175	NM_015132.5(SNX13):c.1888A>G (p.Thr630Ala)	SNX13 (T550A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590444	NM_015132.5(SNX13):c.547G>A (p.Asp183Asn)	SNX13 (D183N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568648	NM_015132.5(SNX13):c.237A>C (p.Glu79Asp)	SNX13 (E79D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2562388	NM_015132.5(SNX13):c.1382A>G (p.Asp461Gly)	SNX13 (D381G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554713	NM_015132.5(SNX13):c.158C>G (p.Thr53Arg)	SNX13 (T53R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553551	NM_015132.5(SNX13):c.895A>G (p.Asn299Asp)	SNX13 (N197D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537155	NM_015132.5(SNX13):c.1412C>T (p.Thr471Ile)	SNX13 (T268I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535977	NM_015132.5(SNX13):c.839T>C (p.Ile280Thr)	SNX13 (I200T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535016	NM_015132.5(SNX13):c.1098T>G (p.Phe366Leu)	SNX13 (F163L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527159	NM_015132.5(SNX13):c.1757A>T (p.His586Leu)	SNX13 (H383L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509151	NM_015132.5(SNX13):c.2576G>A (p.Arg859Gln)	SNX13 (R656Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484441	NM_015132.5(SNX13):c.766C>G (p.Arg256Gly)	SNX13 (R154G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401644	NM_015132.5(SNX13):c.882T>G (p.Ile294Met)	SNX13 (I91M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385369	NM_015132.5(SNX13):c.2840A>C (p.Gln947Pro)	SNX13 (Q845P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370027	NM_015132.5(SNX13):c.1460G>A (p.Arg487Lys)	SNX13 (R385K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358251	NM_015132.5(SNX13):c.2119G>T (p.Val707Phe)	SNX13 (V605F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329037	NM_015132.5(SNX13):c.1798C>T (p.Arg600Cys)	SNX13 (R498C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326150	NM_015132.5(SNX13):c.64A>G (p.Ile22Val)	SNX13 (I22V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2318359	NM_015132.5(SNX13):c.218G>A (p.Gly73Glu)	SNX13 (G73E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300526	NM_015132.5(SNX13):c.2817G>A (p.Met939Ile)	SNX13 (M736I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300525	NM_015132.5(SNX13):c.1412C>G (p.Thr471Ser)	SNX13 (T268S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295947	NM_015132.5(SNX13):c.2293G>A (p.Asp765Asn)	SNX13 (D776N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290377	NM_015132.5(SNX13):c.2776C>T (p.Arg926Cys)	SNX13 (R824C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246994	NM_015132.5(SNX13):c.653A>G (p.Lys218Arg)	SNX13 (K138R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246110	NM_015132.5(SNX13):c.2240T>C (p.Ile747Thr)	SNX13 (I758T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245198	NM_015132.5(SNX13):c.163T>A (p.Ser55Thr)	SNX13 (S55T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217030	NM_015132.5(SNX13):c.523G>A (p.Ala175Thr)	SNX13 (A95T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2214162	NM_015132.5(SNX13):c.1453A>G (p.Ile485Val)	SNX13 (I383V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204689	NM_015132.5(SNX13):c.2572A>T (p.Ile858Phe)	SNX13 (I655F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809177	GRCh37/hg19 7p21.1(chr7:17949967-18038802)x1	SNX13	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 1340615	GRCh37/hg19 7p21.1(chr7:16875368-17889980)x3	AGR3, AHR +1 more	Copy number gain	not provided	GLikely benign
Select item 1340485	GRCh37/hg19 7p21.1(chr7:17599154-17910205)x3	SNX13	Copy number gain	not provided	GUncertain significance
Select item 981203	GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1	AGMO, AGR2 +19 more	Copy number loss	Saethre-Chotzen syndrome	GPathogenic
Select item 980247	GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)x1	SOSTDC1, AGR2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 979767	GRCh37/hg19 7p21.1(chr7:17415894-17871970)x3	SNX13	Copy number gain	not provided	GUncertain significance
Select item 979766	GRCh37/hg19 7p21.1(chr7:17865965-18361645)x3	PRPS1L1, SNX13 +1 more	Copy number gain	not provided	GLikely benign
Select item 814945	GRCh37/hg19 7p21.1(chr7:17223382-17966152)x3	SNX13, AHR	Copy number gain	not provided	GUncertain significance
Select item 814944	GRCh37/hg19 7p21.1(chr7:16847800-17922888)x3	AHR, AGR3 +1 more	Copy number gain	not provided	GLikely benign
Select item 814934	GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1	MEOX2, PRPS1L1 +19 more	Copy number loss	not provided	GPathogenic
Select item 790733	NM_015132.5(SNX13):c.440+10C>T	SNX13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 711982	NM_015132.5(SNX13):c.1254A>G (p.Glu418=)	SNX13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 687515	GRCh37/hg19 7p21.1(chr7:17151747-18869529)x3	AHR, HDAC9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 563419	GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3	AGR3, TSPAN13 +23 more	Copy number gain	not provided	GPathogenic
Select item 563393	GRCh37/hg19 7p21.1(chr7:17008842-18304130)x3	HDAC9, SNX13 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443707	GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1	AGMO, AGR2 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 443103	GRCh37/hg19 7p21.1(chr7:17219770-17966152)x3	AHR, SNX13	Copy number gain	See cases	GUncertain significance
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442332	GRCh37/hg19 7p21.1(chr7:17223340-17966152)x3	AHR, SNX13	Copy number gain	See cases	GUncertain significance
Select item 442161	GRCh37/hg19 7p21.1(chr7:17223382-17966152)x3	AHR, SNX13	Copy number gain	See cases	GUncertain significance
Select item 441665	GRCh37/hg19 7p21.1(chr7:17099056-18220736)x3	AHR, HDAC9 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 403464	NM_015132.5(SNX13):c.1954-22_1954-21dup	SNX13	Duplication (intron variant)	not specified	GBenign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 394773	GRCh37/hg19 7p21.1(chr7:17867253-17987027)x1	SNX13	Copy number loss	See cases	GLikely benign
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 152081	GRCh38/hg38 7p21.1(chr7:17847049-18321295)x3	HDAC9, LOC111591502 +8 more	Copy number gain	See cases	GBenign
Select item 149095	GRCh38/hg38 7p21.1(chr7:17198359-17893255)x3	AHR, LINC02888 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148160	GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1	AGR2, AGR3 +84 more	Copy number loss	See cases	GPathogenic
Select item 147798	GRCh38/hg38 7p21.1(chr7:17214494-17893255)x3	AHR, LINC02888 +13 more	Copy number gain	See cases	GUncertain significance

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