SNX33[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 58080	GRCh38/hg38 15q24.2(chr15:75336215-75658670)x3	COMMD4, IMP3 +29 more	Copy number gain	See cases	GPathogenic
Select item 59384	GRCh38/hg38 15q24.2(chr15:75596961-76049787)x1	CIMAP1C, CSPG4 +22 more	Copy number loss	See cases	GPathogenic
Select item 2488120	NM_153271.2(SNX33):c.17G>A (p.Arg6Gln)	SNX33 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645567	NM_153271.2(SNX33):c.33T>C (p.Phe11=)	SNX33	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455578	NM_153271.2(SNX33):c.175G>A (p.Val59Ile)	SNX33 (V59I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321325	NM_153271.2(SNX33):c.229T>A (p.Ser77Thr)	SNX33 (S77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321326	NM_153271.2(SNX33):c.230C>T (p.Ser77Phe)	SNX33 (S77F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253694	NM_153271.2(SNX33):c.239C>T (p.Ala80Val)	SNX33 (A80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321329	NM_153271.2(SNX33):c.274A>C (p.Ser92Arg)	SNX33 (S92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456654	NM_153271.2(SNX33):c.299G>A (p.Ser100Asn)	SNX33 (S100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494948	NM_153271.2(SNX33):c.319G>C (p.Gly107Arg)	SNX33 (G107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373059	NM_153271.2(SNX33):c.336T>G (p.Asp112Glu)	SNX33 (D112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412188	NM_153271.2(SNX33):c.344A>G (p.Asp115Gly)	SNX33 (D115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410519	NM_153271.2(SNX33):c.382G>A (p.Glu128Lys)	SNX33 (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264013	NM_153271.2(SNX33):c.391C>T (p.Arg131Trp)	SNX33 (R131W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314579	NM_153271.2(SNX33):c.400G>A (p.Gly134Arg)	SNX33 (G134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257506	NM_153271.2(SNX33):c.446G>C (p.Gly149Ala)	SNX33 (G149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485507	NM_153271.2(SNX33):c.475C>T (p.Arg159Trp)	SNX33 (R159W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167312	NM_153271.2(SNX33):c.479C>T (p.Pro160Leu)	SNX33 (P160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167313	NM_153271.2(SNX33):c.500A>G (p.Gln167Arg)	SNX33 (Q167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351924	NM_153271.2(SNX33):c.624C>G (p.Ile208Met)	SNX33 (I208M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321327	NM_153271.2(SNX33):c.758A>G (p.Lys253Arg)	SNX33 (K253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383828	NM_153271.2(SNX33):c.883A>G (p.Thr295Ala)	SNX33 (T295A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211201	NM_153271.2(SNX33):c.1006C>G (p.Leu336Val)	SNX33 (L336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167308	NM_153271.2(SNX33):c.1063G>A (p.Gly355Ser)	SNX33 (G355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550303	NM_153271.2(SNX33):c.1147G>T (p.Ala383Ser)	SNX33 (A383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321328	NM_153271.2(SNX33):c.1153A>G (p.Ser385Gly)	SNX33 (S385G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291114	NM_153271.2(SNX33):c.1174G>A (p.Val392Ile)	SNX33 (V392I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392856	NM_153271.2(SNX33):c.1231C>T (p.Arg411Cys)	SNX33 (R411C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167309	NM_153271.2(SNX33):c.1333C>T (p.His445Tyr)	SNX33 (H445Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621471	NM_153271.2(SNX33):c.1337C>T (p.Thr446Met)	SNX33 (T446M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167310	NM_153271.2(SNX33):c.1342C>T (p.Arg448Cys)	SNX33 (R448C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255029	NM_153271.2(SNX33):c.1343G>A (p.Arg448His)	SNX33 (R448H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167311	NM_153271.2(SNX33):c.1550G>A (p.Arg517His)	SNX33 (R443H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205173	NM_153271.2(SNX33):c.1564G>T (p.Val522Leu)	SNX33 (V448L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329608	NM_153271.2(SNX33):c.1610G>A (p.Arg537His)	SNX33 (R463H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259404	NM_153271.2(SNX33):c.1651C>G (p.Arg551Gly)	SNX33 (R477G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 2685524	GRCh37/hg19 15q24.2(chr15:75601120-76081362)x1	CIMAP1C, COMMD4 +8 more	Copy number loss	not provided	GPathogenic
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2426847	NC_000015.9:g.(?_75628431)_(76054677_?)del	CIMAP1C, COMMD4 +8 more	Deletion	not provided	GUncertain significance
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 997817	Single allele	CIMAP1C, COMMD4 +8 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 980534	GRCh37/hg19 15q24.2-24.3(chr15:75920400-76632051)x3	TMEM266, CSPG4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 980533	GRCh37/hg19 15q24.2(chr15:75440382-76133553)x3	SNX33, GOLGA6C +11 more	Copy number gain	not provided	GUncertain significance
Select item 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 687789	GRCh37/hg19 15q24.2(chr15:75508057-76128091)x3	COMMD4, CSPG4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 625749	GRCh37/hg19 15q24.2(chr15:75648132-76102251)	CSPG4, IMP3 +6 more	Copy number loss	not provided	GPathogenic
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560141	Single allele	COMMD4, CSPG4 +8 more	Duplication	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253861	GRCh37/hg19 15q24.2(chr15:75562397-76030552)x3	COMMD4, SNUPN +10 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 73