STX18[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 57825	GRCh38/hg38 4p16.3-16.2(chr4:4207414-5514441)x3	CYTL1, LINC01396 +38 more	Copy number gain	See cases	GUncertain significance
Select item 3450957	NM_016930.4(STX18):c.991G>C (p.Asp331His)	STX18 (D331H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376978	NM_016930.4(STX18):c.991G>A (p.Asp331Asn)	STX18 (D329N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171745	NM_016930.4(STX18):c.921A>C (p.Lys307Asn)	STX18 (K226N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450955	NM_016930.4(STX18):c.895A>T (p.Asn299Tyr)	STX18 (N218Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171744	NM_016930.4(STX18):c.858G>C (p.Gln286His)	STX18 (Q284H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450951	NM_016930.4(STX18):c.826C>A (p.Gln276Lys)	STX18 (Q195K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450956	NM_016930.4(STX18):c.772G>C (p.Gly258Arg)	STX18 (G177R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450954	NM_016930.4(STX18):c.748T>A (p.Phe250Ile)	STX18 (F169I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363112	NM_016930.4(STX18):c.729T>G (p.Ile243Met)	STX18 (I243M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171743	NM_016930.4(STX18):c.722G>A (p.Arg241Gln)	STX18 (R160Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171742	NM_016930.4(STX18):c.710A>T (p.Gln237Leu)	STX18 (Q156L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171741	NM_016930.4(STX18):c.703T>C (p.Phe235Leu)	STX18 (F154L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 2242172	NM_016930.4(STX18):c.685C>G (p.Pro229Ala)	STX18 (P148A +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2207861	NM_016930.4(STX18):c.617A>T (p.Lys206Ile)	STX18 (K206I +2 more)	Single nucleotide variant (nonsense +2 more)	not specified	GUncertain significance
Select item 2465912	NM_016930.4(STX18):c.608G>A (p.Arg203His)	STX18 (R203H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3450953	NM_016930.4(STX18):c.601G>A (p.Glu201Lys)	STX18 (E120K +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3171739	NM_016930.4(STX18):c.587A>G (p.Glu196Gly)	STX18 (E115G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390469	NM_016930.4(STX18):c.548C>G (p.Ser183Cys)	STX18 (S183C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323466	NM_016930.4(STX18):c.466C>G (p.Arg156Gly)	STX18 (R75G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222608	NM_016930.4(STX18):c.454C>G (p.Gln152Glu)	STX18 (Q152E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480268	NM_016930.4(STX18):c.409T>A (p.Phe137Ile)	STX18 (F137I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323465	NM_016930.4(STX18):c.400G>C (p.Val134Leu)	STX18 (V134L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272920	NM_016930.4(STX18):c.371C>A (p.Ser124Tyr)	STX18 (S124Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450959	NM_016930.4(STX18):c.254A>G (p.Tyr85Cys)	STX18 (Y4C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361125	NM_016930.4(STX18):c.244A>G (p.Met82Val)	STX18 (M82V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551244	NM_016930.4(STX18):c.214A>G (p.Lys72Glu)	STX18 (K72E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496530	NM_016930.4(STX18):c.175C>G (p.His59Asp)	STX18 (H59D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 145819	GRCh38/hg38 4p16.2(chr4:4533263-4671557)x1	SNORD162, LOC111519897 +5 more	Copy number loss	See cases	GLikely benign
Select item 3450958	NM_016930.4(STX18):c.154C>T (p.Arg52Trp)	STX18 (R52W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318612	NM_016930.4(STX18):c.152G>A (p.Ser51Asn)	STX18 (S51N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3450952	NM_016930.4(STX18):c.139G>A (p.Gly47Ser)	STX18 (G47S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171738	NM_016930.4(STX18):c.121C>T (p.Arg41Trp)	STX18 (R41W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2353484	NM_016930.4(STX18):c.104G>A (p.Arg35Gln)	STX18 (R35Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540491	NM_016930.4(STX18):c.96T>G (p.Asp32Glu)	STX18 (D32E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509034	NM_016930.4(STX18):c.70G>A (p.Gly24Arg)	STX18 (G24R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255347	NM_016930.4(STX18):c.53C>A (p.Thr18Lys)	STX18 (T18K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347214	NM_016930.4(STX18):c.43A>G (p.Thr15Ala)	LOC112942284, STX18 (T15A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3391844	GRCh37/hg19 4p16.3-15.32(chr4:68346-16744084)x3	ABLIM2, ACOX3 +132 more	Copy number gain	not provided	GPathogenic
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	CYTL1, DEFB131A +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ABLIM2, ACOX3 +132 more	Copy number loss	not provided	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic

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