SLC6A18[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 more	Copy number loss	See cases	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154579	GRCh38/hg38 5p15.33(chr5:22149-1659135)x3	LOC132089296, LOC132089297 +139 more	Copy number gain	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
Select item 150451	GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	AHRR, BRD9 +172 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	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147750	GRCh38/hg38 5p15.33(chr5:22149-1429599)x1	AHRR, BRD9 +127 more	Copy number loss	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	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 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 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 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 57221	GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	AHRR, BRD9 +190 more	Copy number loss	See cases	GPathogenic
Select item 57057	GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	AHRR, BRD9 +150 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	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 57400	GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	AHRR, BRD9 +196 more	Copy number loss	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	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 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	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 148722	GRCh38/hg38 5p15.33(chr5:821764-1271935)x3	BRD9, LINC02982 +17 more	Copy number gain	See cases	GLikely benign
Select item 146682	GRCh38/hg38 5p15.33(chr5:924086-1544344)x3	CLPTM1L, LINC01511 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150830	GRCh38/hg38 5p15.33(chr5:965217-1528677)x3	CLPTM1L, LINC01511 +33 more	Copy number gain	See cases	GLikely benign
Select item 146059	GRCh38/hg38 5p15.33(chr5:1085824-1315406)x3	LOC110806263, LOC110806264 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2330313	NM_182632.3(SLC6A18):c.32C>T (p.Ala11Val)	SLC6A18 (A11V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409099	NM_182632.3(SLC6A18):c.55C>T (p.Pro19Ser)	SLC6A18 (P19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407944	NM_182632.3(SLC6A18):c.127C>T (p.Arg43Trp)	SLC6A18 (R43W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274979	NM_182632.3(SLC6A18):c.142T>C (p.Cys48Arg)	SLC6A18 (C48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165430	NM_182632.3(SLC6A18):c.181G>A (p.Val61Ile)	SLC6A18 (V61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252452	NM_182632.3(SLC6A18):c.199G>A (p.Glu67Lys)	SLC6A18 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165432	NM_182632.3(SLC6A18):c.220G>A (p.Val74Ile)	SLC6A18 (V74I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591946	NM_182632.3(SLC6A18):c.247C>T (p.Arg83Trp)	SLC6A18 (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165433	NM_182632.3(SLC6A18):c.265G>A (p.Val89Met)	SLC6A18 (V89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481621	NM_182632.3(SLC6A18):c.271A>T (p.Thr91Ser)	SLC6A18 (T91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791254	NM_182632.3(SLC6A18):c.272C>T (p.Thr91Met)	SLC6A18 (T91M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2389973	NM_182632.3(SLC6A18):c.302G>C (p.Gly101Ala)	SLC6A18 (G101A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165434	NM_182632.3(SLC6A18):c.338T>A (p.Leu113Gln)	SLC6A18 (L113Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372375	NM_182632.3(SLC6A18):c.424G>A (p.Asp142Asn)	SLC6A18 (D142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165435	NM_182632.3(SLC6A18):c.440G>A (p.Gly147Glu)	SLC6A18 (G147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779239	NM_182632.3(SLC6A18):c.471C>T (p.Ala157=)	SLC6A18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165436	NM_182632.3(SLC6A18):c.472G>A (p.Val158Met)	SLC6A18 (V158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459154	NM_182632.3(SLC6A18):c.490C>T (p.Arg164Trp)	SLC6A18 (R164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405468	NM_182632.3(SLC6A18):c.505A>T (p.Ile169Phe)	SLC6A18 (I169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543292	NM_182632.3(SLC6A18):c.535A>G (p.Ile179Val)	SLC6A18 (I179V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369519	NM_182632.3(SLC6A18):c.580G>A (p.Val194Met)	SLC6A18 (V194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655271	NM_182632.3(SLC6A18):c.588G>A (p.Met196Ile)	SLC6A18 (M196I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715978	NM_182632.3(SLC6A18):c.672C>T (p.Leu224=)	SLC6A18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2352554	NM_182632.3(SLC6A18):c.754C>T (p.Arg252Trp)	SLC6A18 (R252W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398153	NM_182632.3(SLC6A18):c.755G>A (p.Arg252Gln)	SLC6A18 (R252Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496573	NM_182632.3(SLC6A18):c.769G>A (p.Ala257Thr)	SLC6A18 (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165437	NM_182632.3(SLC6A18):c.776C>A (p.Thr259Asn)	SLC6A18 (T259N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786525	NM_182632.3(SLC6A18):c.825T>C (p.Phe275=)	SLC6A18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2212127	NM_182632.3(SLC6A18):c.830G>A (p.Ser277Asn)	SLC6A18 (S277N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773167	NM_182632.3(SLC6A18):c.839C>T (p.Ser280Leu)	SLC6A18 (S280L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2606265	NM_182632.3(SLC6A18):c.866C>T (p.Ala289Val)	SLC6A18 (A289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496485	NM_182632.3(SLC6A18):c.877G>A (p.Ala293Thr)	SLC6A18 (A293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165438	NM_182632.3(SLC6A18):c.907G>A (p.Ala303Thr)	SLC6A18 (A303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376711	NM_182632.3(SLC6A18):c.908C>T (p.Ala303Val)	SLC6A18 (A303V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771368	NM_182632.3(SLC6A18):c.949A>G (p.Asn317Asp)	SLC6A18 (N317D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2295252	NM_182632.3(SLC6A18):c.993C>G (p.Ile331Met)	SLC6A18 (I331M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523126	NM_182632.3(SLC6A18):c.1030G>A (p.Asp344Asn)	SLC6A18 (D344N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787535	NM_182632.3(SLC6A18):c.1032C>T (p.Asp344=)	SLC6A18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165420	NM_182632.3(SLC6A18):c.1061A>G (p.Asn354Ser)	SLC6A18 (N354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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