ClinVar for Gene (Select 6570) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319002	NM_003053.4(SLC18A1):c.665A>C (p.Asp222Ala)	SLC18A1 (D222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319001	NM_003053.4(SLC18A1):c.103A>G (p.Asn35Asp)	SLC18A1 (N35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319000	NM_003053.4(SLC18A1):c.914C>T (p.Ala305Val)	LOC126860318, SLC18A1 (A305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318999	NM_003053.4(SLC18A1):c.463C>A (p.Pro155Thr)	SLC18A1 (P155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318998	NM_003053.4(SLC18A1):c.485A>G (p.Asn162Ser)	SLC18A1 (N162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245557	NC_000008.10:g.(?_19362692)_(20112692_?)del	ATP6V1B2, CSGALNACT1 +4 more	Deletion	not provided	GPathogenic
Select item 3245556	NC_000008.10:g.(?_17915043)_(20112692_?)del	ASAH1-AS1, ATP6V1B2 +10 more	Deletion	not provided	GPathogenic
Select item 3163227	NM_003053.4(SLC18A1):c.832C>G (p.Leu278Val)	SLC18A1 (L278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163226	NM_003053.4(SLC18A1):c.553G>C (p.Ala185Pro)	SLC18A1 (A185P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163225	NM_003053.4(SLC18A1):c.538T>A (p.Ser180Thr)	SLC18A1 (S180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163224	NM_003053.4(SLC18A1):c.486C>A (p.Asn162Lys)	SLC18A1 (N162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163222	NM_003053.4(SLC18A1):c.469G>A (p.Val157Met)	SLC18A1 (V157M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163221	NM_003053.4(SLC18A1):c.396G>C (p.Leu132Phe)	SLC18A1 (L132F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163219	NM_003053.4(SLC18A1):c.190G>A (p.Gly64Ser)	SLC18A1 (G64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163218	NM_003053.4(SLC18A1):c.1471C>T (p.Leu491=)	SLC18A1 (S446F)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3163217	NM_003053.4(SLC18A1):c.1439G>A (p.Ser480Asn)	SLC18A1 (S480N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163216	NM_003053.4(SLC18A1):c.1405A>T (p.Ile469Phe)	SLC18A1 (I437F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163215	NM_003053.4(SLC18A1):c.1345G>T (p.Gly449Cys)	SLC18A1 (G449C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163214	NM_003053.4(SLC18A1):c.1297G>A (p.Ala433Thr)	SLC18A1 (A401T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163213	NM_003053.4(SLC18A1):c.1234C>A (p.Pro412Thr)	SLC18A1 (P380T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685304	GRCh37/hg19 8p21.3(chr8:19323985-20513166)x1	SLC18A1, ATP6V1B2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2622339	NM_003053.4(SLC18A1):c.841T>A (p.Ser281Thr)	SLC18A1 (S281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607477	NM_003053.4(SLC18A1):c.839C>A (p.Pro280His)	SLC18A1 (P280H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602750	NM_003053.4(SLC18A1):c.1168T>C (p.Phe390Leu)	SLC18A1 (F358L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596554	NM_003053.4(SLC18A1):c.742A>G (p.Ser248Gly)	SLC18A1 (S248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2568701	NM_003053.4(SLC18A1):c.923C>T (p.Ser308Phe)	LOC126860318, SLC18A1 (S308F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550045	NM_003053.4(SLC18A1):c.1367G>T (p.Gly456Val)	SLC18A1 (G424V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549130	NM_003053.4(SLC18A1):c.1445C>T (p.Pro482Leu)	SLC18A1 (P482L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545644	NM_003053.4(SLC18A1):c.526A>T (p.Ile176Phe)	SLC18A1 (I176F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511061	NM_003053.4(SLC18A1):c.1012C>G (p.Leu338Val)	LOC126860318, SLC18A1 (L338V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493108	NM_003053.4(SLC18A1):c.1195C>G (p.Leu399Val)	SLC18A1 (L367V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492650	NM_003053.4(SLC18A1):c.385A>C (p.Thr129Pro)	SLC18A1 (T129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489040	NM_003053.4(SLC18A1):c.1496C>A (p.Thr499Asn)	SLC18A1 (D454E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472485	NM_003053.4(SLC18A1):c.245T>G (p.Phe82Cys)	SLC18A1 (F82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470853	NM_003053.4(SLC18A1):c.268G>A (p.Val90Met)	SLC18A1 (V90M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463137	NM_003053.4(SLC18A1):c.88G>A (p.Ala30Thr)	SLC18A1 (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455491	NM_003053.4(SLC18A1):c.1412A>G (p.Tyr471Cys)	SLC18A1 (Y471C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445493	NC_000008.10:g.(?_17915043)_(20112692_?)dup	ASAH1, ASAH1-AS1 +10 more	Duplication	not provided	GUncertain significance
Select item 2408251	NM_003053.4(SLC18A1):c.505C>T (p.Pro169Ser)	SLC18A1 (P169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381342	NM_003053.4(SLC18A1):c.605T>C (p.Ile202Thr)	SLC18A1 (I202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380055	NM_003053.4(SLC18A1):c.685A>G (p.Met229Val)	SLC18A1 (M229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372330	NM_003053.4(SLC18A1):c.1355T>G (p.Val452Gly)	SLC18A1 (V420G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355488	NM_003053.4(SLC18A1):c.1261C>T (p.Arg421Cys)	SLC18A1 (R389C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341784	NM_003053.4(SLC18A1):c.1000C>A (p.Pro334Thr)	LOC126860318, SLC18A1 (P334T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328813	NM_003053.4(SLC18A1):c.451C>T (p.Leu151Phe)	SLC18A1 (L151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328342	NM_003053.4(SLC18A1):c.47G>C (p.Gly16Ala)	SLC18A1 (G16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328165	NM_003053.4(SLC18A1):c.446T>C (p.Met149Thr)	SLC18A1 (M149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303877	NM_003053.4(SLC18A1):c.868G>A (p.Gly290Arg)	LOC126860318, SLC18A1 (G290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303223	NM_003053.4(SLC18A1):c.462C>A (p.Asn154Lys)	SLC18A1 (N154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298665	NM_003053.4(SLC18A1):c.52G>A (p.Ala18Thr)	SLC18A1 (A18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280132	NM_003053.4(SLC18A1):c.1559A>G (p.Glu520Gly)	SLC18A1 (E488G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256803	NM_003053.4(SLC18A1):c.55T>C (p.Ser19Pro)	SLC18A1 (S19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255988	NM_003053.4(SLC18A1):c.1294A>G (p.Ile432Val)	SLC18A1 (I400V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245362	NM_003053.4(SLC18A1):c.664G>A (p.Asp222Asn)	SLC18A1 (D222N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236386	NM_003053.4(SLC18A1):c.220G>A (p.Ala74Thr)	SLC18A1 (A74T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228297	NM_003053.4(SLC18A1):c.1079C>G (p.Ala360Gly)	SLC18A1 (A328G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205530	NM_003053.4(SLC18A1):c.1093C>T (p.Arg365Trp)	SLC18A1 (R333W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809141	GRCh37/hg19 8p21.3(chr8:19734916-20137818)x3	ATP6V1B2, LPL +2 more	Copy number gain	not provided	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1377072	NC_000008.10:g.(?_16850399)_(20112692_?)dup	ASAH1, ASAH1-AS1 +21 more	Duplication	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 689329	GRCh37/hg19 8p21.3(chr8:19731374-20266121)x3	ATP6V1B2, LPL +2 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687098	GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1	ATP6V1B2, CSGALNACT1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 686096	GRCh37/hg19 8p21.3(chr8:19604406-20174467)x1	ATP6V1B2, INTS10 +3 more	Copy number loss	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563511	GRCh37/hg19 8p21.3(chr8:19686384-20484203)x3	LZTS1, LPL +3 more	Copy number gain	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443345	GRCh37/hg19 8p21.3(chr8:19898987-20816188)x3	ATP6V1B2, LZTS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic

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