SLC18B1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 59545	GRCh38/hg38 6q23.2(chr6:132455272-133141153)x3	LINC00326, LOC123864071 +34 more	Copy number gain	See cases	GUncertain significance
Select item 3319012	NM_052831.3(SLC18B1):c.1348A>G (p.Thr450Ala)	SLC18B1 (T450A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163241	NM_052831.3(SLC18B1):c.1331C>T (p.Thr444Ile)	SLC18B1 (T444I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570410	NM_052831.3(SLC18B1):c.1261G>A (p.Ala421Thr)	SLC18B1 (A421T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656919	NM_052831.3(SLC18B1):c.1230A>G (p.Ile410Met)	SLC18B1 (I410M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2220292	NM_052831.3(SLC18B1):c.1195T>C (p.Tyr399His)	SLC18B1 (Y399H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319009	NM_052831.3(SLC18B1):c.1181T>C (p.Leu394Pro)	SLC18B1 (L394P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517005	NM_052831.3(SLC18B1):c.1159G>A (p.Gly387Ser)	SLC18B1 (G387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163239	NM_052831.3(SLC18B1):c.1147A>G (p.Met383Val)	SLC18B1 (M383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314178	NM_052831.3(SLC18B1):c.1057A>G (p.Thr353Ala)	SLC18B1 (T353A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3319010	NM_052831.3(SLC18B1):c.1045A>T (p.Ser349Cys)	SLC18B1 (S349C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267279	NM_052831.3(SLC18B1):c.938C>T (p.Thr313Ile)	SLC18B1 (T313I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355483	NM_052831.3(SLC18B1):c.856A>C (p.Ile286Leu)	SLC18B1 (I286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600971	NM_052831.3(SLC18B1):c.801T>A (p.Asn267Lys)	SLC18B1 (N267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525785	NM_052831.3(SLC18B1):c.770C>T (p.Thr257Ile)	SLC18B1 (T257I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233559	NM_052831.3(SLC18B1):c.746C>T (p.Ser249Leu)	SLC18B1 (S249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460795	NM_052831.3(SLC18B1):c.719T>C (p.Ile240Thr)	SLC18B1 (I240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346201	NM_052831.3(SLC18B1):c.654T>A (p.Asn218Lys)	SLC18B1 (N218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319013	NM_052831.3(SLC18B1):c.611T>C (p.Val204Ala)	SLC18B1 (V204A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163245	NM_052831.3(SLC18B1):c.572C>T (p.Ser191Phe)	SLC18B1 (S191F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530534	NM_052831.3(SLC18B1):c.488T>C (p.Val163Ala)	SLC18B1 (V163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523807	NM_052831.3(SLC18B1):c.487G>C (p.Val163Leu)	SLC18B1 (V163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224466	NM_052831.3(SLC18B1):c.472G>C (p.Ala158Pro)	SLC18B1 (A158P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163244	NM_052831.3(SLC18B1):c.379C>T (p.Pro127Ser)	SLC18B1 (P127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529403	NM_052831.3(SLC18B1):c.300A>C (p.Lys100Asn)	SLC18B1 (K100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319011	NM_052831.3(SLC18B1):c.229G>A (p.Gly77Arg)	SLC18B1 (G77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163243	NM_052831.3(SLC18B1):c.217G>A (p.Gly73Ser)	SLC18B1 (G73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356867	NM_052831.3(SLC18B1):c.212T>A (p.Ile71Asn)	SLC18B1 (I71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483000	NM_052831.3(SLC18B1):c.98A>G (p.Gln33Arg)	SLC18B1 (Q33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163246	NM_052831.3(SLC18B1):c.79G>C (p.Gly27Arg)	SLC18B1 (G27R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163242	NM_052831.3(SLC18B1):c.18C>A (p.Asp6Glu)	SLC18B1 (D6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062914	GRCh37/hg19 6q23.2(chr6:132926526-133319409)x3	RPS12, SLC18B1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2684456	GRCh37/hg19 6q23.2(chr6:132926527-133319409)x3	RPS12, SLC18B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 1340562	GRCh37/hg19 6q23.2(chr6:132875123-133509642)x3	RPS12, SLC18B1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688723	GRCh37/hg19 6q23.2(chr6:132926920-133314722)x3	RPS12, SLC18B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 47