SLC18A2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 217

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 154913	GRCh38/hg38 10q25.3-26.11(chr10:117205385-118509587)x3	CASC2, EMX2 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1239147	NM_003054.6(SLC18A2):c.-16+224G>A	SLC18A2, SLC18A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227431	NM_003054.6(SLC18A2):c.-15-39A>C	SLC18A2, SLC18A2-AS1	Single nucleotide variant (intron variant)	Brain dopamine-serotonin vesicular transport disease +1 more	GBenign
Select item 741569	NM_003054.6(SLC18A2):c.9G>A (p.Leu3=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438268	NM_003054.6(SLC18A2):c.13G>A (p.Glu5Lys)	SLC18A2, SLC18A2-AS1 (E5K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180259	NM_003054.6(SLC18A2):c.20C>T (p.Ala7Val)	SLC18A2, SLC18A2-AS1 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747914	NM_003054.6(SLC18A2):c.27C>T (p.Val9=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475093	NM_003054.6(SLC18A2):c.28C>G (p.Arg10Gly)	SLC18A2, SLC18A2-AS1 (R10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310746	NM_003054.6(SLC18A2):c.33G>A (p.Trp11Ter)	SLC18A2, SLC18A2-AS1 (W11*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2793810	NM_003054.6(SLC18A2):c.46_55del (p.Arg16fs)	SLC18A2, SLC18A2-AS1 (R16fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1362450	NM_003054.6(SLC18A2):c.45C>A (p.Ser15Arg)	SLC18A2, SLC18A2-AS1 (S15R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2058367	NM_003054.6(SLC18A2):c.49C>T (p.Arg17Cys)	SLC18A2, SLC18A2-AS1 (R17C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3000711	NM_003054.6(SLC18A2):c.51C>G (p.Arg17=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1965587	NM_003054.6(SLC18A2):c.81C>T (p.Phe27=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1921726	NM_003054.6(SLC18A2):c.93G>A (p.Leu31=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443416	NM_003054.6(SLC18A2):c.98A>C (p.Asp33Ala)	SLC18A2, SLC18A2-AS1 (D33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051409	NM_003054.6(SLC18A2):c.107T>C (p.Leu36Pro)	SLC18A2, SLC18A2-AS1 (L36P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743190	NM_003054.6(SLC18A2):c.111C>T (p.Leu37=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903427	NM_003054.6(SLC18A2):c.117C>A (p.Val39=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642943	NM_003054.6(SLC18A2):c.121+13A>G	SLC18A2, SLC18A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258075	NM_003054.6(SLC18A2):c.122-174C>G	SLC18A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1950400	NM_003054.6(SLC18A2):c.122-19A>T	SLC18A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742989	NM_003054.6(SLC18A2):c.147C>T (p.Tyr49=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3364329	NM_003054.6(SLC18A2):c.167_168del (p.Asn56fs)	SLC18A2 (N56fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1600113	NM_003054.6(SLC18A2):c.185C>T (p.Thr62Met)	SLC18A2 (T62M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1575177	NM_003054.6(SLC18A2):c.186G>A (p.Thr62=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598816	NM_003054.6(SLC18A2):c.203_204delinsTG (p.Thr68Met)	SLC18A2 (T68M)	Indel (missense variant)	not provided	GBenign
Select item 717979	NM_003054.6(SLC18A2):c.203C>T (p.Thr68Ile)	SLC18A2 (T68I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1170119	NM_003054.6(SLC18A2):c.204T>G (p.Thr68=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1919082	NM_003054.6(SLC18A2):c.216dup (p.Asp73fs)	SLC18A2 (D73fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2664950	NM_003054.6(SLC18A2):c.240_244del (p.Ser80_Tyr81insTer)	SLC18A2	Deletion (frameshift variant)	Brain dopamine-serotonin vesicular transport disease	GPathogenic
Select item 791308	NM_003054.6(SLC18A2):c.255G>A (p.Ser85=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1428266	NM_003054.6(SLC18A2):c.259A>G (p.Met87Val)	SLC18A2 (M87V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749230	NM_003054.6(SLC18A2):c.279C>T (p.Thr93=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1611319	NM_003054.6(SLC18A2):c.291A>G (p.Thr97=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434543	NM_003054.6(SLC18A2):c.301A>G (p.Thr101Ala)	SLC18A2 (T101A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1623043	NM_003054.6(SLC18A2):c.303C>T (p.Thr101=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108336	NM_003054.6(SLC18A2):c.310C>G (p.Gln104Glu)	SLC18A2 (Q104E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012147	NM_003054.6(SLC18A2):c.316A>G (p.Met106Val)	SLC18A2 (M106V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984015	NM_003054.6(SLC18A2):c.329C>T (p.Ala110Val)	SLC18A2 (A110V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593430	NM_003054.6(SLC18A2):c.345C>T (p.Ser115=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963772	NM_003054.6(SLC18A2):c.346G>A (p.Asp116Asn)	SLC18A2 (D116N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863153	NM_003054.6(SLC18A2):c.351T>C (p.Cys117=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942953	NM_003054.6(SLC18A2):c.353C>T (p.Pro118Leu)	SLC18A2 (P118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2465496	NM_003054.6(SLC18A2):c.367G>C (p.Asp123His)	SLC18A2 (D123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2889141	NM_003054.6(SLC18A2):c.384C>T (p.Asn128=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929707	NM_003054.6(SLC18A2):c.419C>T (p.Thr140Ile)	SLC18A2 (T140I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711825	NM_003054.6(SLC18A2):c.423C>T (p.Val141=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363175	NM_003054.6(SLC18A2):c.424C>T (p.Gln142Ter)	SLC18A2 (Q142*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2038986	NM_003054.6(SLC18A2):c.434C>A (p.Thr145Asn)	SLC18A2 (T145N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163230	NM_003054.6(SLC18A2):c.446T>C (p.Ile149Thr)	SLC18A2 (I149T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2443677	NM_003054.6(SLC18A2):c.448G>A (p.Gly150Arg)	SLC18A2 (G150R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107135	NM_003054.6(SLC18A2):c.448G>C (p.Gly150Arg)	SLC18A2 (G150R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777315	NM_003054.6(SLC18A2):c.464+14C>G	SLC18A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1308777	NM_003054.6(SLC18A2):c.482C>G (p.Pro161Arg)	SLC18A2 (P161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140222	NM_003054.6(SLC18A2):c.491C>T (p.Ala164Val)	SLC18A2 (A164V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1221676	NM_003054.6(SLC18A2):c.523+112del	SLC18A2	Deletion (intron variant)	not provided	GBenign
Select item 1283706	NM_003054.6(SLC18A2):c.524-65T>C	SLC18A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2893163	NM_003054.6(SLC18A2):c.524-6C>T	SLC18A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014328	NM_003054.6(SLC18A2):c.570G>A (p.Ser190=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416212	NM_003054.6(SLC18A2):c.582C>T (p.Ile194=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901805	NM_003054.6(SLC18A2):c.588G>A (p.Ser196=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689997	NM_003054.6(SLC18A2):c.590C>T (p.Ser197Phe)	SLC18A2 (S197F)	Single nucleotide variant (missense variant)	Brain dopamine-serotonin vesicular transport disease	GUncertain significance
Select item 1168452	NM_003054.6(SLC18A2):c.597C>T (p.Ser199=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2060871	NM_003054.6(SLC18A2):c.605del (p.Ala202fs)	SLC18A2 (A202fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1919225	NM_003054.6(SLC18A2):c.608-18A>G	SLC18A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2135082	NM_003054.6(SLC18A2):c.625A>G (p.Ser209Gly)	SLC18A2 (S209G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970445	NM_003054.6(SLC18A2):c.626G>C (p.Ser209Thr)	SLC18A2 (S209T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724428	NM_003054.6(SLC18A2):c.639T>C (p.Asp213=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751532	NM_003054.6(SLC18A2):c.657C>T (p.Asn219=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721342	NM_003054.6(SLC18A2):c.669C>T (p.Ile223=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510125	NM_003054.6(SLC18A2):c.670G>A (p.Ala224Thr)	SLC18A2 (A224T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997348	NM_003054.6(SLC18A2):c.675G>A (p.Leu225=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3163231	NM_003054.6(SLC18A2):c.686C>A (p.Ala229Asp)	SLC18A2 (A229D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745726	NM_003054.6(SLC18A2):c.688A>T (p.Met230Leu)	SLC18A2 (M230L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1547959	NM_003054.6(SLC18A2):c.700+10del	SLC18A2	Deletion (intron variant)	not provided	GLikely benign
Select item 1648175	NM_003054.6(SLC18A2):c.700+11C>A	SLC18A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781336	NM_003054.6(SLC18A2):c.700+12C>T	SLC18A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165075	NM_003054.6(SLC18A2):c.700+15C>T	SLC18A2	Single nucleotide variant (intron variant)	Brain dopamine-serotonin vesicular transport disease +1 more	GBenign
Select item 1257069	NM_003054.6(SLC18A2):c.700+119T>A	SLC18A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260423	NM_003054.6(SLC18A2):c.700+180G>A	SLC18A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286755	NM_003054.6(SLC18A2):c.701-93T>C	SLC18A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1478698	NM_003054.6(SLC18A2):c.701-7C>A	SLC18A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1925489	NM_003054.6(SLC18A2):c.705C>T (p.Gly235=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 402145	NM_003054.6(SLC18A2):c.711del (p.Phe238fs)	SLC18A2 (F238fs)	Deletion (frameshift variant)	Abnormal brain morphology	GLikely pathogenic
Select item 666409	NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)	SLC18A2 (P237H)	Single nucleotide variant (missense variant)	Brain dopamine-serotonin vesicular transport disease +1 more	GConflicting classifications of pathogenicity
Select item 1546171	NM_003054.6(SLC18A2):c.711C>A (p.Pro237=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187264	NM_003054.6(SLC18A2):c.714C>T (p.Phe238=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414881	NM_003054.6(SLC18A2):c.730G>A (p.Glu244Lys)	SLC18A2 (E244K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739298	NM_003054.6(SLC18A2):c.732G>A (p.Glu244=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806332	NM_003054.6(SLC18A2):c.768C>G (p.Ala256=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722394	NM_003054.6(SLC18A2):c.768C>T (p.Ala256=)	SLC18A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1491929	NM_003054.6(SLC18A2):c.769G>A (p.Ala257Thr)	SLC18A2 (A257T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2363688	NM_003054.6(SLC18A2):c.778C>G (p.Leu260Val)	SLC18A2 (L260V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 3