SLC10A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC126861817, LOC126861818 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 148962	GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	LOC124946325, LOC124946326 +271 more	Copy number loss	See cases	GPathogenic
Select item 144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	BIVM, BIVM-ERCC5 +184 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 150092	GRCh38/hg38 13q32.3-33.2(chr13:101095590-105074548)x1	BIVM, BIVM-ERCC5 +40 more	Copy number loss	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 58282	GRCh38/hg38 13q33.1(chr13:102822081-103938370)x3	BIVM, BIVM-ERCC5 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 3045080	NM_000452.3(SLC10A2):c.*4dup	SLC10A2	Duplication (3 prime UTR variant)	SLC10A2-related disorder	GLikely benign
Select item 2870752	NM_000452.3(SLC10A2):c.1045T>C (p.Ter349Gln)	SLC10A2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2180066	NM_000452.3(SLC10A2):c.1039G>A (p.Glu347Lys)	SLC10A2 (E347K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593415	NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2718996	NM_000452.3(SLC10A2):c.1024G>A (p.Gly342Arg)	SLC10A2 (G342R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931048	NM_000452.3(SLC10A2):c.1020T>A (p.Asn340Lys)	SLC10A2 (N340K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722027	NM_000452.3(SLC10A2):c.1015G>A (p.Ala339Thr)	SLC10A2 (A339T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051010	NM_000452.3(SLC10A2):c.1011T>C (p.Tyr337=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906997	NM_000452.3(SLC10A2):c.1005G>A (p.Ser335=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 501693	NM_000452.3(SLC10A2):c.1005G>C (p.Ser335=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1978006	NM_000452.3(SLC10A2):c.1004C>T (p.Ser335Leu)	SLC10A2 (S335L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785159	NM_000452.3(SLC10A2):c.1002A>G (p.Ser334=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905626	NM_000452.3(SLC10A2):c.990G>A (p.Thr330=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3380166	NM_000452.3(SLC10A2):c.989C>T (p.Thr330Met)	SLC10A2 (T330M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795484	NM_000452.3(SLC10A2):c.982A>G (p.Asn328Asp)	SLC10A2 (N328D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009541	NM_000452.3(SLC10A2):c.979G>A (p.Glu327Lys)	SLC10A2 (E327K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018683	NM_000452.3(SLC10A2):c.968C>T (p.Pro323Leu)	SLC10A2 (P323L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2539870	NM_000452.3(SLC10A2):c.932A>G (p.Tyr311Cys)	SLC10A2 (Y311C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2147805	NM_000452.3(SLC10A2):c.925G>C (p.Val309Leu)	SLC10A2 (V309L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187380	NM_000452.3(SLC10A2):c.922T>A (p.Tyr308Asn)	SLC10A2 (Y308N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997784	NM_000452.3(SLC10A2):c.920-2A>G	SLC10A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2705012	NM_000452.3(SLC10A2):c.920-9_920-7del	SLC10A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2866002	NM_000452.3(SLC10A2):c.920-9G>T	SLC10A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973307	NM_000452.3(SLC10A2):c.920-23_920-20del	SLC10A2	Deletion (intron variant)	not provided	GLikely benign
Select item 1332970	NM_000452.3(SLC10A2):c.920-20G>A	SLC10A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3344307	NM_000452.3(SLC10A2):c.919+316G>C	SLC10A2	Single nucleotide variant (intron variant)	SLC10A2-related disorder	GUncertain significance
Select item 2076696	NM_000452.3(SLC10A2):c.917G>A (p.Gly306Glu)	SLC10A2 (G306E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500243	NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)	SLC10A2 (F304L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2206044	NM_000452.3(SLC10A2):c.907A>G (p.Ile303Val)	SLC10A2 (I303V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1912868	NM_000452.3(SLC10A2):c.904G>C (p.Ala302Pro)	SLC10A2 (A302P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594390	NM_000452.3(SLC10A2):c.904G>A (p.Ala302Thr)	SLC10A2 (A302T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200016	NM_000452.3(SLC10A2):c.903C>T (p.Ala301=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2427829	NM_000452.3(SLC10A2):c.898T>C (p.Phe300Leu)	SLC10A2 (F300L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975843	NM_000452.3(SLC10A2):c.894C>T (p.Leu298=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615535	NM_000452.3(SLC10A2):c.893T>C (p.Leu298Pro)	SLC10A2 (L298P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2082764	NM_000452.3(SLC10A2):c.892C>G (p.Leu298Val)	SLC10A2 (L298V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606634	NM_000452.3(SLC10A2):c.891G>C (p.Gln297His)	SLC10A2 (Q297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2856673	NM_000452.3(SLC10A2):c.890A>T (p.Gln297Leu)	SLC10A2 (Q297L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419264	NM_000452.3(SLC10A2):c.888C>G (p.Phe296Leu)	SLC10A2 (F296L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 782336	NM_000452.3(SLC10A2):c.886T>C (p.Phe296Leu)	SLC10A2 (F296L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2140416	NM_000452.3(SLC10A2):c.880A>G (p.Ser294Gly)	SLC10A2 (S294G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826068	NM_000452.3(SLC10A2):c.870G>T (p.Pro290=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 597941	NM_000452.3(SLC10A2):c.870G>A (p.Pro290=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2868651	NM_000452.3(SLC10A2):c.869C>G (p.Pro290Arg)	SLC10A2 (P290R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596444	NM_000452.3(SLC10A2):c.869C>T (p.Pro290Leu)	SLC10A2 (P290L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143607	NM_000452.3(SLC10A2):c.868C>A (p.Pro290Thr)	SLC10A2 (P290T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374538	NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser)	SLC10A2 (P290S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2176395	NM_000452.3(SLC10A2):c.862A>T (p.Thr288Ser)	SLC10A2 (T288S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2127652	NM_000452.3(SLC10A2):c.862A>G (p.Thr288Ala)	SLC10A2 (T288A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597090	NM_000452.3(SLC10A2):c.856G>A (p.Val286Ile)	SLC10A2 (V286I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798938	NM_000452.3(SLC10A2):c.855C>T (p.Val285=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593597	NM_000452.3(SLC10A2):c.846G>A (p.Glu282=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2879009	NM_000452.3(SLC10A2):c.838C>T (p.Pro280Ser)	SLC10A2 (P280S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574938	NM_000452.3(SLC10A2):c.838C>G (p.Pro280Ala)	SLC10A2 (P280A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802282	NM_000452.3(SLC10A2):c.835_836insAA (p.Thr279fs)	SLC10A2 (T279fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 596703	NM_000452.3(SLC10A2):c.835A>T (p.Thr279Ser)	SLC10A2 (T279S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121382	NM_000452.3(SLC10A2):c.829T>C (p.Ser277Pro)	SLC10A2 (S277P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2717884	NM_000452.3(SLC10A2):c.825G>T (p.Gln275His)	SLC10A2 (Q275H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129236	NM_000452.3(SLC10A2):c.815C>T (p.Thr272Ile)	SLC10A2 (T272I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036164	NM_000452.3(SLC10A2):c.808T>A (p.Cys270Ser)	SLC10A2 (C270S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784511	NM_000452.3(SLC10A2):c.807A>G (p.Leu269=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870691	NM_000452.3(SLC10A2):c.801G>A (p.Thr267=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598232	NM_000452.3(SLC10A2):c.800C>T (p.Thr267Met)	SLC10A2 (T267M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596348	NM_000452.3(SLC10A2):c.800C>G (p.Thr267Arg)	SLC10A2 (T267R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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