ClinVar for Gene (Select 6555) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3162753	NM_000452.3(SLC10A2):c.395G>T (p.Cys132Phe)	SLC10A2 (C132F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162751	NM_000452.3(SLC10A2):c.277C>G (p.Leu93Val)	SLC10A2 (L93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148930	GRCh37/hg19 13q33.1-33.3(chr13:103459821-107353917)x1	ARGLU1, BIVM +6 more	Copy number loss	See cases	GUncertain significance
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063296	GRCh37/hg19 13q33.1-33.3(chr13:103694735-109007552)x1	ABHD13, ARGLU1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3061150	NM_000452.3(SLC10A2):c.308_309del (p.Ile103fs)	SLC10A2 (I103fs)	Microsatellite (frameshift variant)	SLC10A2-related disorder	GUncertain significance
Select item 3046706	NM_000452.3(SLC10A2):c.464C>G (p.Ser155Cys)	SLC10A2 (S155C)	Single nucleotide variant (missense variant)	SLC10A2-related disorder	GUncertain significance
Select item 3045080	NM_000452.3(SLC10A2):c.*4dup	SLC10A2	Duplication (3 prime UTR variant)	SLC10A2-related disorder	GLikely benign
Select item 3036972	NM_000452.3(SLC10A2):c.483C>T (p.Pro161=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder	GLikely benign
Select item 3031244	NM_000452.3(SLC10A2):c.459C>T (p.Val153=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder	GLikely benign
Select item 3031147	NM_000452.3(SLC10A2):c.498T>C (p.Gly166=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder	GLikely benign
Select item 3030659	NM_000452.3(SLC10A2):c.586-3dup	SLC10A2	Duplication (intron variant)	SLC10A2-related disorder	GLikely benign
Select item 3029300	NM_000452.3(SLC10A2):c.123G>A (p.Leu41=)	SLC10A2	Single nucleotide variant (synonymous variant)	SLC10A2-related disorder	GLikely benign
Select item 3014922	NM_000452.3(SLC10A2):c.429G>C (p.Leu143=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967107	NM_000452.3(SLC10A2):c.599C>T (p.Ala200Val)	SLC10A2 (A200V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905626	NM_000452.3(SLC10A2):c.990G>A (p.Thr330=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2902536	NM_000452.3(SLC10A2):c.390C>T (p.Thr130=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896301	NM_000452.3(SLC10A2):c.260C>T (p.Ser87Leu)	SLC10A2 (S87L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2895907	NM_000452.3(SLC10A2):c.120C>T (p.Ile40=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895043	NM_000452.3(SLC10A2):c.358G>A (p.Asp120Asn)	SLC10A2 (D120N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894589	NM_000452.3(SLC10A2):c.316T>C (p.Cys106Arg)	SLC10A2 (C106R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892517	NM_000452.3(SLC10A2):c.11C>T (p.Pro4Leu)	SLC10A2 (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888587	NM_000452.3(SLC10A2):c.193C>T (p.Pro65Ser)	SLC10A2 (P65S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883137	NM_000452.3(SLC10A2):c.706G>A (p.Ala236Thr)	SLC10A2 (A236T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881816	NM_000452.3(SLC10A2):c.191G>A (p.Arg64Gln)	SLC10A2 (R64Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2878315	NM_000452.3(SLC10A2):c.785C>A (p.Thr262Lys)	SLC10A2 (T262K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876720	NM_000452.3(SLC10A2):c.586-8T>C	SLC10A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876453	NM_000452.3(SLC10A2):c.211G>A (p.Gly71Ser)	SLC10A2 (G71S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875514	NM_000452.3(SLC10A2):c.497-11G>A	SLC10A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874503	NM_000452.3(SLC10A2):c.282G>A (p.Pro94=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872682	NM_000452.3(SLC10A2):c.153C>A (p.Cys51Ter)	SLC10A2 (C51*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2872038	NM_000452.3(SLC10A2):c.478A>G (p.Ile160Val)	SLC10A2 (I160V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871884	NM_000452.3(SLC10A2):c.559C>G (p.Pro187Ala)	SLC10A2 (P187A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871525	NM_000452.3(SLC10A2):c.585+19A>G	SLC10A2	Single nucleotide variant (intron variant)	not provided	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 2870691	NM_000452.3(SLC10A2):c.801G>A (p.Thr267=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870561	NM_000452.3(SLC10A2):c.378-3C>A	SLC10A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2870474	NM_000452.3(SLC10A2):c.195G>A (p.Pro65=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870287	NM_000452.3(SLC10A2):c.485A>G (p.Tyr162Cys)	SLC10A2 (Y162C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870050	NM_000452.3(SLC10A2):c.403C>A (p.Leu135Met)	SLC10A2 (L135M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868652	NM_000452.3(SLC10A2):c.296T>G (p.Val99Gly)	SLC10A2 (V99G)	Single nucleotide variant (missense 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 2868591	NM_000452.3(SLC10A2):c.556del (p.Trp186fs)	SLC10A2 (W186fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2868067	NM_000452.3(SLC10A2):c.398C>T (p.Ser133Phe)	SLC10A2 (S133F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867552	NM_000452.3(SLC10A2):c.378-12A>G	SLC10A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2867547	NM_000452.3(SLC10A2):c.301C>T (p.Leu101Phe)	SLC10A2 (L101F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866002	NM_000452.3(SLC10A2):c.920-9G>T	SLC10A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863508	NM_000452.3(SLC10A2):c.18C>G (p.Ser6Arg)	SLC10A2 (S6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857066	NM_000452.3(SLC10A2):c.511_512inv (p.Ser171Asp)	SLC10A2 (S171D)	Inversion (missense variant)	not provided	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 2840039	NM_000452.3(SLC10A2):c.757T>C (p.Tyr253His)	SLC10A2 (Y253H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833776	NM_000452.3(SLC10A2):c.717C>T (p.Ser239=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827819	NM_000452.3(SLC10A2):c.375G>C (p.Leu125=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826068	NM_000452.3(SLC10A2):c.870G>T (p.Pro290=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825182	NM_000452.3(SLC10A2):c.762-10T>C	SLC10A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822676	NM_000452.3(SLC10A2):c.63A>C (p.Val21=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822509	NM_000452.3(SLC10A2):c.496+16G>A	SLC10A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821101	NM_000452.3(SLC10A2):c.258G>T (p.Leu86=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816480	NM_000452.3(SLC10A2):c.586-2A>G	SLC10A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2814794	NM_000452.3(SLC10A2):c.640A>G (p.Ile214Val)	SLC10A2 (I214V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810355	NM_000452.3(SLC10A2):c.331G>T (p.Ala111Ser)	SLC10A2 (A111S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807414	NM_000452.3(SLC10A2):c.787G>A (p.Gly263Arg)	SLC10A2 (G263R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803603	NM_000452.3(SLC10A2):c.457G>T (p.Val153Phe)	SLC10A2 (V153F)	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 2799527	NM_000452.3(SLC10A2):c.377G>A (p.Ser126Asn)	SLC10A2 (S126N)	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 2797014	NM_000452.3(SLC10A2):c.508G>A (p.Val170Ile)	SLC10A2 (V170I)	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 2794974	NM_000452.3(SLC10A2):c.165C>G (p.Ile55Met)	SLC10A2 (I55M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794714	NM_000452.3(SLC10A2):c.496+10C>T	SLC10A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790261	NM_000452.3(SLC10A2):c.497-4T>C	SLC10A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786464	NM_000452.3(SLC10A2):c.377+10T>G	SLC10A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786399	NM_000452.3(SLC10A2):c.562dup (p.Gln188fs)	SLC10A2 (Q188fs)	Duplication (frameshift 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 2784511	NM_000452.3(SLC10A2):c.807A>G (p.Leu269=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784091	NM_000452.3(SLC10A2):c.426G>T (p.Pro142=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783586	NM_000452.3(SLC10A2):c.721G>T (p.Gly241Trp)	SLC10A2 (G241W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781593	NM_000452.3(SLC10A2):c.736A>G (p.Arg246Gly)	SLC10A2 (R246G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780170	NM_000452.3(SLC10A2):c.586-1G>A	SLC10A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2777462	NM_000452.3(SLC10A2):c.585+12A>C	SLC10A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777121	NM_000452.3(SLC10A2):c.53C>G (p.Ser18Cys)	SLC10A2 (S18C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771326	NM_000452.3(SLC10A2):c.497-1G>A	SLC10A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2764759	NM_000452.3(SLC10A2):c.771G>A (p.Thr257=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757771	NM_000452.3(SLC10A2):c.476T>C (p.Val159Ala)	SLC10A2 (V159A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750744	NM_000452.3(SLC10A2):c.227T>C (p.Phe76Ser)	SLC10A2 (F76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749596	NM_000452.3(SLC10A2):c.649C>T (p.Gln217Ter)	SLC10A2 (Q217*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2734205	NM_000452.3(SLC10A2):c.236T>A (p.Met79Lys)	SLC10A2 (M79K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726746	NM_000452.3(SLC10A2):c.615T>G (p.Ile205Met)	SLC10A2 (I205M)	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 2718996	NM_000452.3(SLC10A2):c.1024G>A (p.Gly342Arg)	SLC10A2 (G342R)	Single nucleotide variant (missense variant)	SLC10A2-related disorder +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 2714771	NM_000452.3(SLC10A2):c.786G>A (p.Thr262=)	SLC10A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711583	NM_000452.3(SLC10A2):c.759C>G (p.Tyr253Ter)	SLC10A2 (Y253*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2705570	NM_000452.3(SLC10A2):c.737G>A (p.Arg246Lys)	SLC10A2 (R246K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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