ClinVar for Gene (Select 283638) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354775	NM_001112726.3(CEP170B):c.1525C>A (p.Arg509=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3266100	NM_001112726.3(CEP170B):c.40G>C (p.Ala14Pro)	CEP170B (A14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266099	NM_001112726.3(CEP170B):c.2546G>A (p.Arg849Gln)	CEP170B (R849Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266098	NM_001112726.3(CEP170B):c.2624G>C (p.Ser875Thr)	CEP170B (S805T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266097	NM_001112726.3(CEP170B):c.4227G>A (p.Ser1409=)	CEP170B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3266096	NM_001112726.3(CEP170B):c.3290G>A (p.Arg1097His)	CEP170B (R1027H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266095	NM_001112726.3(CEP170B):c.4155C>G (p.Asn1385Lys)	CEP170B (N1385K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266094	NM_001112726.3(CEP170B):c.2345G>A (p.Gly782Asp)	CEP170B (G712D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266093	NM_001112726.3(CEP170B):c.2785C>T (p.Leu929Phe)	CEP170B (L859F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266092	NM_001112726.3(CEP170B):c.3982G>A (p.Ala1328Thr)	CEP170B (A1293T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266091	NM_001112726.3(CEP170B):c.2861C>T (p.Ser954Leu)	CEP170B (S884L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266090	NM_001112726.3(CEP170B):c.4175G>T (p.Arg1392Leu)	CEP170B (R1357L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266089	NM_001112726.3(CEP170B):c.4516G>A (p.Val1506Met)	CEP170B (V1506M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266088	NM_001112726.3(CEP170B):c.2818G>A (p.Gly940Ser)	CEP170B (G940S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266087	NM_001112726.3(CEP170B):c.1538C>T (p.Pro513Leu)	CEP170B (P513L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266086	NM_001112726.3(CEP170B):c.3080G>A (p.Arg1027Gln)	CEP170B (R1027Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266085	NM_001112726.3(CEP170B):c.299G>A (p.Arg100His)	CEP170B (R100H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266083	NM_001112726.3(CEP170B):c.3214G>A (p.Gly1072Arg)	CEP170B (G1072R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266082	NM_001112726.3(CEP170B):c.1153C>T (p.Arg385Trp)	CEP170B (R315W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266081	NM_001112726.3(CEP170B):c.1624A>C (p.Thr542Pro)	CEP170B (T472P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266080	NM_001112726.3(CEP170B):c.2440G>A (p.Ala814Thr)	CEP170B (A744T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266079	NM_001112726.3(CEP170B):c.626G>A (p.Arg209His)	CEP170B (R209H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266078	NM_001112726.3(CEP170B):c.3064C>T (p.Arg1022Cys)	CEP170B (R1022C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266077	NM_001112726.3(CEP170B):c.1058A>G (p.Lys353Arg)	CEP170B (K283R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266076	NM_001112726.3(CEP170B):c.1360G>T (p.Ala454Ser)	CEP170B (A454S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266075	NM_001112726.3(CEP170B):c.4094C>T (p.Ser1365Leu)	CEP170B (S1365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266074	NM_001112726.3(CEP170B):c.2059G>A (p.Gly687Arg)	CEP170B (G617R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266072	NM_001112726.3(CEP170B):c.2134C>A (p.Pro712Thr)	CEP170B (P642T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266071	NM_001112726.3(CEP170B):c.2050C>T (p.Arg684Cys)	CEP170B (R614C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266070	NM_001112726.3(CEP170B):c.2350C>T (p.Arg784Cys)	CEP170B (R714C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266069	NM_001112726.3(CEP170B):c.3212C>T (p.Thr1071Ile)	CEP170B (T1001I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3142706	NM_001112726.3(CEP170B):c.794G>A (p.Ser265Asn)	CEP170B (S195N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142705	NM_001112726.3(CEP170B):c.689C>T (p.Thr230Met)	CEP170B (T160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142704	NM_001112726.3(CEP170B):c.629C>T (p.Ala210Val)	CEP170B (A140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142703	NM_001112726.3(CEP170B):c.581G>A (p.Arg194His)	CEP170B (R124H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142702	NM_001112726.3(CEP170B):c.4646C>T (p.Ala1549Val)	CEP170B (A1549V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142700	NM_001112726.3(CEP170B):c.4631C>T (p.Thr1544Ile)	CEP170B (T1509I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142699	NM_001112726.3(CEP170B):c.4508A>C (p.Lys1503Thr)	CEP170B (K1468T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142698	NM_001112726.3(CEP170B):c.4496C>T (p.Pro1499Leu)	CEP170B (P1464L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142697	NM_001112726.3(CEP170B):c.3793G>C (p.Gly1265Arg)	CEP170B (G1230R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142696	NM_001112726.3(CEP170B):c.3742A>G (p.Thr1248Ala)	CEP170B (T1213A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142695	NM_001112726.3(CEP170B):c.3593G>A (p.Arg1198His)	CEP170B (R1128H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142693	NM_001112726.3(CEP170B):c.3374G>A (p.Arg1125Gln)	CEP170B (R1125Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142692	NM_001112726.3(CEP170B):c.3353C>T (p.Pro1118Leu)	CEP170B (P1048L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142691	NM_001112726.3(CEP170B):c.3235C>T (p.Arg1079Cys)	CEP170B (R1079C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142690	NM_001112726.3(CEP170B):c.3230G>A (p.Gly1077Asp)	CEP170B (G1007D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142689	NM_001112726.3(CEP170B):c.3074C>T (p.Pro1025Leu)	CEP170B (P955L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142688	NM_001112726.3(CEP170B):c.3053C>T (p.Thr1018Met)	CEP170B (T948M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142687	NM_001112726.3(CEP170B):c.2857G>A (p.Asp953Asn)	CEP170B (D883N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142686	NM_001112726.3(CEP170B):c.2837C>T (p.Pro946Leu)	CEP170B (P876L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142685	NM_001112726.3(CEP170B):c.2828C>T (p.Pro943Leu)	CEP170B (P943L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142684	NM_001112726.3(CEP170B):c.2669C>A (p.Pro890Gln)	CEP170B (P890Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142683	NM_001112726.3(CEP170B):c.2653C>G (p.His885Asp)	CEP170B (H815D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142682	NM_001112726.3(CEP170B):c.2617C>G (p.Pro873Ala)	CEP170B (P803A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142681	NM_001112726.3(CEP170B):c.2554C>T (p.Arg852Trp)	CEP170B (R852W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142680	NM_001112726.3(CEP170B):c.2510A>G (p.Tyr837Cys)	CEP170B (Y767C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142679	NM_001112726.3(CEP170B):c.250A>G (p.Asn84Asp)	CEP170B (N14D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142678	NM_001112726.3(CEP170B):c.2498G>A (p.Arg833Gln)	CEP170B (R763Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142677	NM_001112726.3(CEP170B):c.2497C>T (p.Arg833Trp)	CEP170B (R763W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142676	NM_001112726.3(CEP170B):c.2441C>T (p.Ala814Val)	CEP170B (A744V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142675	NM_001112726.3(CEP170B):c.2333C>T (p.Thr778Met)	CEP170B (T708M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142674	NM_001112726.3(CEP170B):c.2281C>A (p.Pro761Thr)	CEP170B (P691T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142673	NM_001112726.3(CEP170B):c.2087G>C (p.Arg696Pro)	CEP170B (R626P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142671	NM_001112726.3(CEP170B):c.1952C>T (p.Pro651Leu)	CEP170B (P581L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142670	NM_001112726.3(CEP170B):c.1765G>A (p.Asp589Asn)	CEP170B (D519N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142669	NM_001112726.3(CEP170B):c.1699G>A (p.Ala567Thr)	CEP170B (A567T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142668	NM_001112726.3(CEP170B):c.1577T>C (p.Leu526Pro)	CEP170B (L456P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142667	NM_001112726.3(CEP170B):c.1493G>A (p.Arg498His)	CEP170B (R428H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142666	NM_001112726.3(CEP170B):c.1484G>A (p.Arg495His)	CEP170B (R425H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142665	NM_001112726.3(CEP170B):c.1424G>A (p.Arg475Gln)	CEP170B (R475Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142664	NM_001112726.3(CEP170B):c.1393G>A (p.Gly465Ser)	CEP170B (G395S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142663	NM_001112726.3(CEP170B):c.1306C>T (p.Arg436Cys)	CEP170B (R366C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142662	NM_001112726.3(CEP170B):c.11C>T (p.Thr4Met)	CEP170B (T4M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142661	NM_001112726.3(CEP170B):c.1046T>C (p.Leu349Pro)	CEP170B (L349P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 3060905	NM_001112726.3(CEP170B):c.1062C>T (p.His354=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3060799	NM_001112726.3(CEP170B):c.1106C>T (p.Ala369Val)	CEP170B (A299V +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GLikely benign
Select item 3060376	NM_001112726.3(CEP170B):c.3717A>G (p.Ser1239=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3060305	NM_001112726.3(CEP170B):c.1752C>T (p.Ala584=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3060008	NM_001112726.3(CEP170B):c.1119T>C (p.Ala373=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3059697	NM_001112726.3(CEP170B):c.1683C>T (p.Asp561=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3059511	NM_001112726.3(CEP170B):c.3879-7G>C	CEP170B	Single nucleotide variant (intron variant)	CEP170B-related disorder	GBenign
Select item 3058990	NM_001112726.3(CEP170B):c.1239A>G (p.Thr413=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3058985	NM_001112726.3(CEP170B):c.267C>T (p.Phe89=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3058875	NM_001112726.3(CEP170B):c.594A>C (p.Pro198=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3058761	NM_001112726.3(CEP170B):c.1425G>T (p.Arg475=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3058725	NM_001112726.3(CEP170B):c.381G>A (p.Ala127=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3057111	NM_001112726.3(CEP170B):c.1632G>C (p.Pro544=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3056334	NM_001112726.3(CEP170B):c.678C>T (p.Phe226=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3056306	NM_001112726.3(CEP170B):c.1623G>C (p.Pro541=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3056271	NM_001112726.3(CEP170B):c.3879-8G>A	CEP170B	Single nucleotide variant (intron variant)	CEP170B-related disorder	GBenign
Select item 3056165	NM_001112726.3(CEP170B):c.342G>A (p.Lys114=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3055749	NM_001112726.3(CEP170B):c.2311_2316del (p.Arg771_Ser772del)	CEP170B	Deletion	CEP170B-related disorder	GBenign
Select item 3055708	NM_001112726.3(CEP170B):c.318G>A (p.Pro106=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3055683	NM_001112726.3(CEP170B):c.1629A>C (p.Pro543=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3055568	NM_001112726.3(CEP170B):c.1323C>T (p.Ala441=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3053452	NM_001112726.3(CEP170B):c.1632G>A (p.Pro544=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3053206	NM_001112726.3(CEP170B):c.2884G>A (p.Val962Ile)	CEP170B (V892I +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GLikely benign

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