ClinVar for Gene (Select 134430) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190006	NM_139281.3(WDR36):c.773T>C (p.Ile258Thr)	WDR36 (I258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190005	NM_139281.3(WDR36):c.352C>A (p.His118Asn)	WDR36 (H118N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190004	NM_139281.3(WDR36):c.310G>A (p.Gly104Ser)	WDR36 (G104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190003	NM_139281.3(WDR36):c.299A>G (p.His100Arg)	WDR36 (H100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190002	NM_139281.3(WDR36):c.88G>T (p.Val30Leu)	LOC129994346, WDR36 (V30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190001	NM_139281.3(WDR36):c.2368C>T (p.Leu790Phe)	WDR36 (L790F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190000	NM_139281.3(WDR36):c.76G>A (p.Asp26Asn)	LOC129994346, WDR36 (D26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189999	NM_139281.3(WDR36):c.1768A>G (p.Ile590Val)	WDR36 (I590V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189998	NM_139281.3(WDR36):c.1703A>G (p.Gln568Arg)	WDR36 (Q568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189997	NM_139281.3(WDR36):c.1624G>A (p.Ala542Thr)	WDR36 (A542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189996	NM_139281.3(WDR36):c.1120C>T (p.Arg374Cys)	WDR36 (R374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189995	NM_139281.3(WDR36):c.952T>C (p.Phe318Leu)	WDR36 (F318L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189994	NM_139281.3(WDR36):c.847C>A (p.Leu283Met)	WDR36 (L283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189993	NM_139281.3(WDR36):c.844G>A (p.Gly282Arg)	WDR36 (G282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 3059390	NM_139281.3(WDR36):c.1717-14_1717-10dup	WDR36	Duplication (intron variant)	WDR36-related disorder	GLikely benign
Select item 3057998	NM_139281.3(WDR36):c.334T>C (p.Leu112=)	WDR36	Single nucleotide variant (synonymous variant)	WDR36-related disorder	GLikely benign
Select item 3053445	NM_139281.3(WDR36):c.2269-4T>C	WDR36	Single nucleotide variant (intron variant)	WDR36-related disorder	GLikely benign
Select item 3052470	NM_139281.3(WDR36):c.942A>G (p.Arg314=)	WDR36	Single nucleotide variant (synonymous variant)	WDR36-related disorder	GLikely benign
Select item 2954670	NM_139281.3(WDR36):c.1717-21_1717-20insATATATATTTT	WDR36	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2912484	NM_139281.3(WDR36):c.1421G>C (p.Gly474Ala)	WDR36 (G474A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905720	NM_139281.3(WDR36):c.725G>A (p.Arg242His)	WDR36 (R242H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811346	NM_139281.3(WDR36):c.1094-20C>G	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781628	NM_139281.3(WDR36):c.1359T>A (p.Ala453=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698021	NM_139281.3(WDR36):c.1843_1844del (p.Met615fs)	WDR36 (M615fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2685167	GRCh37/hg19 5q22.1(chr5:110371834-110456849)x1	TSLP, WDR36	Copy number loss	not provided	GUncertain significance
Select item 2685165	GRCh37/hg19 5q22.1(chr5:110328036-110438929)x1	TSLP, WDR36	Copy number loss	not provided	GUncertain significance
Select item 2671613	Single allele	CAMK4, EFNA5 +11 more	Deletion	not provided	GUncertain significance
Select item 2655631	NM_139281.3(WDR36):c.1717-21_1717-20insATATATT	WDR36	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2621869	NM_139281.3(WDR36):c.154A>G (p.Thr52Ala)	LOC129994346, WDR36 (T52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620403	NM_139281.3(WDR36):c.520C>G (p.Gln174Glu)	WDR36 (Q174E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617716	NM_139281.3(WDR36):c.1729G>C (p.Asp577His)	WDR36 (D577H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613119	NM_139281.3(WDR36):c.1874C>T (p.Ser625Phe)	WDR36 (S625F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602858	NM_139281.3(WDR36):c.1711G>C (p.Asp571His)	WDR36 (D571H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2597563	NM_139281.3(WDR36):c.1401G>A (p.Met467Ile)	WDR36 (M467I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595311	NM_139281.3(WDR36):c.7C>T (p.Arg3Trp)	LOC129994346, WDR36 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577730	NM_139281.3(WDR36):c.1208G>T (p.Gly403Val)	WDR36 (G403V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559981	NM_139281.3(WDR36):c.1640C>G (p.Ser547Cys)	WDR36 (S547C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551721	NM_139281.3(WDR36):c.158A>T (p.Tyr53Phe)	LOC129994346, WDR36 (Y53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548349	NM_139281.3(WDR36):c.689G>A (p.Arg230His)	WDR36 (R230H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540142	NM_139281.3(WDR36):c.1766C>G (p.Ser589Cys)	WDR36 (S589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520541	NM_139281.3(WDR36):c.1870A>G (p.Thr624Ala)	WDR36 (T624A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515305	NM_139281.3(WDR36):c.686T>G (p.Phe229Cys)	WDR36 (F229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513662	NM_139281.3(WDR36):c.2003A>G (p.Asp668Gly)	WDR36 (D668G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511896	NM_139281.3(WDR36):c.223G>A (p.Ala75Thr)	WDR36 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505897	NM_139281.3(WDR36):c.1717-38AT[8]	WDR36	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2499479	GRCh37/hg19 5q21.3-22.1(chr5:108634380-110629961)x3	CAMK4, MAN2A1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 2494920	NM_139281.3(WDR36):c.2399A>C (p.Glu800Ala)	WDR36 (E800A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486291	NM_139281.3(WDR36):c.1754C>T (p.Ala585Val)	WDR36 (A585V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477435	NM_139281.3(WDR36):c.786T>G (p.Asp262Glu)	WDR36 (D262E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474065	NM_139281.3(WDR36):c.1684T>C (p.Phe562Leu)	WDR36 (F562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2438574	NM_139281.3(WDR36):c.2057A>T (p.Asp686Val)	WDR36 (D686V)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, G +1 more	GUncertain significance
Select item 2421298	NM_139281.3(WDR36):c.1693C>T (p.His565Tyr)	WDR36 (H565Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412175	NM_139281.3(WDR36):c.1121G>A (p.Arg374His)	WDR36 (R374H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2402927	NM_139281.3(WDR36):c.544A>G (p.Lys182Glu)	WDR36 (K182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390953	NM_139281.3(WDR36):c.977T>C (p.Leu326Pro)	WDR36 (L326P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386476	NM_139281.3(WDR36):c.2498A>T (p.Asp833Val)	WDR36 (D833V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384084	NM_139281.3(WDR36):c.2168A>C (p.Glu723Ala)	WDR36 (E723A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380562	NM_139281.3(WDR36):c.1229G>A (p.Gly410Asp)	WDR36 (G410D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366664	NM_139281.3(WDR36):c.1078A>C (p.Lys360Gln)	WDR36 (K360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355089	NM_139281.3(WDR36):c.55G>C (p.Ala19Pro)	LOC129994346, WDR36 (A19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355088	NM_139281.3(WDR36):c.53G>T (p.Arg18Leu)	LOC129994346, WDR36 (R18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352163	NM_139281.3(WDR36):c.26C>A (p.Thr9Lys)	LOC129994346, WDR36 (T9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322198	NM_139281.3(WDR36):c.1804G>C (p.Asp602His)	WDR36 (D602H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302972	NM_139281.3(WDR36):c.2032C>T (p.Pro678Ser)	WDR36 (P678S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280692	NM_139281.3(WDR36):c.652C>T (p.His218Tyr)	WDR36 (H218Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261910	NM_139281.3(WDR36):c.559T>A (p.Phe187Ile)	WDR36 (F187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253126	NM_139281.3(WDR36):c.607G>A (p.Val203Met)	WDR36 (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252596	NM_139281.3(WDR36):c.1294A>G (p.Lys432Glu)	WDR36 (K432E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201679	NM_139281.3(WDR36):c.115C>G (p.Arg39Gly)	LOC129994346, WDR36 (R39G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182390	NM_139281.3(WDR36):c.1524A>G (p.Lys508=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2144296	NM_139281.3(WDR36):c.858C>T (p.Leu286=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060895	NM_139281.3(WDR36):c.1824G>A (p.Ser608=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2060870	NM_139281.3(WDR36):c.2064A>G (p.Pro688=)	WDR36	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2060254	NM_139281.3(WDR36):c.2598A>C (p.Ser866=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055749	NM_139281.3(WDR36):c.-62A>C	LOC129994346, WDR36	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2054896	NM_139281.3(WDR36):c.888C>T (p.Gly296=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051294	NM_139281.3(WDR36):c.1059G>A (p.Thr353=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987967	NM_139281.3(WDR36):c.1717-21_1717-20insATTTTT	WDR36	Insertion (intron variant)	not provided	GLikely benign
Select item 1987564	NM_139281.3(WDR36):c.907-18G>A	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1974500	NM_139281.3(WDR36):c.1028-18T>C	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962981	NM_139281.3(WDR36):c.1796+9A>G	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911316	NM_139281.3(WDR36):c.260A>G (p.Asn87Ser)	WDR36 (N87S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896776	NM_139281.3(WDR36):c.1717-21_1717-20insATATTTT	WDR36	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1808130	GRCh37/hg19 5q22.1(chr5:109786744-110813071)x1	CAMK4, SLC25A46 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1804476	NM_139281.3(WDR36):c.1027+87_1027+88insG	WDR36	Insertion (intron variant)	not provided	GLikely benign
Select item 1707145	NM_139281.3(WDR36):c.1717-21_1717-20insATA	WDR36	Insertion (intron variant)	not provided	GLikely benign
Select item 1706908	NM_139281.3(WDR36):c.1797-168T>C	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706769	NM_139281.3(WDR36):c.1093+200A>G	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1685213	NM_139281.3(WDR36):c.889G>T (p.Ala297Ser)	WDR36 (A297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684227	NM_139281.3(WDR36):c.542+30C>T	WDR36	Single nucleotide variant (intron variant)	Glaucoma 1, open angle, G	GBenign
Select item 1650698	NM_139281.3(WDR36):c.1717-22_1717-19del	WDR36	Deletion (intron variant)	not provided	GBenign
Select item 1646537	NM_139281.3(WDR36):c.1904+18G>A	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632800	NM_139281.3(WDR36):c.410-19A>C	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632564	NM_139281.3(WDR36):c.1717-21_1717-20insATATTT	WDR36	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1630877	NM_139281.3(WDR36):c.1717-21_1717-20insATATT	WDR36	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1630847	NM_139281.3(WDR36):c.1717-21_1717-20insATT	WDR36	Insertion (intron variant)	not provided	GLikely benign
Select item 1628410	NM_139281.3(WDR36):c.1717-22A>T	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601460	NM_139281.3(WDR36):c.467_468delinsCC (p.His156Pro)	WDR36 (H156P)	Indel (missense variant)	not provided	GBenign
Select item 1600036	NM_139281.3(WDR36):c.423G>A (p.Gln141=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

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