ClinVar for Gene (Select 284403) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370213	NM_001083961.2(WDR62):c.646G>C (p.Val216Leu)	WDR62 (V216L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368252	NM_001083961.2(WDR62):c.146C>T (p.Ser49Leu)	WDR62 (S49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362467	NM_001083961.2(WDR62):c.752ACA[2] (p.Asn253del)	WDR62 (N253del)	Microsatellite	Skraban-Deardorff syndrome	GUncertain significance
Select item 3357903	NM_001083961.2(WDR62):c.1043+1G>C	WDR62	Single nucleotide variant (splice donor variant +1 more)	WDR62-related disorder	GLikely pathogenic
Select item 3354576	NM_001083961.2(WDR62):c.3633C>T (p.Ala1211=)	WDR62	Single nucleotide variant (synonymous variant)	WDR62-related disorder	GLikely benign
Select item 3345392	NM_001083961.2(WDR62):c.2932del (p.Val978fs)	WDR62 (V861fs +2 more)	Deletion (frameshift variant)	WDR62-related disorder	GLikely pathogenic
Select item 3343941	NM_001083961.2(WDR62):c.1711_1712insTA (p.Asn571fs)	WDR62 (N454fs +2 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 3343552	NM_001083961.2(WDR62):c.2146+2dup	WDR62	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3337745	NM_001083961.2(WDR62):c.4312-1G>A	WDR62	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3337744	NM_001083961.2(WDR62):c.5C>A (p.Ala2Glu)	WDR62 (A2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336245	NC_000019.9:g.(36564434_36572334)_(36575647_36577588)del	WDR62	Deletion	Autosomal recessive primary microcephaly	GPathogenic
Select item 3332892	NM_001083961.2(WDR62):c.4223C>T (p.Pro1408Leu)	WDR62 (P1291L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332891	NM_001083961.2(WDR62):c.1675C>T (p.Arg559Trp)	WDR62 (R554W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332889	NM_001083961.2(WDR62):c.3517C>T (p.Pro1173Ser)	WDR62 (P1090S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332888	NM_001083961.2(WDR62):c.1669C>G (p.Arg557Gly)	WDR62 (R557G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332887	NM_001083961.2(WDR62):c.3647C>G (p.Ser1216Cys)	WDR62 (S1133C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332886	NM_001083961.2(WDR62):c.4275G>T (p.Gln1425His)	WDR62 (Q1308H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332885	NM_001083961.2(WDR62):c.784C>T (p.Arg262Trp)	WDR62 (R262W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332884	NM_001083961.2(WDR62):c.3748C>T (p.Arg1250Cys)	WDR62 (R1245C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332882	NM_001083961.2(WDR62):c.4126A>G (p.Thr1376Ala)	WDR62 (T1259A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332881	NM_001083961.2(WDR62):c.1753G>A (p.Ala585Thr)	WDR62 (A585T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255119	NM_001083961.2(WDR62):c.4486del (p.Leu1496fs)	WDR62 (L1379fs +3 more)	Deletion (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 3250885	NM_001083961.2(WDR62):c.663G>A (p.Val221=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242662	NC_000019.9:g.(?_36556840)_(36564453_?)del	WDR62	Deletion	not provided	GPathogenic
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3234588	NM_001083961.2(WDR62):c.1233+1526G>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3190175	NM_001083961.2(WDR62):c.796G>T (p.Ala266Ser)	WDR62 (A266S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190174	NM_001083961.2(WDR62):c.763T>G (p.Phe255Val)	WDR62 (F255V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190172	NM_001083961.2(WDR62):c.450G>C (p.Glu150Asp)	WDR62 (E150D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190171	NM_001083961.2(WDR62):c.4294C>T (p.Leu1432Phe)	WDR62 (L1349F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190170	NM_001083961.2(WDR62):c.4226C>G (p.Pro1409Arg)	WDR62 (P1326R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190169	NM_001083961.2(WDR62):c.3989G>T (p.Ser1330Ile)	WDR62 (S1247I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190168	NM_001083961.2(WDR62):c.3955G>A (p.Val1319Ile)	WDR62 (V1236I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190166	NM_001083961.2(WDR62):c.3442G>A (p.Ala1148Thr)	WDR62 (A1065T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3190163	NM_001083961.2(WDR62):c.3062C>T (p.Thr1021Met)	WDR62 (T904M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3190161	NM_001083961.2(WDR62):c.2864A>G (p.Asp955Gly)	WDR62 (D838G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190160	NM_001083961.2(WDR62):c.2384G>A (p.Gly795Glu)	WDR62 (G795E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190159	NM_001083961.2(WDR62):c.2365A>T (p.Ile789Phe)	WDR62 (I672F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075991	NM_001083961.2(WDR62):c.1495C>T (p.Gln499Ter)	WDR62 (Q382* +2 more)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 3067961	NM_001083961.2(WDR62):c.2867+5G>A	WDR62	Single nucleotide variant (intron variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3067580	NM_001083961.2(WDR62):c.576G>A (p.Val192=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065940	NM_001083961.2(WDR62):c.882+1G>T	WDR62	Single nucleotide variant (splice donor variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3062377	GRCh37/hg19 19q13.12(chr19:36451071-36752221)x3	ALKBH6, CAPNS1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3058050	NM_001083961.2(WDR62):c.642C>T (p.Val214=)	WDR62	Single nucleotide variant (synonymous variant)	WDR62-related disorder	GLikely benign
Select item 3047362	NM_001083961.2(WDR62):c.3132C>T (p.Ser1044=)	WDR62	Single nucleotide variant (synonymous variant +1 more)	WDR62-related disorder	GLikely benign
Select item 3039945	NM_001083961.2(WDR62):c.2146+4G>A	WDR62	Single nucleotide variant (intron variant)	WDR62-related disorder	GLikely benign
Select item 3036427	NM_001083961.2(WDR62):c.3162G>C (p.Pro1054=)	WDR62	Single nucleotide variant (synonymous variant +1 more)	WDR62-related disorder	GLikely benign
Select item 3034819	NM_001083961.2(WDR62):c.391-6C>T	WDR62	Single nucleotide variant (intron variant)	WDR62-related disorder	GLikely benign
Select item 3029467	NM_001083961.2(WDR62):c.2193C>A (p.Ile731=)	WDR62	Single nucleotide variant (synonymous variant)	WDR62-related disorder	GLikely benign
Select item 3019152	NM_001083961.2(WDR62):c.4437C>G (p.Ala1479=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017268	NM_001083961.2(WDR62):c.2331C>T (p.Pro777=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3016571	NM_001083961.2(WDR62):c.3528G>A (p.Thr1176=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014998	NM_001083961.2(WDR62):c.3711T>C (p.Ser1237=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010775	NM_001083961.2(WDR62):c.3495G>A (p.Leu1165=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010703	NM_001083961.2(WDR62):c.3082+2T>C	WDR62	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 3009559	NM_001083961.2(WDR62):c.1642+17G>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009436	NM_001083961.2(WDR62):c.561+12C>G	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008617	NM_001083961.2(WDR62):c.1837-10G>C	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007989	NM_001083961.2(WDR62):c.562-20C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005155	NM_001083961.2(WDR62):c.1596C>G (p.Ala532=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000248	NM_001083961.2(WDR62):c.1769-15G>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997359	NM_001083961.2(WDR62):c.798G>A (p.Ala266=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993228	NM_001083961.2(WDR62):c.516C>T (p.Ser172=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988747	NM_001083961.2(WDR62):c.1113C>T (p.His371=)	WDR62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986302	NM_001083961.2(WDR62):c.391-17G>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982682	NM_001083961.2(WDR62):c.3960C>T (p.Thr1320=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980488	NM_001083961.2(WDR62):c.1608G>A (p.Glu536=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980190	NM_001083961.2(WDR62):c.1512C>G (p.Gly504=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979499	NM_001083961.2(WDR62):c.1958+14C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979242	NM_001083961.2(WDR62):c.3082+15G>C	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978942	NM_001083961.2(WDR62):c.391-18C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976665	NM_001083961.2(WDR62):c.1233+12C>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973816	NM_001083961.2(WDR62):c.2034+19_2034+20del	WDR62	Deletion (intron variant)	not provided	GLikely benign
Select item 2973442	NM_001083961.2(WDR62):c.547G>A (p.Val183Ile)	WDR62 (V183I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969494	NM_001083961.2(WDR62):c.1043+13G>C	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969065	NM_001083961.2(WDR62):c.2487C>G (p.Thr829=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966269	NM_001083961.2(WDR62):c.3221-5C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2964490	NM_001083961.2(WDR62):c.1551-17C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963341	NM_001083961.2(WDR62):c.2146+9G>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960114	NM_001083961.2(WDR62):c.1233+11C>G	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957852	NM_001083961.2(WDR62):c.3873C>T (p.His1291=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956533	NM_001083961.2(WDR62):c.1233+16A>C	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915521	NM_001083961.2(WDR62):c.3406C>T (p.Arg1136Ter)	WDR62 (R1019* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2914586	NM_001083961.2(WDR62):c.218dup (p.Ser73fs)	WDR62 (S73fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2908715	NM_001083961.2(WDR62):c.2964G>A (p.Pro988=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900489	NM_001083961.2(WDR62):c.753C>T (p.His251=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889428	NM_001083961.2(WDR62):c.432G>A (p.Glu144=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885157	NM_001083961.2(WDR62):c.1152C>T (p.Tyr384=)	WDR62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2863196	NM_001083961.2(WDR62):c.4312-16C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846612	NM_001083961.2(WDR62):c.2091del (p.Ser698fs)	WDR62 (S698fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2846611	NM_001083961.2(WDR62):c.1019A>C (p.Asp340Ala)	WDR62 (D340A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2842256	NM_001083961.2(WDR62):c.4354C>A (p.Arg1452=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834603	NM_001083961.2(WDR62):c.561+10G>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834601	NM_001083961.2(WDR62):c.2972-19C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831716	NM_001083961.2(WDR62):c.3220+10T>C	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814429	NM_001083961.2(WDR62):c.3454_3455del (p.Arg1152fs)	WDR62 (R1069fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2813539	NM_001083961.2(WDR62):c.1179A>G (p.Arg393=)	WDR62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2810127	NM_001083961.2(WDR62):c.3220+9C>G	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807479	NM_001083961.2(WDR62):c.2373C>T (p.Ser791=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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