ClinVar for MedGen (Select 346929) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691894	NM_001083961.2(WDR62):c.2035-2A>G	WDR62	Single nucleotide variant (splice acceptor variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 2691877	NM_001083961.2(WDR62):c.1669C>T (p.Arg557Trp)	WDR62 (R440W +2 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2690780	NM_001083961.2(WDR62):c.3711_3714del (p.Ser1237fs)	WDR62 (S1120fs +3 more)	Deletion (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 2690449	NM_001083961.2(WDR62):c.1024G>A (p.Ala342Thr)	WDR62 (A342T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2583171	NM_001083961.2(WDR62):c.897del (p.Cys300fs)	WDR62 (C300fs)	Deletion (frameshift variant +1 more)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 2582436	NM_001083961.2(WDR62):c.3121G>A (p.Glu1041Lys)	WDR62 (E1036K +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2505558	NM_001083961.2(WDR62):c.242G>A (p.Gly81Asp)	WDR62 (G81D)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2442360	NM_001083961.2(WDR62):c.1175_1200dup (p.Leu401fs)	WDR62 (L401fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 2438583	NM_001083961.2(WDR62):c.2418T>G (p.Cys806Trp)	WDR62 (C689W +2 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2438582	NM_001083961.2(WDR62):c.2284C>T (p.Arg762Trp)	WDR62 (R645W +2 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2438581	NM_001083961.2(WDR62):c.66G>A (p.Met22Ile)	WDR62 (M22I)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2438580	NM_001083961.2(WDR62):c.1892T>C (p.Leu631Ser)	WDR62 (L514S +2 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2438579	NM_001083961.2(WDR62):c.460C>T (p.His154Tyr)	WDR62 (H154Y)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2438578	NM_001083961.2(WDR62):c.1906A>C (p.Ile636Leu)	WDR62 (I519L +2 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2434642	NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)	WDR62 (Q1025* +4 more)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 2412764	NM_001083961.2(WDR62):c.1589dup (p.Glu531fs)	WDR62 (E531fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 2139714	NM_001083961.2(WDR62):c.571G>A (p.Val191Ile)	WDR62 (V191I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1981207	NM_001083961.2(WDR62):c.3731_3740del (p.Thr1244fs)	WDR62 (T1239fs +1 more)	Deletion (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GPathogenic
Select item 1927980	NM_001083961.2(WDR62):c.1487G>A (p.Arg496Gln)	WDR62 (R379Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806279	NM_001083961.2(WDR62):c.3336-6C>G	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 1806268	NM_001083961.2(WDR62):c.2984C>G (p.Ser995Ter)	WDR62 (S107* +3 more)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 1805940	NM_001083961.2(WDR62):c.3083-2A>T	WDR62	Single nucleotide variant (splice acceptor variant +1 more)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 1805068	NM_001083961.2(WDR62):c.3863G>A (p.Trp1288Ter)	WDR62 (W1171* +4 more)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 1709550	NM_001083961.2(WDR62):c.1605dup (p.Glu536Ter)	WDR62 (E536*)	Duplication (nonsense +1 more)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 1700711	NM_001083961.2(WDR62):c.3412G>T (p.Gly1138Ter)	WDR62 (G1133* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 1679332	NM_001083961.2(WDR62):c.1138G>A (p.Asp380Asn)	WDR62 (D380N)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 1526085	NM_001083961.2(WDR62):c.250dup (p.His84fs)	WDR62 (H84fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 1435927	NM_001083961.2(WDR62):c.1535G>T (p.Arg512Leu)	WDR62 (R512L)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GUncertain significance
Select item 1336504	NM_001083961.2(WDR62):c.3469G>A (p.Ala1157Thr)	WDR62 (A1152T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1336501	NM_001083961.2(WDR62):c.423T>C (p.Asp141=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GConflicting classifications of pathogenicity
Select item 1334190	NM_001083961.2(WDR62):c.659A>G (p.His220Arg)	WDR62 (H220R)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 1333771	NM_001083961.2(WDR62):c.3073del (p.His1025fs)	WDR62 (H1025fs)	Deletion (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 1333548	NM_001083961.2(WDR62):c.2260C>T (p.Gln754Ter)	WDR62 (Q754*)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 1333216	NM_001083961.2(WDR62):c.270-15_287del	WDR62	Deletion (splice acceptor variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 1325360	NM_001083961.2(WDR62):c.1194G>A (p.Trp398Ter)	WDR62 (W398*)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 1323767	NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs)	WDR62 (I68fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 1308946	NM_001083961.2(WDR62):c.4397T>A (p.Leu1466Gln)	WDR62 (L1461Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1201655	NM_001083961.2(WDR62):c.2739+17C>A	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GBenign/Likely benign
Select item 1187007	NM_001083961.2(WDR62):c.1234-1G>A	WDR62	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1030120	NM_001083961.2(WDR62):c.700-17G>A	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 1030119	NM_001083961.2(WDR62):c.481G>A (p.Val161Met)	WDR62 (V161M)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 1030118	NM_001083961.2(WDR62):c.332G>C (p.Arg111Thr)	WDR62 (R111T)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 1030117	NM_001083961.2(WDR62):c.1169A>G (p.Asp390Gly)	WDR62 (D390G)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 997790	NM_001083961.2(WDR62):c.3383_3401del (p.Ser1128fs)	WDR62 (S1123fs +1 more)	Deletion (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 997789	NM_001083961.2(WDR62):c.1526C>T (p.Ser509Leu)	WDR62 (S509L)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 997788	NM_001083961.2(WDR62):c.3469_3470del (p.Ala1157fs)	WDR62 (A1152fs +1 more)	Deletion (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 996743	NM_001083961.2(WDR62):c.1598A>G (p.His533Arg)	WDR62 (H533R)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 977913	NM_001083961.2(WDR62):c.1963dup (p.Tyr655fs)	WDR62 (Y655fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 977873	NM_001083961.2(WDR62):c.118A>G (p.Ile40Val)	WDR62 (I40V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 977857	NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile)	WDR62 (T829I)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 977845	NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)	WDR62 (R863H)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 977613	NM_001083961.2(WDR62):c.4312-1G>C	WDR62	Single nucleotide variant (splice acceptor variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GConflicting classifications of pathogenicity
Select item 976406	NM_001083961.2(WDR62):c.1576G>T (p.Glu526Ter)	WDR62 (E526*)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 930430	NM_001083961.2(WDR62):c.2728C>A (p.Leu910Met)	WDR62 (L910M)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 916172	NM_001083961.2(WDR62):c.4345C>T (p.Gln1449Ter)	WDR62 (Q1449* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 892283	NM_001083961.2(WDR62):c.2950A>G (p.Lys984Glu)	WDR62 (K984E)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 892164	NM_001083961.2(WDR62):c.328G>A (p.Ala110Thr)	WDR62 (A110T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 892163	NM_001083961.2(WDR62):c.272G>A (p.Cys91Tyr)	WDR62 (C91Y)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 892162	NM_001083961.2(WDR62):c.241G>A (p.Gly81Ser)	WDR62 (G81S)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 892161	NM_001083961.2(WDR62):c.159G>A (p.Glu53=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 891140	NM_001083961.2(WDR62):c.3950C>T (p.Pro1317Leu)	WDR62 (P1312L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 891139	NM_001083961.2(WDR62):c.3857G>A (p.Arg1286His)	WDR62 (R1281H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891065	NM_001083961.2(WDR62):c.2814T>C (p.Ser938=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 891064	NM_001083961.2(WDR62):c.2624C>T (p.Thr875Ile)	WDR62 (T875I)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 890997	NM_001083961.2(WDR62):c.1233+15C>A	WDR62	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 890996	NM_001083961.2(WDR62):c.1233+11C>A	WDR62	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 890931	NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser)	WDR62 (C41S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890930	NM_001083961.2(WDR62):c.64A>C (p.Met22Leu)	WDR62 (M22L)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 890642	NM_001083961.2(WDR62):c.*57G>A	WDR62	Single nucleotide variant (3 prime UTR variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 890502	NM_001083961.2(WDR62):c.2334-13T>C	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 890427	NM_001083961.2(WDR62):c.1183G>A (p.Gly395Ser)	WDR62 (G395S)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 890426	NM_001083961.2(WDR62):c.984C>T (p.Leu328=)	WDR62	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890425	NM_001083961.2(WDR62):c.892T>C (p.Ser298Pro)	WDR62 (S298P)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 890424	NM_001083961.2(WDR62):c.824C>T (p.Ser275Leu)	WDR62 (S275L)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GConflicting classifications of pathogenicity
Select item 888882	NM_001083961.2(WDR62):c.3221-13G>T	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 888881	NM_001083961.2(WDR62):c.3221-15G>A	WDR62	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 888797	NM_001083961.2(WDR62):c.2000A>G (p.Lys667Arg)	WDR62 (K667R)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 888796	NM_001083961.2(WDR62):c.1837-12C>T	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 888795	NM_001083961.2(WDR62):c.1836+15C>A	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 888794	NM_001083961.2(WDR62):c.1709A>G (p.Tyr570Cys)	WDR62 (Y570C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 888722	NM_001083961.2(WDR62):c.803G>C (p.Ser268Thr)	WDR62 (S268T)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 888721	NM_001083961.2(WDR62):c.546C>T (p.Asn182=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GConflicting classifications of pathogenicity
Select item 864869	NM_001083961.2(WDR62):c.836G>A (p.Cys279Tyr)	WDR62 (C279Y)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 818086	NM_001083961.2(WDR62):c.669del (p.Trp224fs)	WDR62 (W224fs)	Deletion (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 817985	NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs)	WDR62 (L1412fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 817049	NM_001083961.2(WDR62):c.1821dup (p.Arg608fs)	WDR62 (R608fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 737236	NM_001083961.2(WDR62):c.3063G>A (p.Thr1021=)	WDR62	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 718161	NM_001083961.2(WDR62):c.4033C>T (p.Arg1345Cys)	WDR62 (R1340C +1 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GConflicting classifications of pathogenicity
Select item 694008	NM_001083961.2(WDR62):c.2788C>T (p.Gln930Ter)	WDR62 (Q930*)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 689596	NM_001083961.2(WDR62):c.4283T>C (p.Phe1428Ser)	WDR62 (F1423S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 670072	NM_001083961.2(WDR62):c.391-10C>T	WDR62	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 635184	NM_001083961.2(WDR62):c.883-4_890del	WDR62	Deletion (splice acceptor variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 635183	NM_001083961.2(WDR62):c.1684C>G (p.His562Asp)	WDR62 (H562D)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 632061	NM_001083961.2(WDR62):c.3878C>A (p.Ala1293Asp)	WDR62 (A1293D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 631811	NM_001083961.2(WDR62):c.75dup (p.Pro26fs)	WDR62 (P26fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 623946	NM_001083961.2(WDR62):c.1129G>T (p.Val377Leu)	WDR62 (V377L)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GUncertain significance
Select item 598371	NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del)	WDR62 (K664del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 595048	NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr)	WDR62 (A1020T)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GConflicting classifications of pathogenicity
Select item 518299	NM_001083961.2(WDR62):c.2972-15G>A	WDR62	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 514101	NM_001083961.2(WDR62):c.744C>T (p.Gly248=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GBenign/Likely benign

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