C1858535[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160280	NM_001083961.2(WDR62):c.32G>C (p.Arg11Pro)	WDR62 (R11P)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160307	NM_001083961.2(WDR62):c.82C>G (p.Arg28Gly)	WDR62 (R28G)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 93535	NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)	WDR62 (L48F)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GBenign/Likely benign
Select item 160258	NM_001083961.2(WDR62):c.180G>A (p.Val60=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 137909	NM_001083961.2(WDR62):c.186C>T (p.Leu62=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 328905	NM_001083961.2(WDR62):c.253G>A (p.Val85Met)	WDR62 (V85M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 160282	NM_001083961.2(WDR62):c.332+1G>A	WDR62	Single nucleotide variant (splice donor variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 160292	NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr)	WDR62 (S120Y)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
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 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 160305	NM_001083961.2(WDR62):c.562-13C>T	WDR62	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 160306	NM_001083961.2(WDR62):c.589G>A (p.Val197Ile)	WDR62 (V197I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 137906	NM_001083961.2(WDR62):c.700-18C>T	WDR62	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 160308	NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg)	WDR62 (K289R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 160309	NM_001083961.2(WDR62):c.964G>C (p.Ala322Pro)	WDR62 (A322P)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160243	NM_001083961.2(WDR62):c.1043+3A>G	WDR62	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160244	NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp)	WDR62 (N409D)	Single nucleotide variant (missense variant)	WDR62-related condition +3 more	GBenign/Likely benign
Select item 167848	NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)	WDR62 (V410L)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GConflicting classifications of pathogenicity
Select item 160245	NM_001083961.2(WDR62):c.1233+13C>T	WDR62	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 160246	NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys)	WDR62 (R438C)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 160247	NM_001083961.2(WDR62):c.1315T>G (p.Phe439Val)	WDR62 (F439V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 212598	NM_001083961.2(WDR62):c.1359C>T (p.Asn453=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 160248	NM_001083961.2(WDR62):c.1470C>T (p.Asp490=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 160249	NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)	WDR62 (G494R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 160250	NM_001083961.2(WDR62):c.1486C>T (p.Arg496Trp)	WDR62 (R496W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160251	NM_001083961.2(WDR62):c.1534C>G (p.Arg512Gly)	WDR62 (R512G)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 41	NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)	WDR62 (E526K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 160252	NM_001083961.2(WDR62):c.1641G>A (p.Thr547=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 137907	NM_001083961.2(WDR62):c.1642+8C>T	WDR62	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 328914	NM_001083961.2(WDR62):c.1642+9G>A	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GConflicting classifications of pathogenicity
Select item 160254	NM_001083961.2(WDR62):c.1643-39G>A	WDR62	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 160253	NM_001083961.2(WDR62):c.1643-10C>T	WDR62	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 160255	NM_001083961.2(WDR62):c.1681A>T (p.Ile561Phe)	WDR62 (I561F)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160256	NM_001083961.2(WDR62):c.1750A>C (p.Thr584Pro)	WDR62 (T584P)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 194612	NM_001083961.2(WDR62):c.2016C>T (p.Asp672=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 160260	NM_001083961.2(WDR62):c.2084_2090dup (p.Ser698fs)	WDR62 (S698fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 194718	NM_001083961.2(WDR62):c.2112G>C (p.Ser704=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 160261	NM_001083961.2(WDR62):c.2147-34G>A	WDR62	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 160262	NM_001083961.2(WDR62):c.2211-4G>A	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +3 more	GConflicting classifications of pathogenicity
Select item 160263	NM_001083961.2(WDR62):c.2271G>A (p.Leu757=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 137908	NM_001083961.2(WDR62):c.2281C>T (p.His761Tyr)	WDR62 (H761Y)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 160264	NM_001083961.2(WDR62):c.2312A>G (p.Lys771Arg)	WDR62 (K771R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 160265	NM_001083961.2(WDR62):c.2334-29C>T	WDR62	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 160266	NM_001083961.2(WDR62):c.2334-6C>A	WDR62	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 160267	NM_001083961.2(WDR62):c.2490C>T (p.Asn830=)	WDR62	Single nucleotide variant (synonymous variant)	WDR62-related condition +1 more	GConflicting classifications of pathogenicity
Select item 160268	NM_001083961.2(WDR62):c.2529C>T (p.Asp843=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 160269	NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser)	WDR62 (L850S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 160270	NM_001083961.2(WDR62):c.2566C>T (p.Arg856Cys)	WDR62 (R856C)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 437289	NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser)	WDR62 (G862S)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 160271	NM_001083961.2(WDR62):c.2584G>T (p.Gly862Cys)	WDR62 (G862C)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160272	NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter)	WDR62 (Y885*)	Single nucleotide variant (nonsense)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 195662	NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr)	WDR62 (M889T)	Single nucleotide variant (missense variant)	WDR62-related condition +3 more	GConflicting classifications of pathogenicity
Select item 160273	NM_001083961.2(WDR62):c.2782C>T (p.Leu928=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160274	NM_001083961.2(WDR62):c.2896G>A (p.Gly966Arg)	WDR62 (G966R)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160275	NM_001083961.2(WDR62):c.2945G>A (p.Ser982Asn)	WDR62 (S982N)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 328920	NM_001083961.2(WDR62):c.2972A>T (p.Asp991Val)	WDR62 (D991V)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GUncertain significance
Select item 160276	NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)	WDR62 (S992L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 195862	NM_001083961.2(WDR62):c.2976G>A (p.Ser992=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137910	NM_001083961.2(WDR62):c.2991C>T (p.Ala997=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 437292	NM_001083961.2(WDR62):c.3012_3034dup (p.Pro1012fs)	WDR62 (P1012fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 160278	NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 160279	NM_001083961.2(WDR62):c.3066G>A (p.Ser1022=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160281	NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 160283	NM_001083961.2(WDR62):c.3335+3A>G	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 160284	NM_001083961.2(WDR62):c.3336-5C>G	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 212603	NM_001083961.2(WDR62):c.3348del (p.Phe1117fs)	WDR62 (F1117fs +1 more)	Deletion (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 160285	NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg)	WDR62 (M1134R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 160286	NM_001083961.2(WDR62):c.3406C>G (p.Arg1136Gly)	WDR62 (R1136G +1 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160287	NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1336504	NM_001083961.2(WDR62):c.3469G>A (p.Ala1157Thr)	WDR62 (A1152T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +3 more	GUncertain significance
Select item 437291	NM_001083961.2(WDR62):c.3514+1G>A	WDR62	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 160289	NM_001083961.2(WDR62):c.3515-7G>A	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GConflicting classifications of pathogenicity
Select item 160290	NM_001083961.2(WDR62):c.3559G>A (p.Val1187Met)	WDR62 (V1187M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 160291	NM_001083961.2(WDR62):c.3573C>T (p.Asp1191=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160293	NM_001083961.2(WDR62):c.3611G>T (p.Gly1204Val)	WDR62 (G1204V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 212604	NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 160294	NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=)	WDR62	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 160295	NM_001083961.2(WDR62):c.3674G>A (p.Arg1225His)	WDR62 (R1225H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 160296	NM_001083961.2(WDR62):c.3698C>G (p.Ser1233Cys)	WDR62 (S1233C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196612	NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=)	WDR62	Single nucleotide variant (synonymous variant)	WDR62-related condition +3 more	GBenign/Likely benign
Select item 196613	NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)	WDR62 (A1271V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 93538	NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu)	WDR62 (Q1310L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GBenign
Select item 93539	NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu)	WDR62 (Q1316E +1 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GBenign/Likely benign
Select item 160297	NM_001083961.2(WDR62):c.3948G>A (p.Gln1316=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160298	NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser)	WDR62 (G1375S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 160300	NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile)	WDR62 (L1387I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 160301	NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe)	WDR62 (L1390F +1 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GBenign
Select item 212607	NM_001083961.2(WDR62):c.4187G>A (p.Arg1396His)	WDR62 (R1396H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 160302	NM_001083961.2(WDR62):c.4312-5T>G	WDR62	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 328933	NM_001083961.2(WDR62):c.4312T>A (p.Leu1438Met)	WDR62 (L1438M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 283789	NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 160303	NM_001083961.2(WDR62):c.4381T>G (p.Trp1461Gly)	WDR62 (W1461G +1 more)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 160242	NM_001083961.2(WDR62):c.*5G>A	WDR62	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity

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Items: 93