C1858535[trait identifier] AND "Athena Diagnostics Inc"[submitter] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 160248	NM_001083961.2(WDR62):c.1470C>T (p.Asp490=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 160253	NM_001083961.2(WDR62):c.1643-10C>T	WDR62	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 160266	NM_001083961.2(WDR62):c.2334-6C>A	WDR62	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 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 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 160278	NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 160287	NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 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 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 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

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Items: 26