C4310794[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1532344	NM_001127178.3(PIGG):c.4C>A (p.Arg2=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1358866	NM_001127178.3(PIGG):c.8T>G (p.Leu3Arg)	PIGG (L3R)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1505565	NM_001127178.3(PIGG):c.14C>A (p.Ser5Tyr)	PIGG (S5Y)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2188777	NM_001127178.3(PIGG):c.17G>A (p.Gly6Glu)	PIGG (G6E)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1033298	NM_001127178.3(PIGG):c.23T>C (p.Phe8Ser)	PIGG (F8S)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 772758	NM_001127178.3(PIGG):c.24C>G (p.Phe8Leu)	PIGG (F8L)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2009995	NM_001127178.3(PIGG):c.29C>A (p.Thr10Asn)	PIGG (T10N)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2701441	NM_001127178.3(PIGG):c.30C>T (p.Thr10=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2032420	NM_001127178.3(PIGG):c.33T>C (p.Cys11=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2051118	NM_001127178.3(PIGG):c.35G>A (p.Cys12Tyr)	PIGG (C12Y)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GUncertain significance
Select item 1360848	NM_001127178.3(PIGG):c.35G>C (p.Cys12Ser)	PIGG (C12S)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2894062	NM_001127178.3(PIGG):c.36C>T (p.Cys12=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2057523	NM_001127178.3(PIGG):c.39A>G (p.Val13=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 476350	NM_001127178.3(PIGG):c.42G>T (p.Ala14=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 657129	NM_001127178.3(PIGG):c.44T>C (p.Ile15Thr)	PIGG (I15T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2147953	NM_001127178.3(PIGG):c.47A>C (p.Glu16Ala)	PIGG (E16A)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 840539	NM_001127178.3(PIGG):c.58A>G (p.Ile20Val)	PIGG (I20V)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1670182	NM_001127178.3(PIGG):c.66C>T (p.Val22=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 860858	NM_001127178.3(PIGG):c.77G>T (p.Gly26Val)	PIGG (G26V)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 945713	NM_001127178.3(PIGG):c.85C>G (p.Pro29Ala)	PIGG (P29A)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GUncertain significance
Select item 659844	NM_001127178.3(PIGG):c.94G>T (p.Val32Phe)	PIGG (V32F)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2967926	NM_001127178.3(PIGG):c.102C>A (p.Ser34=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2970276	NM_001127178.3(PIGG):c.105T>C (p.Ser35=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1420171	NM_001127178.3(PIGG):c.106G>A (p.Ala36Thr)	PIGG (A36T)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1086321	NM_001127178.3(PIGG):c.108C>T (p.Ala36=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 949386	NM_001127178.3(PIGG):c.110G>C (p.Arg37Thr)	PIGG (R37T)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1141756	NM_001127178.3(PIGG):c.114G>A (p.Ala38=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 941877	NM_001127178.3(PIGG):c.120C>G (p.His40Gln)	PIGG (H40Q)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 652187	NM_001127178.3(PIGG):c.121G>A (p.Gly41Arg)	PIGG (G41R)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GUncertain significance
Select item 1496399	NM_001127178.3(PIGG):c.129G>T (p.Glu43Asp)	PIGG (E43D)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2050212	NM_001127178.3(PIGG):c.131C>G (p.Pro44Arg)	PIGG (P44R)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1385863	NM_001127178.3(PIGG):c.131C>A (p.Pro44His)	PIGG (P44H)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GUncertain significance
Select item 1592753	NM_001127178.3(PIGG):c.135A>C (p.Pro45=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1131640	NM_001127178.3(PIGG):c.138G>A (p.Ala46=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1404160	NM_001127178.3(PIGG):c.145C>T (p.Pro49Ser)	PIGG (P49S)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GUncertain significance
Select item 1999826	NM_001127178.3(PIGG):c.147C>G (p.Pro49=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1044736	NM_001127178.3(PIGG):c.149C>T (p.Ser50Leu)	PIGG (S50L)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2082650	NM_001127178.3(PIGG):c.151G>T (p.Ala51Ser)	PIGG (A51S)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2756301	NM_001127178.3(PIGG):c.154+2T>C	PIGG	Single nucleotide variant (5 prime UTR variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely pathogenic
Select item 1507451	NM_001127178.3(PIGG):c.154+6G>C	PIGG	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1658800	NM_001127178.3(PIGG):c.154+11dup	PIGG	Duplication (5 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 53	GBenign
Select item 2803201	NM_001127178.3(PIGG):c.154+13C>T	PIGG	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2704716	NM_001127178.3(PIGG):c.154+16C>A	PIGG	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2065500	NM_001127178.3(PIGG):c.154+16C>T	PIGG	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1640730	NM_001127178.3(PIGG):c.154+18G>A	PIGG	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1663567	NM_001127178.3(PIGG):c.154+20G>C	PIGG	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1609064	NM_001127178.3(PIGG):c.155-20T>A	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2817986	NM_001127178.3(PIGG):c.155-19T>A	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1559594	NM_001127178.3(PIGG):c.155-16T>C	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1367527	NM_001127178.3(PIGG):c.155-15C>A	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2883102	NM_001127178.3(PIGG):c.155-9_155-6del	PIGG	Deletion (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2164674	NM_001127178.3(PIGG):c.155-7C>T	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 799553	NM_001127178.3(PIGG):c.155-6A>G	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1482752	NM_001127178.3(PIGG):c.155-4T>G	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 376911	NM_001127178.3(PIGG):c.158C>A (p.Ala53Asp)	PIGG (A53D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 476325	NM_001127178.3(PIGG):c.164C>G (p.Ser55Cys)	PIGG (S55C)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 445328	NM_001127178.3(PIGG):c.164C>A (p.Ser55Tyr)	PIGG (S55Y)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53 +1 more	GBenign/Likely benign
Select item 1577322	NM_001127178.3(PIGG):c.165T>A (p.Ser55=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53 +1 more	GLikely benign
Select item 569784	NM_001127178.3(PIGG):c.166A>G (p.Asn56Asp)	PIGG (N56D)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2025003	NM_001127178.3(PIGG):c.177G>A (p.Thr59=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2076700	NM_001127178.3(PIGG):c.178C>G (p.Leu60Val)	PIGG (L60V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1405748	NM_001127178.3(PIGG):c.182C>G (p.Pro61Arg)	PIGG (P61R)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1004968	NM_001127178.3(PIGG):c.184C>T (p.Pro62Ser)	PIGG (P62S)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 53 +1 more	GConflicting classifications of pathogenicity
Select item 1953917	NM_001127178.3(PIGG):c.190C>T (p.Leu64Phe)	PIGG (L64F)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2047309	NM_001127178.3(PIGG):c.192C>T (p.Leu64=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1579730	NM_001127178.3(PIGG):c.192C>A (p.Leu64=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1364801	NM_001127178.3(PIGG):c.211G>A (p.Val71Ile)	PIGG (V71I)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 939735	NM_001127178.3(PIGG):c.214C>G (p.Leu72Val)	PIGG (L72V)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1403832	NM_001127178.3(PIGG):c.218T>C (p.Ile73Thr)	PIGG (I73T)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1405466	NM_001127178.3(PIGG):c.220G>C (p.Asp74His)	PIGG (D74H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2173249	NM_001127178.3(PIGG):c.221A>G (p.Asp74Gly)	PIGG (D74G)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2969356	NM_001127178.3(PIGG):c.225C>T (p.Ala75=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 864305	NM_001127178.3(PIGG):c.228G>T (p.Leu76Phe)	PIGG (L76F)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 573003	NM_001127178.3(PIGG):c.241G>T (p.Val81Leu)	PIGG (V81L)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 476337	NM_001127178.3(PIGG):c.244T>C (p.Phe82Leu)	PIGG (F82L)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 648742	NM_001127178.3(PIGG):c.251C>T (p.Ser84Leu)	PIGG (S84L)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2149063	NM_001127178.3(PIGG):c.256G>T (p.Gly86Cys)	PIGG (G86C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2069958	NM_001127178.3(PIGG):c.256G>A (p.Gly86Ser)	PIGG (G86S)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2068151	NM_001127178.3(PIGG):c.263A>T (p.Lys88Ile)	PIGG (K88I)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 749101	NM_001127178.3(PIGG):c.277A>G (p.Thr93Ala)	PIGG (T4A +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2135940	NM_001127178.3(PIGG):c.286C>G (p.Leu96Val)	PIGG (L96V +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2184277	NM_001127178.3(PIGG):c.292G>A (p.Glu98Lys)	PIGG (E9K +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1470780	NM_001127178.3(PIGG):c.295A>G (p.Lys99Glu)	PIGG (K99E +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1485704	NM_001127178.3(PIGG):c.296A>C (p.Lys99Thr)	PIGG (K10T +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1023808	NM_001127178.3(PIGG):c.302C>G (p.Ala101Gly)	PIGG (A101G +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1033709	NM_001127178.3(PIGG):c.305C>A (p.Ser102Tyr)	PIGG (S13Y +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1069220	NM_001127178.3(PIGG):c.309_310del (p.His103fs)	PIGG (H103fs +1 more)	Microsatellite (frameshift variant +2 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 1628596	NM_001127178.3(PIGG):c.315T>C (p.Phe105=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2842521	NM_001127178.3(PIGG):c.318G>A (p.Val106=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1035933	NM_001127178.3(PIGG):c.337A>G (p.Thr113Ala)	PIGG (T113A +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 280494	NM_001127178.3(PIGG):c.342dup (p.Thr115fs)	PIGG (T26fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2040944	NM_001127178.3(PIGG):c.341T>G (p.Val114Gly)	PIGG (V114G +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1674231	NM_001127178.3(PIGG):c.342T>C (p.Val114=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2123418	NM_001127178.3(PIGG):c.351T>C (p.Pro117=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 1458529	NM_001127178.3(PIGG):c.352C>T (p.Arg118Ter)	PIGG (R118* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 1906100	NM_001127178.3(PIGG):c.358A>G (p.Lys120Glu)	PIGG (K31E +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2011045	NM_001127178.3(PIGG):c.360+8T>A	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 726408	NM_001127178.3(PIGG):c.361-10C>T	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2004431	NM_001127178.3(PIGG):c.361-8G>A	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 779832	NM_001127178.3(PIGG):c.361-8G>T	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GBenign

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