"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PIAS1"[ - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2805153	NM_016166.3(PIAS1):c.9C>T (p.Asp3=)	LOC130057378, PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716410	NM_016166.3(PIAS1):c.78C>T (p.Ala26=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787960	NM_016166.3(PIAS1):c.237C>T (p.Asn79=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2032589	NM_016166.3(PIAS1):c.307C>A (p.Pro103Thr)	PIAS1 (P105T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562813	NM_016166.3(PIAS1):c.312A>C (p.Ala104=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563059	NM_016166.3(PIAS1):c.318G>A (p.Ser106=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782599	NM_016166.3(PIAS1):c.396C>G (p.Val132=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1597974	NM_016166.3(PIAS1):c.402G>A (p.Pro134=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1657370	NM_016166.3(PIAS1):c.470-8T>G	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1640817	NM_016166.3(PIAS1):c.554+11G>C	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1622990	NM_016166.3(PIAS1):c.693+23dup	PIAS1	Duplication (intron variant)	not provided	GBenign
Select item 2812383	NM_016166.3(PIAS1):c.695G>T (p.Gly232Val)	PIAS1 (G234V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242633	NM_016166.3(PIAS1):c.829-16T>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1643727	NM_016166.3(PIAS1):c.829-5dup	PIAS1	Duplication (intron variant)	not provided	GBenign
Select item 1559706	NM_016166.3(PIAS1):c.999A>G (p.Leu333=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415889	NM_016166.3(PIAS1):c.1074C>T (p.Asp358=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190365	NM_016166.3(PIAS1):c.1128C>A (p.Val376=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805498	NM_016166.3(PIAS1):c.1153C>A (p.His385Asn)	PIAS1 (H387N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953140	NM_016166.3(PIAS1):c.1170-19A>G	PIAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1555205	NM_016166.3(PIAS1):c.1293A>G (p.Gly431=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1973318	NM_016166.3(PIAS1):c.1297G>A (p.Asp433Asn)	PIAS1 (D435N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564624	NM_016166.3(PIAS1):c.1300+19G>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1539043	NM_016166.3(PIAS1):c.1334C>T (p.Ala445Val)	PIAS1 (A445V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2158571	NM_016166.3(PIAS1):c.1392A>C (p.Ile464=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629398	NM_016166.3(PIAS1):c.1481+28dup	PIAS1	Duplication (intron variant)	not provided	GBenign
Select item 1920164	NM_016166.3(PIAS1):c.1482-17A>T	PIAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966223	NM_016166.3(PIAS1):c.1499A>C (p.His500Pro)	PIAS1 (H502P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2419625	NM_016166.3(PIAS1):c.1520G>A (p.Arg507His)	PIAS1 (R507H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495628	NM_016166.3(PIAS1):c.1588C>G (p.Pro530Ala)	PIAS1 (P532A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989378	NM_016166.3(PIAS1):c.1618T>C (p.Leu540=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467784	NM_016166.3(PIAS1):c.1640_1644del (p.Pro547fs)	PIAS1 (P549fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2099839	NM_016166.3(PIAS1):c.1663-5C>T	PIAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1415814	NM_016166.3(PIAS1):c.1730C>T (p.Ser577Leu)	PIAS1 (S577L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069838	NM_016166.3(PIAS1):c.1731G>C (p.Ser577=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750925	NM_016166.3(PIAS1):c.1869A>G (p.Glu623=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1505490	NM_016166.3(PIAS1):c.1874A>G (p.His625Arg)	PIAS1 (H627R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175828	NM_016166.3(PIAS1):c.1904C>T (p.Thr635Met)	PIAS1 (T635M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904609	NM_016166.3(PIAS1):c.1950G>A (p.Leu650=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2426275	NC_000015.9:g.(?_68445908)_(68469012_?)dup	PIAS1	Duplication	not provided	GUncertain significance
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance

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Items: 41