PIAS1[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +74 more	Copy number loss	See cases	GPathogenic
Select item 150252	GRCh38/hg38 15q23(chr15:67933759-68766493)x3	CALML4, CLN6 +23 more	Copy number gain	See cases	GLikely benign
Select item 1279465	NC_000015.10:g.68054211T>C	LOC130057378, PIAS1	Single nucleotide variant	not provided	GBenign
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 3212551	NM_016166.3(PIAS1):c.177A>C (p.Glu59Asp)	PIAS1 (E59D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787960	NM_016166.3(PIAS1):c.237C>T (p.Asn79=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2264736	NM_016166.3(PIAS1):c.280A>G (p.Ile94Val)	PIAS1 (I94V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376169	NM_016166.3(PIAS1):c.290T>A (p.Leu97His)	PIAS1 (L97H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212552	NM_016166.3(PIAS1):c.300T>G (p.Asp100Glu)	PIAS1 (D100E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 548644	NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu)	PIAS1 (S106L +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis	GLikely pathogenic
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 1221092	NM_016166.3(PIAS1):c.470-185_470-183del	PIAS1	Deletion (intron variant)	not provided	GBenign
Select item 1279301	NM_016166.3(PIAS1):c.470-72_470-71insG	PIAS1	Insertion (intron variant)	not provided	GBenign
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 1279140	NM_016166.3(PIAS1):c.693+166C>A	PIAS1	Single nucleotide variant (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 2356861	NM_016166.3(PIAS1):c.721G>A (p.Val241Met)	PIAS1 (V243M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212553	NM_016166.3(PIAS1):c.760T>A (p.Ser254Thr)	PIAS1 (S256T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279858	NM_016166.3(PIAS1):c.829-176G>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1271702	NM_016166.3(PIAS1):c.1009-58C>T	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1257108	NM_016166.3(PIAS1):c.1170-215G>C	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1953140	NM_016166.3(PIAS1):c.1170-19A>G	PIAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3212548	NM_016166.3(PIAS1):c.1289A>G (p.Asn430Ser)	PIAS1 (N432S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1241078	NM_016166.3(PIAS1):c.1301-117T>C	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 3306372	NM_016166.3(PIAS1):c.1361A>G (p.Asn454Ser)	PIAS1 (N456S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 provided	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 1289669	NM_016166.3(PIAS1):c.1624+116G>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178511	NM_016166.3(PIAS1):c.1624+198T>C	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2540261	NM_016166.3(PIAS1):c.1679T>C (p.Leu560Ser)	PIAS1 (L562S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475731	NM_016166.3(PIAS1):c.1694C>T (p.Ala565Val)	PIAS1 (A565V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255780	NM_016166.3(PIAS1):c.1709A>G (p.Asp570Gly)	PIAS1 (D572G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3306373	NM_016166.3(PIAS1):c.1745C>T (p.Pro582Leu)	PIAS1 (P584L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212549	NM_016166.3(PIAS1):c.1762A>G (p.Met588Val)	PIAS1 (M590V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2255039	NM_016166.3(PIAS1):c.1910C>T (p.Thr637Met)	PIAS1 (T639M +1 more)	Single nucleotide variant (missense variant)	not specified	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 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
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 1340344	GRCh37/hg19 15q23(chr15:68243109-68780504)x1	CALML4, CLN6 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815732	GRCh37/hg19 15q23(chr15:68168040-68348801)x1	PIAS1	Copy number loss	not provided	GUncertain significance
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 564212	GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1	AAGAB, ANP32A +13 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 81