ClinVar for Gene (Select 8554) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2989378	NM_016166.3(PIAS1):c.1618T>C (p.Leu540=)	PIAS1	Single nucleotide variant (synonymous 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 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 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 2805153	NM_016166.3(PIAS1):c.9C>T (p.Asp3=)	LOC130057378, 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 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 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
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 2426275	NC_000015.9:g.(?_68445908)_(68469012_?)dup	PIAS1	Duplication	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 2415889	NM_016166.3(PIAS1):c.1074C>T (p.Asp358=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 2190365	NM_016166.3(PIAS1):c.1128C>A (p.Val376=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2158571	NM_016166.3(PIAS1):c.1392A>C (p.Ile464=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099839	NM_016166.3(PIAS1):c.1663-5C>T	PIAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069838	NM_016166.3(PIAS1):c.1731G>C (p.Ser577=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1953140	NM_016166.3(PIAS1):c.1170-19A>G	PIAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920164	NM_016166.3(PIAS1):c.1482-17A>T	PIAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904609	NM_016166.3(PIAS1):c.1950G>A (p.Leu650=)	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 1643727	NM_016166.3(PIAS1):c.829-5dup	PIAS1	Duplication (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 1629398	NM_016166.3(PIAS1):c.1481+28dup	PIAS1	Duplication (intron variant)	not provided	GBenign
Select item 1622990	NM_016166.3(PIAS1):c.693+23dup	PIAS1	Duplication (intron 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 1564624	NM_016166.3(PIAS1):c.1300+19G>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1563059	NM_016166.3(PIAS1):c.318G>A (p.Ser106=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1562813	NM_016166.3(PIAS1):c.312A>C (p.Ala104=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559706	NM_016166.3(PIAS1):c.999A>G (p.Leu333=)	PIAS1	Single nucleotide variant (synonymous 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 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 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
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 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 1467784	NM_016166.3(PIAS1):c.1640_1644del (p.Pro547fs)	PIAS1 (P549fs +1 more)	Microsatellite (frameshift variant)	not provided	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 1340344	GRCh37/hg19 15q23(chr15:68243109-68780504)x1	CALML4, CLN6 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1289669	NM_016166.3(PIAS1):c.1624+116G>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279858	NM_016166.3(PIAS1):c.829-176G>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279465	NC_000015.10:g.68054211T>C	LOC130057378, PIAS1	Single nucleotide 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 1279140	NM_016166.3(PIAS1):c.693+166C>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271702	NM_016166.3(PIAS1):c.1009-58C>T	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257108	NM_016166.3(PIAS1):c.1170-215G>C	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 1241078	NM_016166.3(PIAS1):c.1301-117T>C	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221092	NM_016166.3(PIAS1):c.470-185_470-183del	PIAS1	Deletion (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 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 787960	NM_016166.3(PIAS1):c.237C>T (p.Asn79=)	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 716410	NM_016166.3(PIAS1):c.78C>T (p.Ala26=)	PIAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 548644	NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu)	PIAS1 (S106L +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis	GLikely pathogenic
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
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 150252	GRCh38/hg38 15q23(chr15:67933759-68766493)x3	CALML4, CLN6 +23 more	Copy number gain	See cases	GLikely benign
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +74 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 81