ClinVar for Gene (Select 2950) - ClinVar

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

Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102993	NM_000852.4(GSTP1):c.55C>G (p.Arg19Gly)	GSTP1 (R19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102992	NM_000852.4(GSTP1):c.484A>C (p.Ile162Leu)	GSTP1 (I162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2597562	NM_000852.4(GSTP1):c.520T>A (p.Phe174Ile)	GSTP1 (F174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509386	NM_000852.4(GSTP1):c.197C>A (p.Ser66Tyr)	GSTP1 (S66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425686	NC_000011.9:g.(?_67351315)_(67379929_?)dup	GSTP1, NDUFV1 +1 more	Duplication	not provided	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2260856	NM_000852.4(GSTP1):c.454G>A (p.Ala152Thr)	GSTP1 (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1895444	NM_000852.4(GSTP1):c.341= (p.Ala114=)	GSTP1	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1895443	NM_000852.4(GSTP1):c.313= (p.Ile105=)	GSTP1	Variation (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1297979	NM_000852.4(GSTP1):c.232+13C>A	GSTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288111	NM_000852.4(GSTP1):c.445-16C>T	GSTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282703	NM_000852.4(GSTP1):c.2-74G>A	GSTP1, LOC130006213	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281843	NM_000852.4(GSTP1):c.555T>C (p.Ser185=)	GSTP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1274780	NC_000011.10:g.67583354_67583356dup	GSTP1	Duplication	not provided	GBenign
Select item 1274091	NM_000852.4(GSTP1):c.2-65A>G	GSTP1, LOC130006213	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269062	NM_000852.4(GSTP1):c.150C>T (p.Tyr50=)	GSTP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1268290	NM_000852.4(GSTP1):c.2-20C>G	GSTP1, LOC130006213	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264275	NM_000852.4(GSTP1):c.341C>T (p.Ala114Val)	GSTP1 (A114V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1253210	NM_000852.4(GSTP1):c.337-322G>A	GSTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252245	NC_000011.10:g.67583317_67583321del	GSTP1	Deletion	not provided	GBenign
Select item 1249154	NC_000011.10:g.67583528C>A	GSTP1	Single nucleotide variant	not provided	GBenign
Select item 1247469	NC_000011.10:g.67583344_67583346dup	GSTP1	Duplication	not provided	GBenign
Select item 1246555	NM_000852.4(GSTP1):c.-18G>A	GSTP1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1242583	NC_000011.10:g.67583319C>T	GSTP1	Single nucleotide variant	not provided	GBenign
Select item 1240658	NC_000011.10:g.67583533C>T	GSTP1	Single nucleotide variant	not provided	GBenign
Select item 1237952	NC_000011.10:g.67583461G>T	GSTP1	Single nucleotide variant	not provided	GBenign
Select item 1231848	NC_000011.10:g.67583317C>A	GSTP1	Single nucleotide variant	not provided	GBenign
Select item 1180407	NM_000852.4(GSTP1):c.37+134C>T	GSTP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 747436	NM_000852.4(GSTP1):c.519G>A (p.Ala173=)	GSTP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 496691	NM_000852.4(GSTP1):c.336+79_336+80delinsCA	GSTP1	Indel (intron variant)	Kala-azar susceptibility 2	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 37340	NM_000852.4(GSTP1):c.313A>G (p.Ile105Val)	GSTP1 (I105V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 16493	NM_000852.4(GSTP1):c.[313A>G;341C>T]	GSTP1 (I105V +1 more)	Single nucleotide variant (missense variant)	GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE C	GBenign
Select item 16492	NM_000852.4(GSTP1):c.[313A>G;341=]	GSTP1 (I105V)	Single nucleotide variant (missense variant +1 more)	GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE B	GBenign
Select item 16491	NM_000852.4(GSTP1):c.[313=;341=]	GSTP1	Variation (no sequence alteration)	GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE A	GBenign

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: 50