GSTZ1[gene] - ClinVar

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

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC130056647, LOC130056648 +1203 more	Copy number gain	See cases	GPathogenic
Select item 662860	NC_000014.8:g.(?_77743699)_(78082942_?)dup	AHSA1, GSTZ1 +25 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 3055011	NM_145870.3(GSTZ1):c.15+3C>G	GSTZ1	Single nucleotide variant (intron variant)	GSTZ1-related disorder	GLikely benign
Select item 3103005	NM_145870.3(GSTZ1):c.38G>A (p.Arg13Gln)	GSTZ1 (R14Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2280359	NM_145870.3(GSTZ1):c.65T>C (p.Ile22Thr)	GSTZ1 (I23T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 431043	NM_145870.3(GSTZ1):c.68-12G>A	GSTZ1	Single nucleotide variant (intron variant)	Maleylacetoacetate isomerase deficiency	GAffects
Select item 1251643	NM_145870.3(GSTZ1):c.94G>A (p.Glu32Lys)	GSTZ1 (E32K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	GSTZ1-related disorder +1 more	GBenign
Select item 2384672	NM_145870.3(GSTZ1):c.98C>T (p.Thr33Met)	GSTZ1 (T34M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3040046	NM_145870.3(GSTZ1):c.99G>A (p.Thr33=)	GSTZ1	Single nucleotide variant (5 prime UTR variant +1 more)	GSTZ1-related disorder	GLikely benign
Select item 2506395	NM_145870.3(GSTZ1):c.128del (p.Gly43fs)	GSTZ1 (G43fs +1 more)	Deletion (5 prime UTR variant +1 more)	Maleylacetoacetate isomerase deficiency	GLikely pathogenic
Select item 1234080	NM_145870.3(GSTZ1):c.124G>A (p.Gly42Arg)	GSTZ1 (G42R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	GSTZ1-related disorder +1 more	GBenign
Select item 2216507	NM_145870.3(GSTZ1):c.128G>T (p.Gly43Val)	GSTZ1 (G43V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 807427	NM_145870.3(GSTZ1):c.136-2A>G	GSTZ1	Single nucleotide variant (splice acceptor variant)	Maleylacetoacetate isomerase deficiency	GPathogenic
Select item 3103001	NM_145870.3(GSTZ1):c.174G>T (p.Gln58His)	GSTZ1 (Q58H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444067	NM_145870.3(GSTZ1):c.216+1G>A	GSTZ1	Single nucleotide variant (splice donor variant)	Maleylacetoacetate isomerase deficiency	GPathogenic
Select item 2240816	NM_145870.3(GSTZ1):c.220G>A (p.Ala74Thr)	GSTZ1 (A19T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2663453	NM_145870.3(GSTZ1):c.245T>C (p.Met82Thr)	GSTZ1 (M27T +2 more)	Single nucleotide variant (missense variant +1 more)	GSTZ1-related disorder +1 more	GBenign
Select item 3103002	NM_145870.3(GSTZ1):c.246G>A (p.Met82Ile)	GSTZ1 (M82I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103003	NM_145870.3(GSTZ1):c.257C>T (p.Pro86Leu)	GSTZ1 (P31L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 431042	NM_145870.3(GSTZ1):c.259C>T (p.Arg87Ter)	GSTZ1 (R87* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	Gother
Select item 431044	NM_145870.3(GSTZ1):c.295G>A (p.Val99Met)	GSTZ1 (V99M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2264874	NM_145870.3(GSTZ1):c.299G>A (p.Arg100His)	GSTZ1 (R101H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527218	NM_145870.3(GSTZ1):c.319G>A (p.Ala107Thr)	GSTZ1 (A107T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273491	NM_145870.3(GSTZ1):c.400G>A (p.Ala134Thr)	GSTZ1 (A134T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 431041	NM_145870.3(GSTZ1):c.449C>T (p.Ala150Val)	GSTZ1, LOC126862005 (A150V +3 more)	Single nucleotide variant (missense variant)	Maleylacetoacetate isomerase deficiency	GAffects
Select item 3283032	NM_145870.3(GSTZ1):c.467G>A (p.Gly156Glu)	GSTZ1, LOC126862005 (G156E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275669	NM_145870.3(GSTZ1):c.472G>A (p.Glu158Lys)	GSTZ1, LOC126862005 (E116K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276008	NM_145870.3(GSTZ1):c.475-12G>A	GSTZ1, LOC126862005	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3103006	NM_145870.3(GSTZ1):c.532G>T (p.Val178Leu)	GSTZ1 (V179L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056016	NM_145870.3(GSTZ1):c.565A>G (p.Ile189Val)	GSTZ1 (I134V +3 more)	Single nucleotide variant (missense variant)	GSTZ1-related disorder	GLikely benign
Select item 3057479	NM_145870.3(GSTZ1):c.584T>C (p.Val195Ala)	GSTZ1 (V140A +3 more)	Single nucleotide variant (missense variant)	GSTZ1-related disorder	GLikely benign
Select item 3103007	NM_145870.3(GSTZ1):c.599A>C (p.Gln200Pro)	GSTZ1 (Q200P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1446699	NC_000014.8:g.(?_77743719)_(78082922_?)del	AHSA1, GSTZ1 +7 more	Deletion	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 564094	GRCh37/hg19 14q24.3(chr14:77692709-77801431)x1	TMEM63C, NGB +2 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441709	GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	ADCK1, AHSA1 +27 more	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	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

Search results

Items: 50