GSTZ1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +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	ESRRB, EVL +1421 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	ADCK1, ADSS1 +1202 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 condition	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 condition +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 condition	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 condition +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)	not provided +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 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 condition	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 condition	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 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +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)	ABCD4, ABHD12B +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	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 48