"GSR-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 771424	NM_000637.5(GSR):c.1500G>A (p.Thr500=)	GSR	Single nucleotide variant (synonymous variant)	GSR-related disorder +2 more	GBenign/Likely benign
Select item 2166157	NM_000637.5(GSR):c.1281G>A (p.Thr427=)	GSR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2057203	NM_000637.5(GSR):c.1098C>T (p.Asn366=)	GSR	Single nucleotide variant (synonymous variant)	GSR-related disorder +1 more	GBenign/Likely benign
Select item 769741	NM_000637.5(GSR):c.1069A>G (p.Ile357Val)	GSR (I328V +3 more)	Single nucleotide variant (missense variant)	GSR-related disorder +2 more	GBenign/Likely benign
Select item 3055359	NM_000637.5(GSR):c.1041+10C>A	GSR	Single nucleotide variant (intron variant)	GSR-related disorder	GLikely benign
Select item 810271	NM_000637.5(GSR):c.954A>T (p.Pro318=)	GSR	Single nucleotide variant (synonymous variant +1 more)	GSR-related disorder +1 more	GBenign/Likely benign
Select item 439766	NM_000637.5(GSR):c.696-10C>T	GSR	Single nucleotide variant (intron variant)	GSR-related disorder +2 more	GBenign
Select item 810272	NM_000637.5(GSR):c.694G>A (p.Gly232Ser)	GSR (G232S)	Single nucleotide variant (missense variant)	GSR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3040670	NM_000637.5(GSR):c.612C>T (p.Pro204=)	GSR	Single nucleotide variant (synonymous variant)	GSR-related disorder	GLikely benign
Select item 724845	NM_000637.5(GSR):c.531G>T (p.Thr177=)	GSR	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2213161	NM_000637.5(GSR):c.439C>T (p.Arg147Trp)	GSR (R147W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1333171	NM_000637.5(GSR):c.334-4dup	GSR	Duplication (intron variant)	Hemolytic anemia due to glutathione reductase deficiency +2 more	GBenign/Likely benign
Select item 3060464	NM_000637.5(GSR):c.334-5dup	GSR	Duplication (intron variant)	GSR-related disorder	GBenign
Select item 3050046	NM_000637.5(GSR):c.334-8_334-5del	GSR	Deletion (intron variant)	GSR-related disorder	GLikely benign
Select item 3037947	NM_000637.5(GSR):c.334-7_334-5del	GSR	Deletion (intron variant)	GSR-related disorder	GLikely benign
Select item 377268	NM_000637.5(GSR):c.334-5T>A	GSR	Single nucleotide variant (intron variant)	GSR-related disorder +1 more	GBenign/Likely benign
Select item 2075182	NM_000637.5(GSR):c.334-6T>A	GSR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 811569	NM_000637.5(GSR):c.261T>C (p.Gly87=)	GSR, LOC130000170	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 775262	NM_000637.5(GSR):c.43A>G (p.Ser15Gly)	GSR, LOC130000170 (S15G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign