"Invitae"[submitter] AND "GSR"[gene] - ClinVar

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Items: 51

	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 condition +2 more	GBenign/Likely benign
Select item 1913855	NM_000637.5(GSR):c.1419+20A>G	GSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745645	NM_000637.5(GSR):c.1356C>T (p.His452=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726081	NM_000637.5(GSR):c.1317T>C (p.Asn439=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2176375	NM_000637.5(GSR):c.1294A>G (p.Ile432Val)	GSR (I403V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 796268	NM_000637.5(GSR):c.1285+7A>G	GSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2166157	NM_000637.5(GSR):c.1281G>A (p.Thr427=)	GSR	Single nucleotide variant (synonymous variant)	GSR-related condition +1 more	GLikely benign
Select item 2959412	NM_000637.5(GSR):c.1267A>G (p.Thr423Ala)	GSR (T341A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745646	NM_000637.5(GSR):c.1116A>C (p.Ala372=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057203	NM_000637.5(GSR):c.1098C>T (p.Asn366=)	GSR	Single nucleotide variant (synonymous variant)	GSR-related condition +1 more	GBenign/Likely benign
Select item 2072994	NM_000637.5(GSR):c.1080C>T (p.Asp360=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972150	NM_000637.5(GSR):c.1074C>T (p.Ile358=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769741	NM_000637.5(GSR):c.1069A>G (p.Ile357Val)	GSR (I328V +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency +2 more	GBenign/Likely benign
Select item 740252	NM_000637.5(GSR):c.1062G>A (p.Lys354=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957344	NM_000637.5(GSR):c.954A>C (p.Pro318=)	GSR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 810271	NM_000637.5(GSR):c.954A>T (p.Pro318=)	GSR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2683005	NM_000637.5(GSR):c.943G>A (p.Gly315Ser)	GSR (G286S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 795899	NM_000637.5(GSR):c.882+6G>A	GSR	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 618149	NM_000637.5(GSR):c.866T>C (p.Val289Ala)	GSR (V289A)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1330556	NM_000637.5(GSR):c.859G>A (p.Val287Met)	GSR (V287M)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to glutathione reductase deficiency +1 more	GUncertain significance
Select item 1946181	NM_000637.5(GSR):c.855T>C (p.Ala285=)	GSR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897111	NM_000637.5(GSR):c.852C>T (p.Asn284=)	GSR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168686	NM_000637.5(GSR):c.796-3C>G	GSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918384	NM_000637.5(GSR):c.703G>A (p.Val235Ile)	GSR (V235I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767462	NM_000637.5(GSR):c.702C>T (p.Ser234=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 993877	NM_000637.5(GSR):c.698G>A (p.Arg233His)	GSR (R233H)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency +1 more	GUncertain significance
Select item 811894	NM_000637.5(GSR):c.697C>T (p.Arg233Cys)	GSR (R233C)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency +2 more	GUncertain significance
Select item 439766	NM_000637.5(GSR):c.696-10C>T	GSR	Single nucleotide variant (intron variant)	Hemolytic anemia due to glutathione reductase deficiency +2 more	GBenign
Select item 810272	NM_000637.5(GSR):c.694G>A (p.Gly232Ser)	GSR (G232S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2069615	NM_000637.5(GSR):c.691C>G (p.Pro231Ala)	GSR (P231A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1411654	NM_000637.5(GSR):c.648C>G (p.Ser216Arg)	GSR (S216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730931	NM_000637.5(GSR):c.595G>A (p.Ala199Thr)	GSR (A199T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2057099	NM_000637.5(GSR):c.531G>A (p.Thr177=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724845	NM_000637.5(GSR):c.531G>T (p.Thr177=)	GSR	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to glutathione reductase deficiency +2 more	GLikely benign
Select item 1693976	NM_000637.5(GSR):c.493-18T>G	GSR	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1912808	NM_000637.5(GSR):c.492+9G>A	GSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 810945	NM_000637.5(GSR):c.457C>T (p.Arg153Cys)	GSR (R153C)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency +1 more	GBenign
Select item 2818541	NM_000637.5(GSR):c.422+3_422+6del	GSR	Deletion (splice donor variant)	not provided	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 377268	NM_000637.5(GSR):c.334-5T>A	GSR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2075182	NM_000637.5(GSR):c.334-6T>A	GSR	Single nucleotide variant (intron variant)	GSR-related condition +1 more	GBenign/Likely benign
Select item 2719151	NM_000637.5(GSR):c.306+14G>C	GSR, LOC130000170	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977247	NM_000637.5(GSR):c.306+13G>A	GSR, LOC130000170	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706760	NM_000637.5(GSR):c.267G>A (p.Arg89=)	GSR, LOC130000170	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 811569	NM_000637.5(GSR):c.261T>C (p.Gly87=)	GSR, LOC130000170	Single nucleotide variant (synonymous variant)	GSR-related condition +2 more	GBenign
Select item 2903892	NM_000637.5(GSR):c.250G>A (p.Ala84Thr)	GSR, LOC130000170 (A84T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 811570	NM_000637.5(GSR):c.189C>T (p.Ala63=)	GSR, LOC130000170	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to glutathione reductase deficiency +1 more	GBenign
Select item 1907053	NM_000637.5(GSR):c.99C>T (p.Pro33=)	GSR, LOC130000170	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053312	NM_000637.5(GSR):c.59C>T (p.Ala20Val)	GSR, LOC130000170 (A20V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775262	NM_000637.5(GSR):c.43A>G (p.Ser15Gly)	GSR, LOC130000170 (S15G)	Single nucleotide variant (missense variant)	GSR-related condition +2 more	GBenign
Select item 618147	NM_000637.5(GSR):c.41C>A (p.Pro14Gln)	GSR, LOC130000170 (P14Q)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency +1 more	GBenign

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Items: 51