"GeneDx"[submitter] AND "GSS"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 338290	NM_000178.4(GSS):c.*90A>G	GSS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 896741	NM_000178.4(GSS):c.*20G>C	GSS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 518006	NM_000178.4(GSS):c.1362C>T (p.Ile454=)	GSS	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 388152	NM_000178.4(GSS):c.1302-3T>C	GSS	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1247699	NM_000178.4(GSS):c.1301+193C>A	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232487	NM_000178.4(GSS):c.1301+190T>C	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680913	NM_000178.4(GSS):c.1301+14G>C	GSS	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 424539	NM_000178.4(GSS):c.1159A>C (p.Lys387Gln)	GSS (K387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237669	NM_000178.4(GSS):c.1112-223_1112-221del	GSS	Microsatellite (intron variant)	not provided	GBenign
Select item 513605	NM_000178.4(GSS):c.1056C>T (p.Ala352=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency +1 more	GLikely benign
Select item 1329673	NM_000178.4(GSS):c.1030-118T>C	GSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668330	NM_000178.4(GSS):c.1029+4C>T	GSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383044	NM_000178.4(GSS):c.981T>C (p.Ala327=)	GSS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 338298	NM_000178.4(GSS):c.957G>A (p.Met319Ile)	GSS (M319I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 8530	NM_000178.4(GSS):c.941C>T (p.Pro314Leu)	GSS (P314L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1181524	NM_000178.4(GSS):c.834+224C>A	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296476	NM_000178.4(GSS):c.834+119G>A	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338299	NM_000178.4(GSS):c.834+4G>C	GSS	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 514272	NM_000178.4(GSS):c.816T>G (p.Pro272=)	GSS	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 338300	NM_000178.4(GSS):c.768-3C>T	GSS	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1250148	NM_000178.4(GSS):c.768-76C>T	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 631873	NM_000178.4(GSS):c.754C>T (p.Arg252Ter)	GSS (R252*)	Single nucleotide variant (nonsense)	Inherited glutathione synthetase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 798240	NM_000178.4(GSS):c.707G>A (p.Arg236Gln)	GSS (R236Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3253384	NM_000178.4(GSS):c.661C>T (p.Arg221Cys)	GSS (R221C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8531	NM_000178.4(GSS):c.656A>G (p.Asp219Gly)	GSS (D219G)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency +1 more	GPathogenic
Select item 2497893	NM_000178.4(GSS):c.574del (p.Ile192fs)	GSS (I192fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1224925	NM_000178.4(GSS):c.492-134A>C	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 8525	NM_000178.4(GSS):c.491G>A (p.Arg164Gln)	GSS (R164Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 382364	NM_000178.4(GSS):c.468C>T (p.Ala156=)	GSS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 508203	NM_000178.4(GSS):c.462C>T (p.Gly154=)	GSS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 392115	NM_000178.4(GSS):c.399C>T (p.Ser133=)	GSS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1282749	NM_000178.4(GSS):c.275+272dup	GSS	Duplication (intron variant)	not provided	GBenign
Select item 1294215	NM_000178.4(GSS):c.275+68C>T	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282953	NM_000178.4(GSS):c.275+26G>A	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255474	NM_000178.4(GSS):c.275+20T>G	GSS	Single nucleotide variant (intron variant)	Glutathione synthetase deficiency with 5-oxoprolinuria +4 more	GBenign
Select item 513494	NM_000178.4(GSS):c.246C>T (p.Asn82=)	GSS	Single nucleotide variant (synonymous variant)	Inherited glutathione synthetase deficiency +2 more	GLikely benign
Select item 1229374	NM_000178.4(GSS):c.129+1856C>T	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272521	NM_000178.4(GSS):c.129+1612T>C	GSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208585	NM_000178.4(GSS):c.129+1542C>T	GSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 430452	NM_000178.4(GSS):c.3G>A (p.Met1Ile)	GSS (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1202215	NM_000178.4(GSS):c.-9+101G>C	GSS, LOC130065740	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 338303	NM_000178.4(GSS):c.-16G>A	GSS	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 384568	NM_000178.4(GSS):c.-28C>A	GSS	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 338306	NM_000178.4(GSS):c.-46A>G	GSS	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 45