Related gene-specific medical variations for Gene (Select 126861459) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102906	NM_001080555.4(GSG1):c.902G>A (p.Arg301Gln)	GSG1, LOC126861459 (R237Q +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3102898	NM_001080555.4(GSG1):c.1002C>T (p.Ser334=)	GSG1, LOC126861459	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2618903	NM_001080555.4(GSG1):c.1016A>G (p.Lys339Arg)	GSG1, LOC126861459 (K275R +8 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2511321	NM_001080555.4(GSG1):c.782C>T (p.Ser261Leu)	GSG1, LOC126861459 (R304W +9 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2387767	NM_001080555.4(GSG1):c.901C>T (p.Arg301Trp)	GSG1, LOC126861459 (R265W +8 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2316153	NM_001080555.4(GSG1):c.946C>T (p.His316Tyr)	GSG1, LOC126861459 (H303Y +8 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2282365	NM_001080555.4(GSG1):c.860A>G (p.Asn287Ser)	GSG1, LOC126861459 (N264S +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2227840	NM_001080555.4(GSG1):c.899G>A (p.Arg300Gln)	GSG1, LOC126861459 (G343S +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2211395	NM_001080555.4(GSG1):c.803C>T (p.Thr268Met)	GSG1, LOC126861459 (T232M +9 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance