Related gene-specific medical variations for Gene (Select 56006) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166551	NM_019108.4(SMG9):c.248C>T (p.Thr83Ile)	LOC130064611, SMG9 (T83I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526691	NM_019108.4(SMG9):c.251C>A (p.Ala84Asp)	LOC130064611, SMG9 (A84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436203	NM_019108.4(SMG9):c.611T>A (p.Val204Glu)	SMG9 (V204E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436202	NM_019108.4(SMG9):c.109C>T (p.Arg37Trp)	SMG9 (R37W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436201	NM_019108.4(SMG9):c.106G>A (p.Gly36Ser)	SMG9 (G36S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2309815	NM_019108.4(SMG9):c.308C>T (p.Pro103Leu)	LOC130064611, SMG9 (P103L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252958	NM_019108.4(SMG9):c.247A>G (p.Thr83Ala)	LOC130064611, SMG9 (T83A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229592	NM_019108.4(SMG9):c.226-3T>C	LOC130064611, SMG9	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 987257	NM_019108.4(SMG9):c.610dup (p.Val204fs)	SMG9 (V204fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 755327	NM_019108.4(SMG9):c.226-5C>T	SMG9, LOC130064611	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735664	NM_019108.4(SMG9):c.336C>T (p.Ala112=)	LOC130064611, SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign