Related gene-specific medical variations for Gene (Select 200232) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2528468	NM_001012971.4(FAM209A):c.340A>G (p.Asn114Asp)	FAM209A, GCNT7 (N114D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491441	NM_001013646.4(FAM209B):c.154A>G (p.Thr52Ala)	FAM209A, FAM209B (T52A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2485612	NM_001013646.4(FAM209B):c.176A>G (p.Lys59Arg)	FAM209A, FAM209B (K59R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458858	NM_001012971.4(FAM209A):c.98A>G (p.Gln33Arg)	FAM209A, GCNT7 (Q33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410810	NM_001012971.4(FAM209A):c.8C>T (p.Thr3Met)	FAM209A, GCNT7 (T3M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385893	NM_001012971.4(FAM209A):c.133C>T (p.Arg45Trp)	GCNT7, FAM209A (R45W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358762	NM_001012971.4(FAM209A):c.319C>T (p.Pro107Ser)	GCNT7, FAM209A (P107S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302932	NM_001013646.4(FAM209B):c.89G>T (p.Ser30Ile)	FAM209A, FAM209B (S30I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance