Related gene-specific medical variations for Gene (Select 23196) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277123	NM_198841.4(FAM120AOS):c.498C>G (p.Ser166Arg)	FAM120A, FAM120AOS (S166R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277122	NM_198841.4(FAM120AOS):c.468G>C (p.Leu156Phe)	FAM120A, FAM120AOS (L156F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277121	NM_198841.4(FAM120AOS):c.462C>G (p.Cys154Trp)	FAM120A, FAM120AOS (C154W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277120	NM_198841.4(FAM120AOS):c.393T>G (p.Phe131Leu)	FAM120A, FAM120AOS (F131L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3277119	NM_198841.4(FAM120AOS):c.190T>C (p.Ser64Pro)	FAM120A, FAM120AOS +1 more (S64P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277118	NM_198841.4(FAM120AOS):c.20T>C (p.Ile7Thr)	FAM120A, FAM120AOS (I7T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091739	NM_198841.4(FAM120AOS):c.304C>G (p.Arg102Gly)	FAM120A, FAM120AOS +1 more (R102G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091738	NM_198841.4(FAM120AOS):c.163A>G (p.Ile55Val)	FAM120A, FAM120AOS +1 more (I55V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615854	NM_198841.4(FAM120AOS):c.194G>A (p.Arg65Gln)	FAM120A, FAM120AOS +1 more (R65Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553974	NM_198841.4(FAM120AOS):c.492C>A (p.Phe164Leu)	FAM120A, FAM120AOS (E101D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533054	NM_014612.5(FAM120A):c.107G>A (p.Arg36Gln)	FAM120A, FAM120AOS +1 more (R36Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357522	NM_198841.4(FAM120AOS):c.132G>C (p.Trp44Cys)	FAM120A, FAM120AOS (W44C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311680	NM_014612.5(FAM120A):c.113G>A (p.Arg38Gln)	FAM120A, FAM120AOS +1 more (R38Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272483	NM_198841.4(FAM120AOS):c.305G>A (p.Arg102Gln)	FAM120A, FAM120AOS +1 more (R102Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1676467	NM_014612.5(FAM120A):c.1988C>A (p.Ala663Asp)	FAM120A (A662D +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1239120	NM_014612.5(FAM120A):c.474+192A>G	FAM120A, FAM120AOS	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1178731	NM_014612.5(FAM120A):c.474+257G>A	FAM120A, FAM120AOS (L22F)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 733835	NM_198841.4(FAM120AOS):c.270del (p.Ile90fs)	FAM120A, FAM120AOS +1 more (I90fs)	Deletion (frameshift variant +2 more)	not provided	GLikely benign