"Ambry Genetics"[submitter] AND "FAM120A"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 3091734	NM_014612.5(FAM120A):c.578A>G (p.Asn193Ser)	FAM120A (N193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091735	NM_014612.5(FAM120A):c.872G>A (p.Arg291His)	FAM120A (R291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091737	NM_014612.5(FAM120A):c.921C>G (p.Phe307Leu)	FAM120A (F307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302987	NM_014612.5(FAM120A):c.962T>A (p.Phe321Tyr)	FAM120A (F321Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254155	NM_014612.5(FAM120A):c.1159G>A (p.Ala387Thr)	FAM120A (A387T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344482	NM_014612.5(FAM120A):c.1163C>T (p.Pro388Leu)	FAM120A (P387L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510987	NM_014612.5(FAM120A):c.1238C>T (p.Thr413Met)	FAM120A (T412M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389185	NM_014612.5(FAM120A):c.1246A>G (p.Asn416Asp)	FAM120A (N416D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277115	NM_014612.5(FAM120A):c.1283C>T (p.Thr428Met)	FAM120A (T428M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338192	NM_014612.5(FAM120A):c.1309A>G (p.Ile437Val)	FAM120A (I437V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091724	NM_014612.5(FAM120A):c.1411G>A (p.Ala471Thr)	FAM120A (A471T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250393	NM_014612.5(FAM120A):c.1505A>C (p.Lys502Thr)	FAM120A (K502T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487727	NM_014612.5(FAM120A):c.1534G>A (p.Gly512Arg)	FAM120A (G511R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338427	NM_014612.5(FAM120A):c.1577T>C (p.Val526Ala)	FAM120A (V526A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307978	NM_014612.5(FAM120A):c.1741A>G (p.Ile581Val)	FAM120A (I580V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091725	NM_014612.5(FAM120A):c.1759A>G (p.Ile587Val)	FAM120A (I587V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091726	NM_014612.5(FAM120A):c.2222C>T (p.Ala741Val)	FAM120A (A741V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240149	NM_014612.5(FAM120A):c.2242C>T (p.Leu748Phe)	FAM120A (L747F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091727	NM_014612.5(FAM120A):c.2434C>T (p.Leu812Phe)	FAM120A (L811F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277114	NM_014612.5(FAM120A):c.2524G>A (p.Val842Ile)	FAM120A (V841I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2238214	NM_014612.5(FAM120A):c.2549G>A (p.Arg850Lys)	FAM120A (R849K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227424	NM_014612.5(FAM120A):c.2560A>G (p.Thr854Ala)	FAM120A (T854A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349522	NM_014612.5(FAM120A):c.2573C>T (p.Pro858Leu)	FAM120A (P857L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277116	NM_014612.5(FAM120A):c.2600C>A (p.Pro867His)	FAM120A (P867H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091728	NM_014612.5(FAM120A):c.2609C>T (p.Ala870Val)	FAM120A (A869V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351936	NM_014612.5(FAM120A):c.2615C>T (p.Pro872Leu)	FAM120A (P871L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303834	NM_014612.5(FAM120A):c.2726C>T (p.Ala909Val)	FAM120A (A908V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380457	NM_014612.5(FAM120A):c.2831G>A (p.Gly944Glu)	FAM120A (G943E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481559	NM_014612.5(FAM120A):c.2896G>C (p.Gly966Arg)	FAM120A (G965R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091730	NM_014612.5(FAM120A):c.2899C>T (p.Arg967Trp)	FAM120A (R967W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303405	NM_014612.5(FAM120A):c.3071C>T (p.Ala1024Val)	FAM120A (A1023V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555055	NM_014612.5(FAM120A):c.3145C>G (p.Leu1049Val)	FAM120A (L1048V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091731	NM_014612.5(FAM120A):c.3169G>A (p.Glu1057Lys)	FAM120A (E1056K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227602	NM_014612.5(FAM120A):c.3195C>G (p.Asn1065Lys)	FAM120A (N1064K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358226	NM_014612.5(FAM120A):c.3211G>A (p.Ala1071Thr)	FAM120A (A1070T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091732	NM_014612.5(FAM120A):c.3260C>T (p.Thr1087Met)	FAM120A (T1086M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091733	NM_014612.5(FAM120A):c.3311G>A (p.Arg1104His)	FAM120A (R1103H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 51