Related gene-specific medical variations for Gene (Select 10160) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3513056	NM_005766.4(FARP1):c.2246G>A (p.Gly749Asp)	FARP1, FARP1-AS1 (G749D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513045	NM_005766.4(FARP1):c.2189C>T (p.Thr730Met)	FARP1, FARP1-AS1 (T730M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3513044	NM_005766.4(FARP1):c.2258T>C (p.Leu753Pro)	FARP1, FARP1-AS1 (L753P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513042	NM_005766.4(FARP1):c.3098G>A (p.Arg1033Gln)	FARP1, STK24 (R1033Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3434059	NM_178861.5(RNF113B):c.140G>A (p.Ser47Asn)	FARP1, RNF113B (S47N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314682	NM_178861.5(RNF113B):c.311G>A (p.Gly104Glu)	FARP1, RNF113B (G104E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314681	NM_178861.5(RNF113B):c.577C>T (p.Pro193Ser)	FARP1, RNF113B (P193S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154958	NM_178861.5(RNF113B):c.962A>C (p.Lys321Thr)	FARP1, RNF113B (K321T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154957	NM_178861.5(RNF113B):c.886C>T (p.Pro296Ser)	FARP1, RNF113B (P296S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154956	NM_178861.5(RNF113B):c.563G>A (p.Arg188His)	FARP1, RNF113B (R188H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154955	NM_178861.5(RNF113B):c.536C>G (p.Ala179Gly)	FARP1, RNF113B (A179G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154953	NM_178861.5(RNF113B):c.355G>A (p.Glu119Lys)	FARP1, RNF113B (E119K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154952	NM_178861.5(RNF113B):c.271G>A (p.Asp91Asn)	FARP1, RNF113B (D91N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154951	NM_178861.5(RNF113B):c.251A>C (p.Glu84Ala)	FARP1, RNF113B (E84A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154950	NM_178861.5(RNF113B):c.176C>G (p.Pro59Arg)	FARP1, RNF113B (P59R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092878	NM_005766.4(FARP1):c.3111G>C (p.Leu1037Phe)	FARP1, STK24 (L1068F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092876	NM_005766.4(FARP1):c.2890T>C (p.Tyr964His)	FARP1, STK24 (Y964H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092870	NM_005766.4(FARP1):c.2244T>G (p.Ile748Met)	FARP1, FARP1-AS1 (I748M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643885	NM_005766.4(FARP1):c.2163G>T (p.Thr721=)	FARP1, FARP1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2591517	NM_178861.5(RNF113B):c.506C>T (p.Ser169Leu)	FARP1, RNF113B (S169L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559328	NM_178861.5(RNF113B):c.79C>T (p.Arg27Trp)	FARP1, RNF113B (R27W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541598	NM_178861.5(RNF113B):c.103A>G (p.Lys35Glu)	FARP1, RNF113B (K35E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527995	NM_005766.4(FARP1):c.2897C>T (p.Ser966Leu)	FARP1, STK24 (S966L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520858	NM_178861.5(RNF113B):c.293G>A (p.Arg98His)	FARP1, RNF113B (R98H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514305	NM_178861.5(RNF113B):c.4G>C (p.Ala2Pro)	FARP1, RNF113B (A2P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488030	NM_005766.4(FARP1):c.3089C>T (p.Ser1030Phe)	FARP1, STK24 (S1061F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484267	NM_178861.5(RNF113B):c.231C>A (p.His77Gln)	FARP1, RNF113B (H77Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482219	NM_178861.5(RNF113B):c.863C>T (p.Pro288Leu)	FARP1, RNF113B (P288L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477215	NM_178861.5(RNF113B):c.133G>A (p.Glu45Lys)	FARP1, RNF113B (E45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398683	NM_178861.5(RNF113B):c.742G>A (p.Glu248Lys)	FARP1, RNF113B (E248K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397214	NM_178861.5(RNF113B):c.361G>A (p.Glu121Lys)	FARP1, RNF113B (E121K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334329	NM_178861.5(RNF113B):c.292C>T (p.Arg98Cys)	FARP1, RNF113B (R98C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310142	NM_178861.5(RNF113B):c.456C>G (p.Ser152Arg)	FARP1, RNF113B (S152R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298801	NM_001032296.4(STK24):c.1285T>G (p.Ser429Ala)	FARP1, STK24 (S410A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2291962	NM_178861.5(RNF113B):c.80G>T (p.Arg27Leu)	FARP1, RNF113B (R27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287720	NM_005766.4(FARP1):c.2152G>C (p.Ala718Pro)	FARP1, FARP1-AS1 (A718P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286453	NM_178861.5(RNF113B):c.107G>A (p.Arg36His)	FARP1, RNF113B (R36H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284862	NM_005766.4(FARP1):c.2837G>A (p.Ser946Asn)	FARP1, STK24 (S946N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277972	NM_178861.5(RNF113B):c.40G>A (p.Ala14Thr)	FARP1, RNF113B (A14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277444	NM_005766.4(FARP1):c.2945C>T (p.Ser982Leu)	FARP1, STK24 (S982L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266074	NM_178861.5(RNF113B):c.887C>T (p.Pro296Leu)	FARP1, RNF113B (P296L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254375	NM_178861.5(RNF113B):c.646G>A (p.Asp216Asn)	FARP1, RNF113B (D216N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252793	NM_005766.4(FARP1):c.2870C>G (p.Thr957Arg)	FARP1, STK24 (T988R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 43