CREBRF[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077357	NM_153607.3(CREBRF):c.460C>T (p.Leu154Phe)	CREBRF (L154F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776103	NM_153607.3(CREBRF):c.471C>T (p.Pro157=)	CREBRF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2318376	NM_153607.3(CREBRF):c.499C>A (p.Pro167Thr)	CREBRF (P167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333911	NM_153607.3(CREBRF):c.500C>T (p.Pro167Leu)	CREBRF (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357747	NM_153607.3(CREBRF):c.560C>G (p.Ser187Cys)	CREBRF (S187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077359	NM_153607.3(CREBRF):c.659A>T (p.Tyr220Phe)	CREBRF (Y220F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269469	NM_153607.3(CREBRF):c.678C>A (p.Asn226Lys)	CREBRF (N226K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077360	NM_153607.3(CREBRF):c.731C>T (p.Pro244Leu)	CREBRF (P244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346293	NM_153607.3(CREBRF):c.745C>T (p.Arg249Trp)	CREBRF (R249W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312837	NM_153607.3(CREBRF):c.762G>C (p.Gln254His)	CREBRF (Q254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348948	NM_153607.3(CREBRF):c.797A>G (p.Tyr266Cys)	CREBRF (Y266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330571	NM_153607.3(CREBRF):c.806C>A (p.Ala269Glu)	CREBRF (A269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344542	NM_153607.3(CREBRF):c.872C>T (p.Pro291Leu)	CREBRF (P291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027010	NM_153607.3(CREBRF):c.894A>G (p.Leu298=)	CREBRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784062	NM_153607.3(CREBRF):c.930A>G (p.Ser310=)	CREBRF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2614599	NM_153607.3(CREBRF):c.971C>T (p.Ser324Leu)	CREBRF (S324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077361	NM_153607.3(CREBRF):c.973G>C (p.Val325Leu)	CREBRF (V325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269471	NM_153607.3(CREBRF):c.1001A>T (p.Glu334Val)	CREBRF (E334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326876	NM_153607.3(CREBRF):c.1153G>A (p.Glu385Lys)	CREBRF (E385K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265528	NM_153607.3(CREBRF):c.1367A>G (p.Asn456Ser)	CREBRF (N456S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301235	NM_153607.3(CREBRF):c.1397A>G (p.Gln466Arg)	CREBRF (Q466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490287	NM_153607.3(CREBRF):c.1441C>T (p.Arg481Trp)	CREBRF (R481W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269470	NM_153607.3(CREBRF):c.1570C>A (p.Pro524Thr)	CREBRF (P524T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077356	NM_153607.3(CREBRF):c.1795G>T (p.Asp599Tyr)	CREBRF (D599Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212049	NM_153607.3(CREBRF):c.1799C>T (p.Thr600Ile)	CREBRF (T600I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603891	NM_153607.3(CREBRF):c.1832A>C (p.Glu611Ala)	CREBRF (E611A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26