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

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2266547	NM_024744.17(CARF):c.32A>C (p.Asn11Thr)	CARF (N11T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2314336	NM_024744.17(CARF):c.41A>G (p.Asp14Gly)	CARF (D14G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2320661	NM_024744.17(CARF):c.104A>T (p.Asp35Val)	CARF (D35V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2590922	NM_024744.17(CARF):c.154C>T (p.Arg52Cys)	CARF (R52C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137357	NM_024744.17(CARF):c.197C>T (p.Pro66Leu)	CARF (P54L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2493290	NM_024744.17(CARF):c.268T>C (p.Tyr90His)	CARF (Y90H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137360	NM_024744.17(CARF):c.343C>A (p.Leu115Ile)	CARF (L103I +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2283923	NM_024744.17(CARF):c.374T>A (p.Met125Lys)	CARF (M23K +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2302982	NM_024744.17(CARF):c.379C>G (p.Gln127Glu)	CARF (Q39E +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3263320	NM_024744.17(CARF):c.389T>C (p.Ile130Thr)	CARF (I130T +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2363897	NM_024744.17(CARF):c.395A>G (p.Gln132Arg)	CARF (Q30R +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137361	NM_024744.17(CARF):c.424C>T (p.Arg142Trp)	CARF (R54W +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137362	NM_024744.17(CARF):c.466A>G (p.Thr156Ala)	CARF (T80A +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2292428	NM_024744.17(CARF):c.475G>A (p.Val159Met)	CARF (V57M +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3263319	NM_024744.17(CARF):c.481A>G (p.Thr161Ala)	CARF (T59A +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3137363	NM_024744.17(CARF):c.533C>T (p.Pro178Leu)	CARF (P90L +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137365	NM_024744.17(CARF):c.556G>A (p.Gly186Arg)	CARF (G174R +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2338338	NM_024744.17(CARF):c.616T>A (p.Trp206Arg)	CARF (W194R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263317	NM_024744.17(CARF):c.662G>A (p.Arg221His)	CARF (R119H +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2508208	NM_024744.17(CARF):c.728G>A (p.Ser243Asn)	CARF (S141N +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137366	NM_024744.17(CARF):c.772A>G (p.Thr258Ala)	CARF (T182A +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2273844	NM_024744.17(CARF):c.958T>C (p.Tyr320His)	CARF (Y320H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137351	NM_024744.17(CARF):c.1075G>A (p.Val359Ile)	CARF (V15I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223801	NM_024744.17(CARF):c.1154C>G (p.Pro385Arg)	CARF (P309R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617255	NM_024744.17(CARF):c.1310A>C (p.Tyr437Ser)	CARF (Y349S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263318	NM_024744.17(CARF):c.1579A>G (p.Ile527Val)	CARF (I341V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2292594	NM_024744.17(CARF):c.1715C>T (p.Thr572Ile)	CARF (T228I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137352	NM_024744.17(CARF):c.1793T>C (p.Ile598Thr)	CARF (I598T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137353	NM_024744.17(CARF):c.1804G>T (p.Val602Leu)	CARF (V514L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137354	NM_024744.17(CARF):c.1822C>A (p.Leu608Ile)	CARF (L608I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137356	NM_024744.17(CARF):c.1867A>T (p.Thr623Ser)	CARF (T279S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351751	NM_024744.17(CARF):c.1903C>T (p.Leu635Phe)	CARF (L291F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362326	NM_024744.17(CARF):c.1919A>C (p.Gln640Pro)	CARF (Q296P +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2343943	NM_024744.17(CARF):c.1970C>T (p.Thr657Ile)	CARF (T581I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318757	NM_024744.17(CARF):c.1996C>T (p.Arg666Trp)	CARF (R322W +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137358	NM_024744.17(CARF):c.2071C>T (p.Pro691Ser)	CARF (P691S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379902	NM_024744.17(CARF):c.2144A>C (p.Lys715Thr)	CARF (K529T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137359	NM_024744.17(CARF):c.2161A>G (p.Lys721Glu)	CARF (K633E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar

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Items: 38