CARF[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147740	GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1	ABI2, CARF +47 more	Copy number loss	See cases	GPathogenic
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 784583	NM_024744.17(CARF):c.322C>T (p.Pro108Ser)	CARF (P6S +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
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 785023	NM_024744.17(CARF):c.470T>C (p.Val157Ala)	CARF (V81A +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
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 711351	NM_024744.17(CARF):c.954-6A>T	CARF	Single nucleotide variant (intron variant)	not provided	GBenign
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 767842	NM_024744.17(CARF):c.1362C>T (p.Pro454=)	CARF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 789972	NM_024744.17(CARF):c.1518G>A (p.Gly506=)	CARF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 721243	NM_024744.17(CARF):c.1760C>T (p.Pro587Leu)	CARF (P587L +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 714941	NM_024744.17(CARF):c.2146dup (p.Thr716fs)	CARF (T628fs +5 more)	Duplication (frameshift variant +2 more)	not provided	GLikely benign
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
Select item 717827	NM_024744.17(CARF):c.2173A>G (p.Thr725Ala)	CARF (T539A +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1241701	NM_024744.17(CARF):c.*377G>A	CARF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2684941	GRCh37/hg19 2q33.2(chr2:203662536-203857352)x1	CARF, ICA1L +1 more	Copy number loss	not provided	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526944	GRCh37/hg19 2q33.2(chr2:203845300-203994179)	CARF, NBEAL1	Copy number loss	not specified	GUncertain significance
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	ABI2, ALS2 +25 more	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +2 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814358	GRCh37/hg19 2q33.2(chr2:203753937-203816438)x1	WDR12, CARF	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813271	Single allele	ICA1L, NBEAL1 +4 more	Deletion	Pulmonary arterial hypertension	GLikely pathogenic
Select item 813264	Single allele	FZD7, ICA1L +13 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 79