SCARF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 146265	GRCh38/hg38 17p13.3(chr17:847955-1641601)x3	ABR, ABR-AS1 +43 more	Copy number gain	See cases	GPathogenic
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 154829	GRCh38/hg38 17p13.3(chr17:1113825-1641612)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 58670	GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 932227	GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3	LOC130059870, LOC130059871 +34 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 58672	GRCh38/hg38 17p13.3(chr17:1325809-1638055)x3	CRK, INPP5K +23 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 709150	NM_003693.4(SCARF1):c.2462T>C (p.Val821Ala)	SCARF1 (V821A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2279455	NM_003693.4(SCARF1):c.2406G>C (p.Gln802His)	SCARF1 (Q802H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568999	NM_003693.4(SCARF1):c.2398C>G (p.Pro800Ala)	SCARF1 (P800A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298143	NM_003693.4(SCARF1):c.2302C>T (p.Pro768Ser)	SCARF1 (P768S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2591328	NM_003693.4(SCARF1):c.2297C>T (p.Thr766Ile)	SCARF1 (T766I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235799	NM_003693.4(SCARF1):c.2264A>G (p.Asn755Ser)	SCARF1 (N755S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2250243	NM_003693.4(SCARF1):c.2234T>C (p.Leu745Pro)	SCARF1 (L745P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387623	NM_003693.4(SCARF1):c.2233C>T (p.Leu745Phe)	SCARF1 (L745F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158323	NM_003693.4(SCARF1):c.2227C>T (p.Pro743Ser)	SCARF1 (P743S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294822	NM_003693.4(SCARF1):c.2212C>T (p.Arg738Trp)	SCARF1 (R738W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158322	NM_003693.4(SCARF1):c.2195C>T (p.Pro732Leu)	SCARF1 (P732L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158321	NM_003693.4(SCARF1):c.2171T>G (p.Val724Gly)	SCARF1 (V724G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158320	NM_003693.4(SCARF1):c.2170G>T (p.Val724Phe)	SCARF1 (V724F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158319	NM_003693.4(SCARF1):c.2169G>C (p.Lys723Asn)	SCARF1 (K723N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317649	NM_003693.4(SCARF1):c.2131C>T (p.His711Tyr)	SCARF1 (H711Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386348	NM_003693.4(SCARF1):c.2005A>C (p.Thr669Pro)	SCARF1 (T669P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240523	NM_003693.4(SCARF1):c.1981C>T (p.Arg661Trp)	SCARF1 (R661W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315075	NM_003693.4(SCARF1):c.1889G>A (p.Arg630Gln)	SCARF1 (R630Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2304352	NM_003693.4(SCARF1):c.1862G>C (p.Arg621Pro)	SCARF1 (R621P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283009	NM_003693.4(SCARF1):c.1808G>A (p.Arg603His)	SCARF1 (R603H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405829	NM_003693.4(SCARF1):c.1796C>T (p.Ala599Val)	SCARF1 (A599V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466075	NM_003693.4(SCARF1):c.1780G>C (p.Glu594Gln)	SCARF1 (E594Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523638	NM_003693.4(SCARF1):c.1766C>T (p.Ser589Leu)	SCARF1 (S589L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537770	NM_003693.4(SCARF1):c.1702G>A (p.Glu568Lys)	SCARF1 (E568K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2219037	NM_003693.4(SCARF1):c.1573T>A (p.Ser525Thr)	SCARF1 (H512Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373026	NM_003693.4(SCARF1):c.1558G>A (p.Asp520Asn)	SCARF1 (D520N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509483	NM_003693.4(SCARF1):c.1545C>T (p.Ala515=)	SCARF1 (P503L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2518109	NM_003693.4(SCARF1):c.1534C>T (p.Pro512Ser)	SCARF1 (P512S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385267	NM_003693.4(SCARF1):c.1501C>T (p.Pro501Ser)	SCARF1 (P501S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317648	NM_003693.4(SCARF1):c.1394G>A (p.Arg465Lys)	SCARF1 (R465K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256833	NM_003693.4(SCARF1):c.1387G>A (p.Val463Met)	SCARF1 (V463M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591263	NM_003693.4(SCARF1):c.1346G>A (p.Arg449Gln)	SCARF1 (R449Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412360	NM_003693.4(SCARF1):c.1255C>T (p.Arg419Trp)	SCARF1 (R419W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158318	NM_003693.4(SCARF1):c.1223T>C (p.Val408Ala)	SCARF1 (V408A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469267	NM_003693.4(SCARF1):c.1157C>G (p.Pro386Arg)	SCARF1 (P386R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208551	NM_003693.4(SCARF1):c.1123G>A (p.Gly375Ser)	SCARF1 (G375S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410796	NM_003693.4(SCARF1):c.1100C>T (p.Thr367Ile)	SCARF1 (T367I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158317	NM_003693.4(SCARF1):c.1070C>T (p.Thr357Ile)	SCARF1 (T357I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405603	NM_003693.4(SCARF1):c.982C>T (p.Arg328Cys)	SCARF1 (R328C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316416	NM_003693.4(SCARF1):c.961C>T (p.Pro321Ser)	SCARF1 (P321S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385089	NM_003693.4(SCARF1):c.947G>A (p.Gly316Glu)	SCARF1 (G316E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394851	NM_003693.4(SCARF1):c.872C>T (p.Thr291Ile)	SCARF1 (T291I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475210	NM_003693.4(SCARF1):c.850T>C (p.Cys284Arg)	SCARF1 (C284R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158329	NM_003693.4(SCARF1):c.799C>T (p.Arg267Cys)	SCARF1 (R267C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158328	NM_003693.4(SCARF1):c.721C>T (p.Pro241Ser)	SCARF1 (P241S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158327	NM_003693.4(SCARF1):c.718C>G (p.Pro240Ala)	SCARF1 (P240A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158326	NM_003693.4(SCARF1):c.599C>T (p.Pro200Leu)	SCARF1 (P200L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158325	NM_003693.4(SCARF1):c.557G>C (p.Trp186Ser)	SCARF1 (W186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327385	NM_003693.4(SCARF1):c.557G>T (p.Trp186Leu)	SCARF1 (W186L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223299	NM_003693.4(SCARF1):c.533C>A (p.Ala178Asp)	SCARF1 (A178D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158324	NM_003693.4(SCARF1):c.467C>T (p.Ser156Leu)	SCARF1 (S156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568994	NM_003693.4(SCARF1):c.455C>T (p.Pro152Leu)	SCARF1 (P152L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330311	NM_003693.4(SCARF1):c.424G>A (p.Asp142Asn)	SCARF1 (D142N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318855	NM_003693.4(SCARF1):c.407G>A (p.Gly136Asp)	SCARF1 (G136D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354382	NM_003693.4(SCARF1):c.382C>A (p.Arg128Ser)	SCARF1 (R128S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204646	NM_003693.4(SCARF1):c.341C>A (p.Ala114Asp)	SCARF1 (A114D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601934	NM_003693.4(SCARF1):c.272C>T (p.Pro91Leu)	SCARF1 (P91L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567160	NM_003693.4(SCARF1):c.227G>A (p.Arg76Gln)	SCARF1 (R76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311126	NM_003693.4(SCARF1):c.179C>T (p.Pro60Leu)	SCARF1 (P60L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2220135	NM_003693.4(SCARF1):c.103C>T (p.Pro35Ser)	SCARF1 (P35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552997	NM_003693.4(SCARF1):c.89G>A (p.Cys30Tyr)	SCARF1 (C30Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718294	NM_003693.4(SCARF1):c.84C>T (p.His28=)	SCARF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243204	NC_000017.10:g.(?_882539)_(1565467_?)del	ABR, BHLHA9 +12 more	Deletion	not provided	GPathogenic

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