ClinVar for Gene (Select 8578) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 3243179	NC_000017.10:g.(?_1516489)_(1565447_?)del	PRPF8, RILP +2 more	Deletion	not provided	GPathogenic
Select item 3242329	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	ABR, BHLHA9 +20 more	Copy number loss	not provided	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 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 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 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 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 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 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063515	GRCh37/hg19 17p13.3(chr17:1483585-1714805)x3	MIR22, PRPF8 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063489	GRCh37/hg19 17p13.3(chr17:1139864-1703566)x3	BHLHA9, CRK +15 more	Copy number gain	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685592	GRCh37/hg19 17p13.3(chr17:1469988-1591788)x1	PRPF8, RILP +2 more	Copy number loss	not provided	GUncertain significance
Select item 2685591	GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1	CRK, DPH1 +21 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	ABR, BHLHA9 +26 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	ABR, BHLHA9 +22 more	Deletion	not provided	GUncertain significance
Select item 2423901	NC_000017.10:g.(?_1478898)_(1642177_?)del	MIR22, PRPF8 +5 more	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	ABR, BHLHA9 +17 more	Duplication	not provided	GUncertain significance
Select item 1340305	GRCh37/hg19 17p13.3(chr17:1176459-1570012)x3	CRK, INPP5K +8 more	Copy number gain	not provided	GPathogenic
Select item 1340108	GRCh37/hg19 17p13.3(chr17:858365-1690452)x3	ABR, BHLHA9 +18 more	Copy number gain	not provided	GPathogenic
Select item 1339819	GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3	ABR, BHLHA9 +10 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	Gnot provided
Select item 1048616	GRCh37/hg19 17p13.3(chr17:1479954-1585094)x1	PRPF8, RILP +2 more	Copy number loss	See cases	GUncertain significance
Select item 988932	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	TIMM22, TLCD2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	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 932227	GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3	LOC130059870, LOC130059871 +34 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 832985	NC_000017.11:g.(?_1613195)_(1681690_?)dup	PRPF8, RILP +2 more	Duplication	not provided	GUncertain significance
Select item 816554	GRCh37/hg19 17p13.3(chr17:1310685-1690452)x3	CRK, INPP5K +12 more	Copy number gain	not provided	GUncertain significance
Select item 816552	GRCh37/hg19 17p13.3(chr17:1204863-1751418)x3	CRK, INPP5K +14 more	Copy number gain	not provided	GPathogenic
Select item 816550	GRCh37/hg19 17p13.3(chr17:1009449-1722313)x3	ABR, BHLHA9 +16 more	Copy number gain	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
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 709150	NM_003693.4(SCARF1):c.2462T>C (p.Val821Ala)	SCARF1 (V821A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 687701	GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3	CLUH, DPH1 +24 more	Copy number gain	not provided	GPathogenic

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