SCIN[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 147919	GRCh38/hg38 7p21.3(chr7:12109334-12653407)x3	C7orf78, LOC123924902 +13 more	Copy number gain	See cases	GBenign
Select item 3158439	NM_001112706.3(SCIN):c.5C>T (p.Ala2Val)	SCIN (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389756	NM_001112706.3(SCIN):c.38C>T (p.Ala13Val)	SCIN (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158442	NM_001112706.3(SCIN):c.71T>C (p.Ile24Thr)	SCIN (I24T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477608	NM_001112706.3(SCIN):c.161C>T (p.Thr54Met)	SCIN (T54M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312557	NM_001112706.3(SCIN):c.184C>A (p.Leu62Met)	SCIN (L62M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382979	NM_001112706.3(SCIN):c.241T>G (p.Phe81Val)	SCIN (F81V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237552	NM_001112706.3(SCIN):c.340G>A (p.Gly114Ser)	SCIN (G114S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518110	NM_001112706.3(SCIN):c.392C>T (p.Thr131Met)	SCIN (T131M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158436	NM_001112706.3(SCIN):c.407C>T (p.Ala136Val)	SCIN (A136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469936	NM_001112706.3(SCIN):c.413G>T (p.Arg138Met)	SCIN (R138M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596608	NM_001112706.3(SCIN):c.458T>A (p.Val153Asp)	SCIN (V153D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491154	NM_001112706.3(SCIN):c.467G>A (p.Ser156Asn)	SCIN (S156N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236387	NM_001112706.3(SCIN):c.485A>C (p.Lys162Thr)	SCIN (K162T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206441	NM_001112706.3(SCIN):c.500T>C (p.Ile167Thr)	SCIN (I167T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610870	NM_001112706.3(SCIN):c.528G>C (p.Gln176His)	SCIN (Q176H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387243	NM_001112706.3(SCIN):c.559C>T (p.Arg187Cys)	SCIN (R187C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158437	NM_001112706.3(SCIN):c.580G>A (p.Ala194Thr)	SCIN (A194T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158438	NM_001112706.3(SCIN):c.590T>G (p.Ile197Ser)	SCIN (I197S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158440	NM_001112706.3(SCIN):c.605G>A (p.Arg202Lys)	SCIN (R202K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2410556	NM_001112706.3(SCIN):c.619G>C (p.Glu207Gln)	SCIN (E207Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2292271	NM_001112706.3(SCIN):c.632T>C (p.Val211Ala)	SCIN (V211A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158441	NM_001112706.3(SCIN):c.667G>C (p.Val223Leu)	SCIN (V223L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389025	NM_001112706.3(SCIN):c.697G>A (p.Gly233Arg)	SCIN (G233R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158443	NM_001112706.3(SCIN):c.793G>C (p.Val265Leu)	SCIN (V18L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2334659	NM_001112706.3(SCIN):c.828G>A (p.Met276Ile)	SCIN (M29I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158444	NM_001112706.3(SCIN):c.830T>G (p.Leu277Arg)	SCIN (L277R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158445	NM_001112706.3(SCIN):c.865G>T (p.Ala289Ser)	SCIN (A289S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373569	NM_001112706.3(SCIN):c.918G>T (p.Arg306Ser)	SCIN (R306S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606721	NM_001112706.3(SCIN):c.944A>C (p.Glu315Ala)	SCIN (E68A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599832	NM_001112706.3(SCIN):c.971A>G (p.Lys324Arg)	SCIN (K324R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411381	NM_001112706.3(SCIN):c.980A>G (p.Gln327Arg)	SCIN (Q80R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158424	NM_001112706.3(SCIN):c.1129A>G (p.Lys377Glu)	SCIN (K130E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158425	NM_001112706.3(SCIN):c.1144C>T (p.Pro382Ser)	SCIN (P382S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342186	NM_001112706.3(SCIN):c.1205G>A (p.Arg402His)	SCIN (R155H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331439	NM_001112706.3(SCIN):c.1217A>G (p.Asn406Ser)	SCIN (N406S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348229	NM_001112706.3(SCIN):c.1232T>G (p.Val411Gly)	SCIN (V411G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338842	NM_001112706.3(SCIN):c.1316C>T (p.Thr439Met)	SCIN (T192M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510312	NM_001112706.3(SCIN):c.1348C>G (p.Leu450Val)	SCIN (L450V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206720	NM_001112706.3(SCIN):c.1384C>T (p.Arg462Trp)	SCIN (R215W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155141	GRCh38/hg38 7p21.3(chr7:12637265-13199926)x1	ARL4A, LOC116183085 +13 more	Copy number loss	See cases	GUncertain significance
Select item 2473120	NM_001112706.3(SCIN):c.1415G>A (p.Arg472Gln)	SCIN (R472Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328343	NM_001112706.3(SCIN):c.1430A>G (p.Lys477Arg)	LOC123924904, SCIN (K230R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555288	NM_001112706.3(SCIN):c.1438G>A (p.Val480Ile)	LOC123924904, SCIN (V233I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396661	NM_001112706.3(SCIN):c.1487A>G (p.Asn496Ser)	LOC123924904, SCIN (N249S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158426	NM_001112706.3(SCIN):c.1520C>T (p.Ala507Val)	LOC123924904, SCIN (A260V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402190	NM_001112706.3(SCIN):c.1522C>T (p.Pro508Ser)	LOC123924904, SCIN (P261S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158427	NM_001112706.3(SCIN):c.1523C>T (p.Pro508Leu)	LOC123924904, SCIN (P508L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158428	NM_001112706.3(SCIN):c.1525C>A (p.Pro509Thr)	LOC123924904, SCIN (P509T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158429	NM_001112706.3(SCIN):c.1534C>G (p.Leu512Val)	LOC123924904, SCIN (L265V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158430	NM_001112706.3(SCIN):c.1564A>G (p.Ile522Val)	LOC123924904, SCIN (I522V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549407	NM_001112706.3(SCIN):c.1571G>A (p.Arg524Lys)	LOC123924904, SCIN (R277K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158431	NM_001112706.3(SCIN):c.1583T>C (p.Val528Ala)	SCIN (V528A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487818	NM_001112706.3(SCIN):c.1591G>A (p.Asp531Asn)	SCIN (D284N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158432	NM_001112706.3(SCIN):c.1601C>T (p.Ser534Leu)	SCIN (S287L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158433	NM_001112706.3(SCIN):c.1624G>T (p.Val542Phe)	SCIN (V295F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158434	NM_001112706.3(SCIN):c.1684G>A (p.Glu562Lys)	SCIN (E562K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493884	NM_001112706.3(SCIN):c.1703A>T (p.Tyr568Phe)	SCIN (Y321F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158435	NM_001112706.3(SCIN):c.1769G>T (p.Trp590Leu)	SCIN (W343L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348487	NM_001112706.3(SCIN):c.1830A>C (p.Glu610Asp)	SCIN (E363D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457001	NM_001112706.3(SCIN):c.1859C>A (p.Ser620Tyr)	SCIN (S373Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569141	NM_001112706.3(SCIN):c.1903T>A (p.Phe635Ile)	SCIN (F388I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273111	NM_001112706.3(SCIN):c.2001A>T (p.Lys667Asn)	SCIN (K667N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684482	GRCh37/hg19 7p21.3-21.2(chr7:12462428-14693884)x3	DGKB, ETV1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2579040	GRCh37/hg19 7p21.3-21.2(chr7:10973263-14669896)x3	ARL4A, DGKB +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808894	GRCh37/hg19 7p21.3(chr7:12479868-13696843)x3	ARL4A, SCIN	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1340671	GRCh37/hg19 7p21.3(chr7:12543160-12619740)x1	SCIN	Copy number loss	not provided	GLikely benign
Select item 1340127	GRCh37/hg19 7p21.3(chr7:12089180-12722444)x3	SCIN, TMEM106B +1 more	Copy number gain	not provided	GUncertain significance
Select item 1320278	GRCh37/hg19 7p21.3-21.2(chr7:8980970-14085991)x3	ARL4A, ETV1 +6 more	Copy number gain	7p21.3p21.2 microduplication	GLikely pathogenic
Select item 980252	GRCh37/hg19 7p21.3(chr7:12547655-12618764)x1	SCIN	Copy number loss	not provided	GLikely benign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 685908	GRCh37/hg19 7p21.3(chr7:12109939-13730434)x3	ARL4A, SCIN +2 more	Copy number gain	not provided	GUncertain significance
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic

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Items: 100