ClinVar for Gene (Select 136306) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323777	NM_001139456.2(SVOPL):c.1235T>G (p.Phe412Cys)	SVOPL (F260C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323776	NM_001139456.2(SVOPL):c.548C>A (p.Ala183Glu)	SVOPL (A183E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323775	NM_001139456.2(SVOPL):c.586A>T (p.Ile196Phe)	SVOPL (I196F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323774	NM_001139456.2(SVOPL):c.92C>T (p.Thr31Met)	SVOPL (T31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323773	NM_001139456.2(SVOPL):c.605G>A (p.Arg202His)	SVOPL (R202H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323772	NM_001139456.2(SVOPL):c.730C>T (p.Arg244Cys)	SVOPL (R92C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323771	NM_001139456.2(SVOPL):c.44G>A (p.Arg15Gln)	SVOPL (R15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172492	NM_001139456.2(SVOPL):c.997C>T (p.Pro333Ser)	SVOPL (P181S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172491	NM_001139456.2(SVOPL):c.90G>T (p.Lys30Asn)	SVOPL (K30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172490	NM_001139456.2(SVOPL):c.901G>A (p.Ala301Thr)	SVOPL (A149T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172489	NM_001139456.2(SVOPL):c.834A>C (p.Leu278Phe)	SVOPL (L126F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172488	NM_001139456.2(SVOPL):c.760C>T (p.Pro254Ser)	SVOPL (P254S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172487	NM_001139456.2(SVOPL):c.731G>A (p.Arg244His)	SVOPL (R244H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172486	NM_001139456.2(SVOPL):c.680G>T (p.Arg227Leu)	SVOPL (R227L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172485	NM_001139456.2(SVOPL):c.639C>G (p.Ile213Met)	SVOPL (I122M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172484	NM_001139456.2(SVOPL):c.272C>T (p.Thr91Met)	SVOPL (T91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172483	NM_001139456.2(SVOPL):c.256G>A (p.Val86Met)	SVOPL (V86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172482	NM_001139456.2(SVOPL):c.226C>T (p.Arg76Cys)	SVOPL (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172481	NM_001139456.2(SVOPL):c.152T>A (p.Phe51Tyr)	SVOPL (F51Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172479	NM_001139456.2(SVOPL):c.1441A>G (p.Ile481Val)	SVOPL (I329V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172478	NM_001139456.2(SVOPL):c.1433C>T (p.Thr478Ile)	SVOPL (T478I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172477	NM_001139456.2(SVOPL):c.1243G>A (p.Val415Ile)	SVOPL (V415I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172476	NM_001139456.2(SVOPL):c.116A>G (p.Glu39Gly)	SVOPL (E39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172475	NM_001139456.2(SVOPL):c.1057G>A (p.Gly353Ser)	SVOPL (G262S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2613965	NM_001139456.2(SVOPL):c.548C>T (p.Ala183Val)	SVOPL (A183V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608707	NM_001139456.2(SVOPL):c.1085T>C (p.Ile362Thr)	SVOPL (I271T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2542817	NM_001139456.2(SVOPL):c.430C>T (p.Arg144Trp)	SVOPL (R53W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522238	NM_001139456.2(SVOPL):c.970G>T (p.Gly324Trp)	SVOPL (G233W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513950	NM_001139456.2(SVOPL):c.1282C>T (p.Arg428Cys)	SVOPL (R276C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490513	NM_001139456.2(SVOPL):c.146C>A (p.Ala49Asp)	SVOPL (A49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471282	NM_001139456.2(SVOPL):c.518T>C (p.Met173Thr)	SVOPL (M173T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470733	NM_001139456.2(SVOPL):c.1468C>A (p.Gln490Lys)	SVOPL (Q338K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468995	NM_001139456.2(SVOPL):c.835C>T (p.Arg279Trp)	SVOPL (R127W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2401198	NM_001139456.2(SVOPL):c.895A>T (p.Ile299Phe)	SVOPL (I208F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400521	NM_001139456.2(SVOPL):c.227G>A (p.Arg76His)	SVOPL (R76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396337	NM_001139456.2(SVOPL):c.148C>A (p.Leu50Ile)	SVOPL (L50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389644	NM_001139456.2(SVOPL):c.1466A>G (p.Gln489Arg)	SVOPL (Q489R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380844	NM_001139456.2(SVOPL):c.781C>A (p.Pro261Thr)	SVOPL (P109T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378250	NM_001139456.2(SVOPL):c.407C>T (p.Ser136Leu)	SVOPL (S45L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356600	NM_001139456.2(SVOPL):c.884A>G (p.Tyr295Cys)	SVOPL (Y295C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354657	NM_001139456.2(SVOPL):c.1322T>A (p.Ile441Asn)	SVOPL (I289N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345609	NM_001139456.2(SVOPL):c.1361T>C (p.Met454Thr)	SVOPL (M302T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344995	NM_001139456.2(SVOPL):c.1111C>T (p.Arg371Trp)	SVOPL (R371W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331564	NM_001139456.2(SVOPL):c.499A>G (p.Thr167Ala)	SVOPL (T76A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313568	NM_001139456.2(SVOPL):c.551G>T (p.Gly184Val)	SVOPL (G93V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283506	NM_001139456.2(SVOPL):c.1297G>A (p.Gly433Arg)	SVOPL (G281R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278893	NM_001139456.2(SVOPL):c.1277C>A (p.Thr426Lys)	SVOPL (T335K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275944	NM_001139456.2(SVOPL):c.995G>A (p.Ser332Asn)	SVOPL (S180N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270282	NM_001139456.2(SVOPL):c.500C>T (p.Thr167Met)	SVOPL (T76M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236557	NM_001139456.2(SVOPL):c.1457G>C (p.Arg486Pro)	SVOPL (R334P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226633	NM_001139456.2(SVOPL):c.976G>T (p.Asp326Tyr)	SVOPL (D326Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211335	NM_001139456.2(SVOPL):c.1142C>T (p.Thr381Met)	SVOPL (T229M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207016	NM_001139456.2(SVOPL):c.956C>T (p.Ala319Val)	SVOPL (A167V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ADCK2, AGK +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 1252087	NM_001139456.2(SVOPL):c.663del (p.Phe221fs)	SVOPL (F130fs +2 more)	Deletion (frameshift variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815043	GRCh37/hg19 7q34(chr7:138320325-138371839)x1	SVOPL	Copy number loss	not provided	GLikely benign
Select item 815042	GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1	TRIM24, PARP12 +20 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 793655	NM_001139456.2(SVOPL):c.985G>A (p.Glu329Lys)	SVOPL (E238K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 779254	NM_001139456.2(SVOPL):c.508C>T (p.Arg170Ter)	SVOPL (R170* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 777830	NM_001139456.2(SVOPL):c.669T>C (p.Pro223=)	SVOPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740628	NM_001139456.2(SVOPL):c.598G>A (p.Gly200Arg)	SVOPL (G109R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726066	NM_001139456.2(SVOPL):c.648C>T (p.Ile216=)	SVOPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713102	NM_001139456.2(SVOPL):c.679C>T (p.Arg227Trp)	SVOPL (R136W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
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 685702	GRCh37/hg19 7q33-34(chr7:137675423-139084024)x1	AKR1D1, ATP6V0A4 +12 more	Copy number loss	not provided	GUncertain significance
Select item 685350	GRCh37/hg19 7q33-34(chr7:137848980-138897699)x3	ATP6V0A4, KIAA1549 +6 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 443705	GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	AKR1D1, ATP6V0A4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
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 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic

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