10730[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 149245	GRCh38/hg38 15q26.1(chr15:89821144-90216589)x1	AP3S2, ARPIN +29 more	Copy number loss	See cases	GLikely benign
Select item 2362457	NM_198925.4(SEMA4B):c.26G>A (p.Arg9Lys)	SEMA4B (R9K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389254	NM_198925.4(SEMA4B):c.71C>T (p.Pro24Leu)	SEMA4B (P24L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613107	NM_198925.4(SEMA4B):c.85C>A (p.Leu29Met)	SEMA4B (L29M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317318	NM_198925.4(SEMA4B):c.94C>G (p.Leu32Val)	SEMA4B (L32V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317326	NM_198925.4(SEMA4B):c.97C>T (p.Leu33Phe)	SEMA4B (L33F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554712	NM_198925.4(SEMA4B):c.101T>A (p.Leu34Gln)	SEMA4B (L34Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 146712	GRCh38/hg38 15q26.1(chr15:90216530-90767025)x1	BLM, CIB1 +44 more	Copy number loss	See cases	GUncertain significance
Select item 2403723	NM_198925.4(SEMA4B):c.182G>C (p.Arg61Thr)	SEMA4B (R61T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3159768	NM_198925.4(SEMA4B):c.187G>C (p.Glu63Gln)	SEMA4B (E63Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2509810	NM_198925.4(SEMA4B):c.227G>A (p.Ser76Asn)	SEMA4B (S76N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2255598	NM_198925.4(SEMA4B):c.383A>G (p.Gln128Arg)	SEMA4B (Q128R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2410451	NM_198925.4(SEMA4B):c.385C>T (p.Arg129Cys)	SEMA4B (R129C)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3159778	NM_198925.4(SEMA4B):c.412C>A (p.Leu138Ile)	SEMA4B (L138I)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2645703	NM_198925.4(SEMA4B):c.426C>T (p.Ser142=)	SEMA4B (A65V)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 3159779	NM_198925.4(SEMA4B):c.446G>A (p.Cys149Tyr)	SEMA4B (V72M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159780	NM_198925.4(SEMA4B):c.484A>G (p.Asn162Asp)	SEMA4B (N6D +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3159781	NM_198925.4(SEMA4B):c.488T>C (p.Met163Thr)	SEMA4B (M163T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645704	NM_198925.4(SEMA4B):c.519G>C (p.Lys173Asn)	SEMA4B (K173N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2217880	NM_198925.4(SEMA4B):c.526G>A (p.Val176Ile)	SEMA4B (V176I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2486283	NM_198925.4(SEMA4B):c.550C>T (p.Arg184Cys)	SEMA4B (R184C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2315671	NM_198925.4(SEMA4B):c.616A>G (p.Thr206Ala)	SEMA4B (T206A +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3317324	NM_198925.4(SEMA4B):c.653C>G (p.Ser218Trp)	SEMA4B (R141G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317315	NM_198925.4(SEMA4B):c.670C>T (p.Arg224Cys)	SEMA4B (R68C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3159782	NM_198925.4(SEMA4B):c.673C>T (p.Pro225Ser)	SEMA4B (P69S +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3159783	NM_198925.4(SEMA4B):c.865G>A (p.Asp289Asn)	SEMA4B (D289N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372633	NM_198925.4(SEMA4B):c.895C>T (p.Arg299Cys)	SEMA4B (R299C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489475	NM_198925.4(SEMA4B):c.917C>T (p.Ala306Val)	SEMA4B (A150V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374018	NM_198925.4(SEMA4B):c.935G>A (p.Arg312Gln)	SEMA4B (R312Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608365	NM_198925.4(SEMA4B):c.973G>A (p.Val325Ile)	SEMA4B (V169I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284203	NM_198925.4(SEMA4B):c.979A>T (p.Thr327Ser)	SEMA4B (T327S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535920	NM_198925.4(SEMA4B):c.1057A>G (p.Thr353Ala)	SEMA4B (T197A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159764	NM_198925.4(SEMA4B):c.1064G>A (p.Gly355Asp)	SEMA4B (G199D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611297	NM_198925.4(SEMA4B):c.1100A>G (p.Gln367Arg)	SEMA4B (Q211R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360017	NM_198925.4(SEMA4B):c.1169C>T (p.Pro390Leu)	SEMA4B (P234L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293671	NM_198925.4(SEMA4B):c.1216G>A (p.Glu406Lys)	SEMA4B (E250K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269134	NM_198925.4(SEMA4B):c.1304G>A (p.Ser435Asn)	SEMA4B (S279N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362418	NM_198925.4(SEMA4B):c.1307G>T (p.Arg436Leu)	SEMA4B (R436L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355719	NM_198925.4(SEMA4B):c.1307G>A (p.Arg436His)	SEMA4B (R280H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559969	NM_198925.4(SEMA4B):c.1331C>T (p.Ala444Val)	SEMA4B (A288V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523016	NM_198925.4(SEMA4B):c.1333C>T (p.Arg445Cys)	SEMA4B (R445C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159765	NM_198925.4(SEMA4B):c.1342C>T (p.Arg448Cys)	SEMA4B (R448C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317320	NM_198925.4(SEMA4B):c.1414C>T (p.Arg472Trp)	SEMA4B (R472W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317325	NM_198925.4(SEMA4B):c.1415G>T (p.Arg472Leu)	SEMA4B (R334L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317314	NM_198925.4(SEMA4B):c.1444C>T (p.Arg482Trp)	SEMA4B (R326W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352494	NM_198925.4(SEMA4B):c.1445G>A (p.Arg482Gln)	SEMA4B (R344Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399259	NM_198925.4(SEMA4B):c.1457T>C (p.Ile486Thr)	SEMA4B (I330T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317787	NM_198925.4(SEMA4B):c.1484G>A (p.Gly495Glu)	SEMA4B (G495E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317317	NM_198925.4(SEMA4B):c.1492G>A (p.Val498Met)	SEMA4B (V342M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355227	NM_198925.4(SEMA4B):c.1525C>A (p.Leu509Met)	SEMA4B (L509M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245746	NM_198925.4(SEMA4B):c.1552G>T (p.Val518Leu)	SEMA4B (V528L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317316	NM_198925.4(SEMA4B):c.1612G>A (p.Ala538Thr)	SEMA4B (A548T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549637	NM_198925.4(SEMA4B):c.1630G>A (p.Ala544Thr)	SEMA4B (A554T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507746	NM_198925.4(SEMA4B):c.1639G>A (p.Gly547Ser)	SEMA4B (G409S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267608	NM_198925.4(SEMA4B):c.1657G>A (p.Val553Ile)	SEMA4B (V553I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2216065	NM_198925.4(SEMA4B):c.1712G>A (p.Gly571Glu)	SEMA4B (G415E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392774	NM_198925.4(SEMA4B):c.1737C>A (p.Ser579Arg)	SEMA4B (S441R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288340	NM_198925.4(SEMA4B):c.1806G>T (p.Gln602His)	SEMA4B (Q464H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159766	NM_198925.4(SEMA4B):c.1835C>T (p.Pro612Leu)	SEMA4B (P456L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541636	NM_198925.4(SEMA4B):c.1841T>G (p.Leu614Arg)	SEMA4B (L476R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159767	NM_198925.4(SEMA4B):c.1853C>T (p.Ala618Val)	SEMA4B (A628V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317319	NM_198925.4(SEMA4B):c.1859G>A (p.Arg620Gln)	SEMA4B (R464Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317321	NM_198925.4(SEMA4B):c.1876G>A (p.Gly626Arg)	SEMA4B (G470R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159769	NM_198925.4(SEMA4B):c.1885G>A (p.Val629Ile)	SEMA4B (V629I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2614736	NM_198925.4(SEMA4B):c.1890T>G (p.Asn630Lys)	SEMA4B (N630K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159770	NM_198925.4(SEMA4B):c.1971G>C (p.Trp657Cys)	SEMA4B (W519C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159771	NM_198925.4(SEMA4B):c.2063G>T (p.Ser688Ile)	SEMA4B (S550I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374034	NM_198925.4(SEMA4B):c.2071G>A (p.Val691Ile)	SEMA4B (V535I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159772	NM_198925.4(SEMA4B):c.2120G>A (p.Ser707Asn)	SEMA4B (S551N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273166	NM_198925.4(SEMA4B):c.2185G>A (p.Val729Met)	SEMA4B (V573M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159773	NM_198925.4(SEMA4B):c.2216G>A (p.Arg739Gln)	SEMA4B (R749Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612911	NM_198925.4(SEMA4B):c.2222G>C (p.Arg741Pro)	SEMA4B (R585P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615739	NM_198925.4(SEMA4B):c.2242C>G (p.Leu748Val)	SEMA4B (L592V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159774	NM_198925.4(SEMA4B):c.2252G>C (p.Gly751Ala)	SEMA4B (G761A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159775	NM_198925.4(SEMA4B):c.2363A>G (p.Gln788Arg)	SEMA4B (Q650R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241452	NM_198925.4(SEMA4B):c.2387G>T (p.Gly796Val)	SEMA4B (G640V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159776	NM_198925.4(SEMA4B):c.2393G>A (p.Arg798Gln)	SEMA4B (R798Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519363	NM_198925.4(SEMA4B):c.2395G>C (p.Val799Leu)	SEMA4B (V643L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491068	NM_198925.4(SEMA4B):c.2440T>C (p.Phe814Leu)	SEMA4B (F814L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262371	NM_198925.4(SEMA4B):c.2462G>C (p.Cys821Ser)	SEMA4B (C683S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366988	NM_198925.4(SEMA4B):c.2473C>T (p.Arg825Trp)	SEMA4B (R825W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466643	NM_198925.4(SEMA4B):c.2498G>A (p.Arg833His)	SEMA4B (R677H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159777	NM_198925.4(SEMA4B):c.2500G>A (p.Asp834Asn)	SEMA4B (D844N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic

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