26220[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 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 151181	GRCh38/hg38 15q22.31(chr15:64671902-65034346)x1	ANKDD1A, LOC125078103 +34 more	Copy number loss	See cases	GUncertain significance
Select item 776913	NM_001286496.2(PIF1):c.1891G>C (p.Ala631Pro)	PIF1 (A631P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2370565	NM_001286496.2(PIF1):c.1886A>G (p.Glu629Gly)	PIF1 (E576G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776914	NM_001286496.2(PIF1):c.1876G>A (p.Asp626Asn)	PIF1 (D573N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2367750	NM_001286496.2(PIF1):c.1847G>A (p.Arg616Gln)	PIF1 (R563Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3212760	NM_001286496.2(PIF1):c.1846C>T (p.Arg616Trp)	PIF1 (R563W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787119	NM_001286496.2(PIF1):c.1844G>A (p.Arg615Gln)	PIF1 (R615Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3306467	NM_001286496.2(PIF1):c.1830C>A (p.Phe610Leu)	PIF1 (F557L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418317	NM_001286496.2(PIF1):c.1825C>A (p.His609Asn)	PIF1 (H556N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385421	NM_001286496.2(PIF1):c.1817G>A (p.Arg606His)	PIF1 (R553H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212759	NM_001286496.2(PIF1):c.1804C>T (p.Arg602Cys)	PIF1 (R602C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212758	NM_001286496.2(PIF1):c.1801G>A (p.Val601Ile)	PIF1 (V548I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768716	NM_001286496.2(PIF1):c.1775G>A (p.Arg592His)	PIF1 (R539H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3212757	NM_001286496.2(PIF1):c.1757G>A (p.Arg586His)	PIF1 (R586H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543283	NM_001286496.2(PIF1):c.1748C>G (p.Ser583Cys)	PIF1 (S530C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212756	NM_001286496.2(PIF1):c.1712G>A (p.Arg571His)	PIF1 (R518H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381303	NM_001286496.2(PIF1):c.1700T>C (p.Ile567Thr)	PIF1 (I567T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306466	NM_001286496.2(PIF1):c.1697A>C (p.Glu566Ala)	PIF1 (E513A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418320	NM_001286496.2(PIF1):c.1678A>G (p.Met560Val)	PIF1 (M507V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306461	NM_001286496.2(PIF1):c.1621C>T (p.Arg541Trp)	PIF1 (R488W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645444	NM_001286496.2(PIF1):c.1602C>T (p.Thr534=)	PIF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2350897	NM_001286496.2(PIF1):c.1583G>A (p.Arg528His)	PIF1 (R528H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345635	NM_001286496.2(PIF1):c.1576G>A (p.Ala526Thr)	PIF1 (A473T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418326	NM_001286496.2(PIF1):c.1552T>C (p.Cys518Arg)	PIF1 (C465R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212754	NM_001286496.2(PIF1):c.1535C>G (p.Pro512Arg)	PIF1 (P459R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781296	NM_001286496.2(PIF1):c.1500G>A (p.Val500=)	PIF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2614330	NM_001286496.2(PIF1):c.1466T>C (p.Val489Ala)	PIF1 (V436A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468021	NM_001286496.2(PIF1):c.1442T>C (p.Val481Ala)	PIF1 (V428A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735180	NM_001286496.2(PIF1):c.1433G>C (p.Gly478Ala)	PIF1 (G425A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3306463	NM_001286496.2(PIF1):c.1415T>A (p.Leu472His)	PIF1 (L419H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212753	NM_001286496.2(PIF1):c.1363A>G (p.Ser455Gly)	PIF1 (S455G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418321	NM_001286496.2(PIF1):c.1309G>A (p.Glu437Lys)	PIF1 (E437K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271142	NM_001286496.2(PIF1):c.1304C>G (p.Thr435Ser)	PIF1 (T382S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212752	NM_001286496.2(PIF1):c.1291G>A (p.Asp431Asn)	PIF1 (D431N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281793	NM_001286496.2(PIF1):c.1279A>G (p.Thr427Ala)	PIF1 (T427A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212750	NM_001286496.2(PIF1):c.1277G>A (p.Cys426Tyr)	PIF1 (C373Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306469	NM_001286496.2(PIF1):c.1264G>A (p.Ala422Thr)	PIF1 (A422T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212749	NM_001286496.2(PIF1):c.1258A>G (p.Ile420Val)	PIF1 (I420V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212748	NM_001286496.2(PIF1):c.1250G>A (p.Arg417Gln)	PIF1 (R364Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418322	NM_001286496.2(PIF1):c.1211C>A (p.Thr404Asn)	PIF1 (T351N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781297	NM_001286496.2(PIF1):c.1128G>A (p.Leu376=)	PIF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2228047	NM_001286496.2(PIF1):c.1106G>A (p.Cys369Tyr)	PIF1 (C316Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363548	NM_001286496.2(PIF1):c.1072C>T (p.Arg358Trp)	PIF1 (R305W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212747	NM_001286496.2(PIF1):c.1070C>A (p.Pro357Gln)	PIF1 (P304Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418313	NM_001286496.2(PIF1):c.1069C>T (p.Pro357Ser)	PIF1 (P304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332270	NM_001286496.2(PIF1):c.1061C>T (p.Ser354Phe)	PIF1 (S301F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645445	NM_001286496.2(PIF1):c.1053C>T (p.Thr351=)	PIF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512893	NM_001286496.2(PIF1):c.980G>A (p.Arg327Gln)	PIF1 (R274Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404047	NM_001286496.2(PIF1):c.977T>C (p.Val326Ala)	PIF1 (V273A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418314	NM_001286496.2(PIF1):c.964G>A (p.Val322Met)	PIF1 (V322M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312686	NM_001286496.2(PIF1):c.899G>C (p.Cys300Ser)	PIF1 (C247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533993	NM_001286496.2(PIF1):c.870G>T (p.Arg290Ser)	PIF1 (R290S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533992	NM_001286496.2(PIF1):c.869G>A (p.Arg290Lys)	PIF1 (R237K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399708	NM_001286496.2(PIF1):c.848A>C (p.Gln283Pro)	PIF1 (Q230P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592644	NM_001286496.2(PIF1):c.823G>A (p.Gly275Ser)	PIF1 (G275S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603327	NM_001286496.2(PIF1):c.790G>A (p.Gly264Arg)	PIF1 (G211R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418323	NM_001286496.2(PIF1):c.754G>T (p.Ala252Ser)	PIF1 (A199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738044	NM_001286496.2(PIF1):c.735G>T (p.Leu245=)	PIF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3418324	NM_001286496.2(PIF1):c.719G>A (p.Arg240Gln)	PIF1 (R187Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212773	NM_001286496.2(PIF1):c.649G>A (p.Ala217Thr)	PIF1 (A217T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212772	NM_001286496.2(PIF1):c.634G>T (p.Ala212Ser)	PIF1 (A159S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212770	NM_001286496.2(PIF1):c.590G>A (p.Arg197Lys)	PIF1 (R144K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514955	NM_001286496.2(PIF1):c.589A>T (p.Arg197Trp)	PIF1 (R197W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418319	NM_001286496.2(PIF1):c.580C>T (p.Pro194Ser)	PIF1 (P141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418315	NM_001286496.2(PIF1):c.526G>A (p.Val176Met)	PIF1 (V123M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 812694	NM_001286496.2(PIF1):c.506C>T (p.Thr169Ile)	PIF1 (T116I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380885	NM_001286496.2(PIF1):c.473G>A (p.Arg158Gln)	PIF1 (R105Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212768	NM_001286496.2(PIF1):c.431C>A (p.Pro144His)	PIF1 (P91H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212767	NM_001286496.2(PIF1):c.389C>A (p.Pro130His)	PIF1 (P130H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275436	NM_001286496.2(PIF1):c.389C>T (p.Pro130Leu)	PIF1 (P130L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548803	NM_001286496.2(PIF1):c.368A>G (p.Lys123Arg)	PIF1 (K70R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212766	NM_001286496.2(PIF1):c.347T>C (p.Phe116Ser)	PIF1 (F116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569280	NM_001286496.2(PIF1):c.314T>A (p.Leu105His)	PIF1 (L105H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418316	NM_001286496.2(PIF1):c.313C>G (p.Leu105Val)	PIF1 (L105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387366	NM_001286496.2(PIF1):c.305A>G (p.Gln102Arg)	PIF1 (Q102R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262950	NM_001286496.2(PIF1):c.286C>T (p.Pro96Ser)	PIF1 (P96S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383748	NM_001286496.2(PIF1):c.274G>A (p.Ala92Thr)	PIF1 (A39T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212765	NM_001286496.2(PIF1):c.269T>A (p.Leu90His)	PIF1 (L37H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306462	NM_001286496.2(PIF1):c.263T>C (p.Leu88Pro)	PIF1 (L88P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212764	NM_001286496.2(PIF1):c.251G>A (p.Gly84Glu)	PIF1 (G31E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306468	NM_001286496.2(PIF1):c.226C>T (p.Leu76Phe)	PIF1 (L23F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621074	NM_001286496.2(PIF1):c.220G>C (p.Ala74Pro)	PIF1 (A21P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3418325	NM_001286496.2(PIF1):c.212T>C (p.Leu71Pro)	PIF1 (L71P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614159	NM_001286496.2(PIF1):c.208C>T (p.Pro70Ser)	PIF1 (P17S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291256	NM_001286496.2(PIF1):c.190G>C (p.Gly64Arg)	PIF1 (G64R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212763	NM_001286496.2(PIF1):c.188C>A (p.Ala63Glu)	PIF1 (A10E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212761	NM_001286496.2(PIF1):c.187G>A (p.Ala63Thr)	PIF1 (A10T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212327	NM_001286496.2(PIF1):c.185C>T (p.Pro62Leu)	PIF1 (P62L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212771	NM_001286496.2(PIF1):c.59G>C (p.Arg20Pro)	PIF1 (R20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259018	NM_001286496.2(PIF1):c.44C>G (p.Ser15Trp)	PIF1 (S15W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541593	NM_001286496.2(PIF1):c.23C>A (p.Ala8Glu)	PIF1 (A8E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590517	NM_001286496.2(PIF1):c.19G>A (p.Ala7Thr)	PIF1 (A7T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3306470	NM_001286496.2(PIF1):c.8C>T (p.Ser3Leu)	PIF1 (S3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3392161	GRCh37/hg19 15q22.31(chr15:64920533-66013473)x3	ANKDD1A, CILP +22 more	Copy number gain	not provided	GUncertain significance
Select item 1526465	GRCh37/hg19 15q22.31(chr15:64978681-65679053)	ANKDD1A, CILP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980529	GRCh37/hg19 15q22.31(chr15:64705736-65178188)x3	TRIP4, OAZ2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic

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