SKIL[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	LOC129389166, LOC129389167 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 2478095	NM_005414.5(SKIL):c.41C>T (p.Ser14Leu)	SKIL (S14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479227	NM_005414.5(SKIL):c.61A>G (p.Met21Val)	SKIL (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545275	NM_005414.5(SKIL):c.70G>C (p.Asp24His)	SKIL (D24H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162688	NM_005414.5(SKIL):c.199G>C (p.Glu67Gln)	SKIL (E47Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539344	NM_005414.5(SKIL):c.344G>T (p.Ser115Ile)	SKIL (S115I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162689	NM_005414.5(SKIL):c.442G>A (p.Val148Met)	SKIL (V148M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605619	NM_005414.5(SKIL):c.494T>A (p.Leu165His)	SKIL (L145H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395222	NM_005414.5(SKIL):c.574A>T (p.Ile192Leu)	SKIL (I172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459869	NM_005414.5(SKIL):c.593C>G (p.Thr198Ser)	SKIL (T198S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616713	NM_005414.5(SKIL):c.704G>A (p.Arg235Gln)	SKIL (R215Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725671	NM_005414.5(SKIL):c.708A>G (p.Pro236=)	SKIL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2344495	NM_005414.5(SKIL):c.740C>T (p.Pro247Leu)	SKIL (P247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162690	NM_005414.5(SKIL):c.773C>G (p.Thr258Ser)	SKIL (T238S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508120	NM_005414.5(SKIL):c.848A>G (p.Gln283Arg)	SKIL (Q283R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161532	NM_005414.5(SKIL):c.942A>T (p.Arg314Ser)	SKIL (R314S +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3162678	NM_005414.5(SKIL):c.1082A>C (p.Lys361Thr)	SKIL (K341T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403487	NM_005414.5(SKIL):c.1085G>A (p.Arg362Lys)	SKIL (R342K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224964	NM_005414.5(SKIL):c.1130C>T (p.Ser377Leu)	SKIL (S377L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162680	NM_005414.5(SKIL):c.1144A>G (p.Ile382Val)	SKIL (I362V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339907	NM_005414.5(SKIL):c.1207T>C (p.Tyr403His)	LOC129389168, SKIL (Y403H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162681	NM_005414.5(SKIL):c.1310A>T (p.Gln437Leu)	LOC129389168, SKIL (Q417L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162682	NM_005414.5(SKIL):c.1369T>C (p.Ser457Pro)	LOC129389168, SKIL (S437P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162683	NM_005414.5(SKIL):c.1372C>T (p.Leu458Phe)	LOC129389168, SKIL (L458F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455677	NM_005414.5(SKIL):c.1424G>A (p.Arg475His)	SKIL (R455H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2391036	NM_005414.5(SKIL):c.1438A>G (p.Ile480Val)	SKIL (I460V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557648	NM_005414.5(SKIL):c.1453A>G (p.Thr485Ala)	SKIL (T439A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266412	NM_005414.5(SKIL):c.1486A>C (p.Asn496His)	SKIL (N496H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480647	NM_005414.5(SKIL):c.1507A>C (p.Lys503Gln)	SKIL (K503Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522604	NM_005414.5(SKIL):c.1535C>A (p.Ala512Asp)	SKIL (A466D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162684	NM_005414.5(SKIL):c.1608A>T (p.Arg536Ser)	SKIL (R490S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534573	NM_005414.5(SKIL):c.1699T>G (p.Ser567Ala)	SKIL (S521A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260491	NM_005414.5(SKIL):c.1723C>A (p.Gln575Lys)	SKIL (Q529K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162685	NM_005414.5(SKIL):c.1789T>C (p.Tyr597His)	SKIL (Y551H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162686	NM_005414.5(SKIL):c.1801A>G (p.Lys601Glu)	SKIL (K601E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339908	NM_005414.5(SKIL):c.1861T>G (p.Leu621Val)	SKIL (L621V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325405	NM_005414.5(SKIL):c.1921G>T (p.Asp641Tyr)	SKIL (D641Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548896	NM_005414.5(SKIL):c.1973G>T (p.Arg658Leu)	SKIL (R638L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247848	NM_005414.5(SKIL):c.1988A>G (p.Lys663Arg)	SKIL (K617R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777376	NM_005414.5(SKIL):c.1997T>A (p.Met666Lys)	SKIL (M620K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1390486	NC_000003.11:g.(?_169482388)_(170130102_?)dup	ACTRT3, GPR160 +10 more	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 63