ClinVar for Gene (Select 23341) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273106	NM_015291.4(DNAJC16):c.596A>G (p.His199Arg)	DNAJC16 (H199R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3273104	NM_015291.4(DNAJC16):c.1183A>G (p.Thr395Ala)	DNAJC16 (T395A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3273103	NM_015291.4(DNAJC16):c.611G>A (p.Arg204Lys)	DNAJC16 (R204K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3273102	NM_015291.4(DNAJC16):c.160C>T (p.Arg54Trp)	DNAJC16 (R54W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273101	NM_015291.4(DNAJC16):c.652A>G (p.Ile218Val)	DNAJC16 (I218V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3273100	NM_015291.4(DNAJC16):c.1994G>C (p.Arg665Thr)	DNAJC16 (R665T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3084516	NM_015291.4(DNAJC16):c.947G>A (p.Arg316Gln)	DNAJC16 (R316Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3084515	NM_015291.4(DNAJC16):c.886G>T (p.Asp296Tyr)	DNAJC16 (D296Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3084514	NM_015291.4(DNAJC16):c.764C>G (p.Thr255Arg)	DNAJC16 (T255R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3084513	NM_015291.4(DNAJC16):c.703C>T (p.Arg235Cys)	DNAJC16 (R235C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3084512	NM_015291.4(DNAJC16):c.622C>T (p.His208Tyr)	DNAJC16 (H208Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3084511	NM_015291.4(DNAJC16):c.617T>A (p.Leu206Gln)	DNAJC16 (L206Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3084510	NM_015291.4(DNAJC16):c.2305T>C (p.Ser769Pro)	DNAJC16 (S769P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084509	NM_015291.4(DNAJC16):c.204C>G (p.Asp68Glu)	DNAJC16 (D68E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3084508	NM_015291.4(DNAJC16):c.1666G>T (p.Val556Phe)	DNAJC16 (V556F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084507	NM_015291.4(DNAJC16):c.1654G>A (p.Gly552Ser)	DNAJC16 (G552S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084506	NM_015291.4(DNAJC16):c.11G>C (p.Arg4Thr)	DNAJC16 (R4T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084505	NM_015291.4(DNAJC16):c.1145G>A (p.Arg382Gln)	DNAJC16 (R382Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084504	NM_015291.4(DNAJC16):c.1121T>A (p.Leu374His)	DNAJC16 (L62H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084503	NM_015291.4(DNAJC16):c.1067G>A (p.Arg356Gln)	DNAJC16 (R44Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3062911	GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	AGMAT, CASP9 +13 more	Copy number loss	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2621269	NM_015291.4(DNAJC16):c.1850G>A (p.Arg617His)	DNAJC16 (R617H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606228	NM_015291.4(DNAJC16):c.1796G>C (p.Gly599Ala)	DNAJC16 (G599A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598022	NM_015291.4(DNAJC16):c.856T>A (p.Leu286Ile)	DNAJC16 (L286I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2594342	NM_015291.4(DNAJC16):c.1680C>T (p.Ser560=)	DNAJC16	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2538522	NM_015291.4(DNAJC16):c.805G>A (p.Glu269Lys)	DNAJC16 (E269K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2493202	NM_015291.4(DNAJC16):c.341A>G (p.His114Arg)	DNAJC16 (H114R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2492791	NM_015291.4(DNAJC16):c.527A>T (p.His176Leu)	DNAJC16 (H176L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2478676	NM_015291.4(DNAJC16):c.1206T>G (p.Phe402Leu)	DNAJC16 (F402L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465183	NM_015291.4(DNAJC16):c.1648C>T (p.Leu550Phe)	DNAJC16 (L238F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464408	NM_015291.4(DNAJC16):c.1339G>A (p.Val447Met)	DNAJC16 (V135M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2410439	NM_015291.4(DNAJC16):c.661A>G (p.Ile221Val)	DNAJC16 (I221V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2408719	NM_015291.4(DNAJC16):c.1358G>A (p.Arg453His)	DNAJC16 (R141H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388840	NM_015291.4(DNAJC16):c.26C>T (p.Ser9Phe)	DNAJC16 (S9F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388577	NM_015291.4(DNAJC16):c.1274A>G (p.Asn425Ser)	DNAJC16 (N113S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342510	NM_015291.4(DNAJC16):c.425A>G (p.Tyr142Cys)	DNAJC16 (Y142C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2332179	NM_015291.4(DNAJC16):c.2213C>T (p.Ser738Phe)	DNAJC16 (S426F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330686	NM_015291.4(DNAJC16):c.2126G>A (p.Cys709Tyr)	DNAJC16 (C397Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313274	NM_015291.4(DNAJC16):c.238C>T (p.Leu80Phe)	DNAJC16 (L80F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2308791	NM_015291.4(DNAJC16):c.1012G>T (p.Asp338Tyr)	DNAJC16 (D26Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285436	NM_015291.4(DNAJC16):c.1979G>C (p.Ser660Thr)	DNAJC16 (S348T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276569	NM_015291.4(DNAJC16):c.1417A>G (p.Ser473Gly)	DNAJC16 (S473G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229517	NM_015291.4(DNAJC16):c.1035G>A (p.Met345Ile)	DNAJC16 (M33I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222643	NM_015291.4(DNAJC16):c.593T>C (p.Val198Ala)	DNAJC16 (V198A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2218981	NM_015291.4(DNAJC16):c.1816C>T (p.Leu606Phe)	DNAJC16 (L606F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217675	NM_015291.4(DNAJC16):c.338G>A (p.Arg113His)	DNAJC16 (R113H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2213978	NM_015291.4(DNAJC16):c.1028G>A (p.Arg343Gln)	DNAJC16 (R343Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1206213	NM_015291.4(DNAJC16):c.1199A>C (p.Lys400Thr)	DNAJC16 (K400T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1065840	NM_015291.4(DNAJC16):c.718C>T (p.Gln240Ter)	DNAJC16 (Q240*)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia	GAffects
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584380	NC_000001.10:g.(?_15764961)_(16063358_?)del	AGMAT, CASP9 +8 more	Deletion	Hereditary pancreatitis	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 76