Dicyclohexyl tartrate - ClinVar - NCBI

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The following term was not found in ClinVar: Dicyclohexyl.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 2022497	NM_001611.5(ACP5):c.976T>C (p.Ter326Arg)	ACP5	Single nucleotide variant (stop lost)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1403194	NM_001611.5(ACP5):c.973C>T (p.Pro325Ser)	ACP5 (P325S)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 661909	NM_001611.5(ACP5):c.971G>A (p.Arg324Lys)	ACP5 (R324K)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 656736	NM_001611.5(ACP5):c.971G>T (p.Arg324Met)	ACP5 (R324M)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1977190	NM_001611.5(ACP5):c.970A>G (p.Arg324Gly)	ACP5 (R324G)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1467493	NM_001611.5(ACP5):c.965G>A (p.Arg322Gln)	ACP5 (R322Q)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1364412	NM_001611.5(ACP5):c.964C>G (p.Arg322Gly)	ACP5 (R322G)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 848294	NM_001611.5(ACP5):c.964C>T (p.Arg322Ter)	ACP5 (R322*)	Single nucleotide variant (nonsense)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1562876	NM_001611.5(ACP5):c.963G>A (p.Arg321=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2748810	NM_001611.5(ACP5):c.960G>A (p.Pro320=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1472094	NM_001611.5(ACP5):c.959C>T (p.Pro320Leu)	ACP5 (P320L)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 712232	NM_001611.5(ACP5):c.955C>T (p.Leu319=)	ACP5	Single nucleotide variant (synonymous variant)	ACP5-related disorder +1 more	GBenign/Likely benign
Select item 2825791	NM_001611.5(ACP5):c.954G>A (p.Arg318=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 850345	NM_001611.5(ACP5):c.950C>G (p.Thr317Ser)	ACP5 (T317S)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2058212	NM_001611.5(ACP5):c.949A>G (p.Thr317Ala)	ACP5 (T317A)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1973348	NM_001611.5(ACP5):c.930G>A (p.Ser310=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2171933	NM_001611.5(ACP5):c.922G>A (p.Glu308Lys)	ACP5 (E308K)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 648847	NM_001611.5(ACP5):c.921C>G (p.Ile307Met)	ACP5 (I307M)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1715099	NM_001611.5(ACP5):c.920T>A (p.Ile307Asn)	ACP5 (I307N)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1019052	NM_001611.5(ACP5):c.919A>T (p.Ile307Phe)	ACP5 (I307F)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1061272	NM_001611.5(ACP5):c.914C>T (p.Thr305Ile)	ACP5 (T305I)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1674964	NM_001611.5(ACP5):c.909T>C (p.Thr303=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1954076	NM_001611.5(ACP5):c.902A>G (p.Glu301Gly)	ACP5 (E301G)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2285267	NM_001611.5(ACP5):c.883G>A (p.Val295Met)	ACP5 (V295M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1051895	NM_001611.5(ACP5):c.872G>A (p.Gly291Asp)	ACP5 (G291D)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1423891	NM_001611.5(ACP5):c.871G>C (p.Gly291Arg)	ACP5 (G291R)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2002233	NM_001611.5(ACP5):c.870T>C (p.Gly290=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 533475	NM_001611.5(ACP5):c.861C>T (p.Asp287=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GBenign
Select item 784607	NM_001611.5(ACP5):c.860A>C (p.Asp287Ala)	ACP5 (D287A)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation +1 more	GLikely benign
Select item 464892	NM_001611.5(ACP5):c.855T>C (p.Thr285=)	ACP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1350102	NM_001611.5(ACP5):c.854C>T (p.Thr285Ile)	ACP5 (T285I)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1040415	NM_001611.5(ACP5):c.851G>A (p.Gly284Glu)	ACP5 (G284E)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1514243	NM_001611.5(ACP5):c.848A>G (p.Tyr283Cys)	ACP5 (Y283C)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 656735	NM_001611.5(ACP5):c.846C>G (p.His282Gln)	ACP5 (H282Q)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1025415	NM_001611.5(ACP5):c.839G>A (p.Arg280His)	ACP5 (R280H)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 960213	NM_001611.5(ACP5):c.838C>T (p.Arg280Cys)	ACP5 (R280C)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 29834	NM_001611.5(ACP5):c.831_833del (p.Tyr278del)	ACP5 (Y278del)	Deletion (inframe_deletion)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1493353	NM_001611.5(ACP5):c.832T>C (p.Tyr278His)	ACP5 (Y278H)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 639798	NM_001611.5(ACP5):c.829G>A (p.Gly277Ser)	ACP5 (G277S)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 752918	NM_001611.5(ACP5):c.828C>T (p.Asn276=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1669950	NM_001611.5(ACP5):c.825C>A (p.Pro275=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 951603	NM_001611.5(ACP5):c.824C>T (p.Pro275Leu)	ACP5 (P275L)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2833360	NM_001611.5(ACP5):c.822C>G (p.Val274=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 225658	NM_001611.5(ACP5):c.816dup (p.Lys273fs)	ACP5 (K273fs)	Duplication (frameshift variant)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 968501	NM_001611.5(ACP5):c.815G>A (p.Arg272His)	ACP5 (R272H)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 198455	NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)	ACP5 (R272C)	Single nucleotide variant (missense variant)	ACP5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2847978	NM_001611.5(ACP5):c.807G>A (p.Arg269=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1431793	NM_001611.5(ACP5):c.806G>A (p.Arg269Gln)	ACP5 (R269Q)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation +1 more	GUncertain significance
Select item 639443	NM_001611.5(ACP5):c.805C>T (p.Arg269Trp)	ACP5 (R269W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1041817	NM_001611.5(ACP5):c.804G>T (p.Lys268Asn)	ACP5 (K268N)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2166049	NM_001611.5(ACP5):c.802A>G (p.Lys268Glu)	ACP5 (K268E)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1455117	NM_001611.5(ACP5):c.799del (p.Ser267fs)	ACP5 (S267fs)	Deletion (frameshift variant)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 2292694	NM_001611.5(ACP5):c.794A>G (p.Asp265Gly)	ACP5 (D265G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 29831	NM_001611.5(ACP5):c.791T>A (p.Met264Lys)	ACP5 (M264K)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely pathogenic
Select item 225659	NM_001611.5(ACP5):c.772_790del (p.Ser258fs)	ACP5 (S258fs)	Deletion (frameshift variant)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic/Likely pathogenic
Select item 1550359	NM_001611.5(ACP5):c.783G>A (p.Gly261=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1486814	NM_001611.5(ACP5):c.781G>T (p.Gly261Trp)	ACP5 (G261W)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1576229	NM_001611.5(ACP5):c.780T>C (p.Ala260=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1609344	NM_001611.5(ACP5):c.777G>T (p.Gly259=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1386974	NM_001611.5(ACP5):c.775G>A (p.Gly259Arg)	ACP5 (G259R)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1708367	NM_001611.5(ACP5):c.772A>C (p.Ser258Arg)	ACP5 (S258R)	Single nucleotide variant (missense variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 1350937	NM_001611.5(ACP5):c.766G>A (p.Val256Met)	ACP5 (V256M)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 642371	NM_001611.5(ACP5):c.766G>C (p.Val256Leu)	ACP5 (V256L)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1559532	NM_001611.5(ACP5):c.765C>T (p.Tyr255=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2975663	NM_001611.5(ACP5):c.759G>A (p.Val253=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1524240	NM_001611.5(ACP5):c.758T>C (p.Val253Ala)	ACP5 (V253A)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 855765	NM_001611.5(ACP5):c.757G>A (p.Val253Met)	ACP5 (V253M)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1554795	NM_001611.5(ACP5):c.756C>T (p.Gly252=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2138849	NM_001611.5(ACP5):c.755G>A (p.Gly252Asp)	ACP5 (G252D)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2561268	NM_001611.5(ACP5):c.743A>G (p.Gln248Arg)	ACP5 (Q248R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1968398	NM_001611.5(ACP5):c.738C>T (p.Tyr246=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 533474	NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter)	ACP5 (Y246*)	Single nucleotide variant (nonsense)	Spondyloenchondrodysplasia with immune dysregulation +1 more	GPathogenic/Likely pathogenic
Select item 1031092	NM_001611.5(ACP5):c.736-2A>G	ACP5	Single nucleotide variant (splice acceptor variant)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 1353878	NM_001611.5(ACP5):c.736-3C>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2018680	NM_001611.5(ACP5):c.736-6C>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1523830	NM_001611.5(ACP5):c.736-7T>A	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1237726	NM_001611.5(ACP5):c.735+315G>A	ACP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222772	NM_001611.5(ACP5):c.735+218C>T	ACP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1158432	NM_001611.5(ACP5):c.735+18G>A	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2759003	NM_001611.5(ACP5):c.735+15G>C	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2112175	NM_001611.5(ACP5):c.735+14G>A	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2913881	NM_001611.5(ACP5):c.735+13T>A	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2024858	NM_001611.5(ACP5):c.735+10del	ACP5	Deletion (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2913882	NM_001611.5(ACP5):c.735+8C>A	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1585107	NM_001611.5(ACP5):c.735+8C>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1546729	NM_001611.5(ACP5):c.735+7G>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1073554	NM_001611.5(ACP5):c.733C>T (p.Gln245Ter)	ACP5 (Q245*)	Single nucleotide variant (nonsense)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 842843	NM_001611.5(ACP5):c.731T>C (p.Leu244Pro)	ACP5 (L244P)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2185192	NM_001611.5(ACP5):c.730C>T (p.Leu244=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1510689	NM_001611.5(ACP5):c.721G>A (p.Asp241Asn)	ACP5 (D241N)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 1094682	NM_001611.5(ACP5):c.720C>T (p.His240=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2417776	NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)	ACP5	Deletion (inframe_deletion)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 850520	NM_001611.5(ACP5):c.715G>A (p.Gly239Ser)	ACP5 (G239S)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation +1 more	GUncertain significance
Select item 1141400	NM_001611.5(ACP5):c.714C>T (p.Cys238=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign

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