ClinVar for MedGen (Select 375009) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2980611	NM_001611.5(ACP5):c.372_373insC (p.Lys125fs)	ACP5 (K125fs)	Insertion (frameshift variant)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
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 2972120	NM_001611.5(ACP5):c.510G>A (p.Gln170=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2969911	NM_001611.5(ACP5):c.670C>T (p.Leu224=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2959768	NM_001611.5(ACP5):c.637G>A (p.Glu213Lys)	ACP5 (E213K)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
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 2913881	NM_001611.5(ACP5):c.735+13T>A	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2880313	NM_001611.5(ACP5):c.622G>C (p.Val208Leu)	ACP5 (V208L)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2878886	NM_001611.5(ACP5):c.324C>T (p.Ala108=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2859650	NM_001611.5(ACP5):c.329A>T (p.Asn110Ile)	ACP5 (N110I)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
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 2833360	NM_001611.5(ACP5):c.822C>G (p.Val274=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely 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 2815444	NM_001611.5(ACP5):c.39G>A (p.Leu13=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2786972	NM_001611.5(ACP5):c.309C>T (p.Pro103=)	ACP5	Single nucleotide variant (synonymous 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 2755811	NM_001611.5(ACP5):c.132G>C (p.Thr44=)	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 2736805	NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter)	ACP5 (Y206*)	Single nucleotide variant (nonsense)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 2720025	NM_001611.5(ACP5):c.261+14A>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2703763	NM_001611.5(ACP5):c.262-13_262-12del	ACP5	Deletion (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2662010	NM_001611.5(ACP5):c.613C>T (p.His205Tyr)	ACP5 (H205Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2585383	NM_001611.5(ACP5):c.433C>T (p.Gln145Ter)	ACP5 (Q145*)	Single nucleotide variant (nonsense)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2585084	NM_001611.5(ACP5):c.584C>G (p.Ala195Gly)	ACP5 (A195G)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2423723	NC_000019.9:g.(?_11685825)_(11688132_?)del	ACP5	Deletion	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 2421427	NM_001611.5(ACP5):c.567G>T (p.Lys189Asn)	ACP5 (K189N)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2417776	NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)	ACP5	Deletion (inframe_deletion)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
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 2180595	NM_001611.5(ACP5):c.459T>C (p.Phe153=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2177770	NM_001611.5(ACP5):c.28C>T (p.Leu10=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2176921	NM_001611.5(ACP5):c.56C>T (p.Ala19Val)	ACP5 (A19V)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation +1 more	GUncertain significance
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 2166057	NM_001611.5(ACP5):c.520A>G (p.Arg174Gly)	ACP5 (R174G)	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 2159896	NM_001611.5(ACP5):c.8T>C (p.Met3Thr)	ACP5 (M3T)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2157480	NM_001611.5(ACP5):c.90C>T (p.Ala30=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2156822	NM_001611.5(ACP5):c.702T>G (p.Thr234=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2150319	NM_001611.5(ACP5):c.531C>T (p.Asp177=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2150113	NM_001611.5(ACP5):c.412C>T (p.Arg138Cys)	ACP5 (R138C)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2145636	NM_001611.5(ACP5):c.658C>T (p.Leu220=)	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 2134218	NM_001611.5(ACP5):c.550C>T (p.Gln184Ter)	ACP5 (Q184*)	Single nucleotide variant (nonsense)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 2124599	NM_001611.5(ACP5):c.5A>C (p.Asp2Ala)	ACP5 (D2A)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2117085	NM_001611.5(ACP5):c.109G>A (p.Val37Ile)	ACP5 (V37I)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
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 2110138	NM_001611.5(ACP5):c.628_634delinsCCTACC (p.Ser210fs)	ACP5 (S210fs)	Indel (frameshift variant)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 2109322	NM_001611.5(ACP5):c.389+17C>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2097571	NM_001611.5(ACP5):c.333T>C (p.His111=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2088876	NM_001611.5(ACP5):c.130A>G (p.Thr44Ala)	ACP5 (T44A)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2084145	NM_001611.5(ACP5):c.390-17C>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2078904	NM_001611.5(ACP5):c.18G>A (p.Ala6=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2076933	NM_001611.5(ACP5):c.188C>T (p.Ala63Val)	ACP5 (A63V)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2076645	NM_001611.5(ACP5):c.570A>T (p.Lys190Asn)	ACP5 (K190N)	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 2054445	NM_001611.5(ACP5):c.60T>C (p.Asp20=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2051011	NM_001611.5(ACP5):c.532G>A (p.Val178Met)	ACP5 (V178M)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation +1 more	GUncertain significance
Select item 2048872	NM_001611.5(ACP5):c.583G>A (p.Ala195Thr)	ACP5 (A195T)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2032088	NM_001611.5(ACP5):c.651C>A (p.Thr217=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2030290	NM_001611.5(ACP5):c.654_658del (p.Cys219fs)	ACP5 (C219fs)	Deletion (frameshift variant)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 2024858	NM_001611.5(ACP5):c.735+10del	ACP5	Deletion (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
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 2022236	NM_001611.5(ACP5):c.366A>C (p.Ala122=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2019862	NM_001611.5(ACP5):c.51C>A (p.Ser17=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
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 2011093	NM_001611.5(ACP5):c.351C>A (p.Val117=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 2008388	NM_001611.5(ACP5):c.672_673inv (p.Arg225Trp)	ACP5 (R225W)	Inversion (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 2000477	NM_001611.5(ACP5):c.152C>A (p.Ala51Asp)	ACP5 (A51D)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 2000444	NM_001611.5(ACP5):c.389+13C>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1993108	NM_001611.5(ACP5):c.612C>A (p.Gly204=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1992583	NM_001611.5(ACP5):c.144G>A (p.Met48Ile)	ACP5 (M48I)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1992238	NM_001611.5(ACP5):c.262-15_262-12del	ACP5	Deletion (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1992076	NM_001611.5(ACP5):c.362T>C (p.Ile121Thr)	ACP5 (I121T)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1982816	NM_001611.5(ACP5):c.298C>T (p.Arg100Cys)	ACP5 (R100C)	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 1973348	NM_001611.5(ACP5):c.930G>A (p.Ser310=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1971925	NM_001611.5(ACP5):c.332A>G (p.His111Arg)	ACP5 (H111R)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	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 1958424	NM_001611.5(ACP5):c.578C>T (p.Ala193Val)	ACP5 (A193V)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1955046	NM_001611.5(ACP5):c.622G>T (p.Val208Leu)	ACP5 (V208L)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
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 1932501	NM_001611.5(ACP5):c.261+13C>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1925171	NM_001611.5(ACP5):c.389+9C>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1917834	NM_001611.5(ACP5):c.385C>T (p.Arg129Cys)	ACP5 (R129C)	Single nucleotide variant (missense variant)	Spondyloenchondrodysplasia with immune dysregulation	GUncertain significance
Select item 1901546	NM_001611.5(ACP5):c.69C>T (p.Thr23=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1897232	NM_001611.5(ACP5):c.372dup (p.Lys125Ter)	ACP5 (K125*)	Duplication (nonsense)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 1715250	NM_001611.5(ACP5):c.617A>G (p.Tyr206Cys)	ACP5 (Y206C)	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 1674964	NM_001611.5(ACP5):c.909T>C (p.Thr303=)	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 1667190	NM_001611.5(ACP5):c.438C>T (p.Thr146=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1666626	NM_001611.5(ACP5):c.390-11C>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1651866	NM_001611.5(ACP5):c.585C>G (p.Ala195=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1644368	NM_001611.5(ACP5):c.15G>A (p.Thr5=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1632310	NM_001611.5(ACP5):c.660G>C (p.Leu220=)	ACP5	Single nucleotide variant (synonymous variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1630301	NM_001611.5(ACP5):c.389+15G>T	ACP5	Single nucleotide variant (intron variant)	Spondyloenchondrodysplasia with immune dysregulation	GLikely benign
Select item 1613492	NM_001611.5(ACP5):c.420C>T (p.His140=)	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 1602959	NM_001611.5(ACP5):c.642C>T (p.His214=)	ACP5	Single nucleotide variant (synonymous 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

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