"GeneDx"[submitter] AND "ASAH1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 362365	NM_177924.5(ASAH1):c.*244C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 362366	NM_177924.5(ASAH1):c.*200C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign/Likely benign
Select item 362367	NM_177924.5(ASAH1):c.*184T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1252163	NM_177924.5(ASAH1):c.*177del	ASAH1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1267034	NM_177924.5(ASAH1):c.*171del	ASAH1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 362371	NM_177924.5(ASAH1):c.*160T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362372	NM_177924.5(ASAH1):c.*124T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +2 more	GBenign
Select item 691801	NM_177924.5(ASAH1):c.1156C>T (p.Arg386Trp)	ASAH1 (R380W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187933	NM_177924.5(ASAH1):c.1137T>A (p.Gly379=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424819	NM_177924.5(ASAH1):c.1114A>G (p.Thr372Ala)	ASAH1 (T366A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 362373	NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile)	ASAH1 (V369I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2975403	NM_177924.5(ASAH1):c.1102A>G (p.Thr368Ala)	ASAH1 (T368A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223238	NM_177924.5(ASAH1):c.1099-58A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179944	NM_177924.5(ASAH1):c.1099-122_1099-121insAC	ASAH1	Insertion (intron variant)	not provided	GBenign
Select item 1295817	NM_177924.5(ASAH1):c.1099-167A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226358	NM_177924.5(ASAH1):c.1099-209T>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249893	NM_177924.5(ASAH1):c.1099-283G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678049	NM_177924.5(ASAH1):c.1098+120T>G	ASAH1	Single nucleotide variant (intron variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more	GBenign
Select item 1223849	NM_177924.5(ASAH1):c.1098+36G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 911468	NM_177924.5(ASAH1):c.1079C>T (p.Thr360Ile)	ASAH1 (T376I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 678048	NM_177924.5(ASAH1):c.1042-153G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678047	NM_177924.5(ASAH1):c.1042-199del	ASAH1	Deletion (intron variant)	not provided	GBenign
Select item 1213108	NM_177924.5(ASAH1):c.1041+133G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228300	NM_177924.5(ASAH1):c.1041+98C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215267	NM_177924.5(ASAH1):c.1041+19C>A	ASAH1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 691803	NM_177924.5(ASAH1):c.1033A>G (p.Ser345Gly)	ASAH1 (S280G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691802	NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met)	ASAH1 (T270M +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GConflicting classifications of pathogenicity
Select item 373542	NM_177924.5(ASAH1):c.994G>C (p.Asp332His)	ASAH1 (D332H +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1260810	NM_177924.5(ASAH1):c.918-36T>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812508	NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)	ASAH1 (R231* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 692208	NM_177924.5(ASAH1):c.884C>T (p.Thr295Ile)	ASAH1 (T230I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1231107	NM_177924.5(ASAH1):c.786-134G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209260	NM_177924.5(ASAH1):c.786-150C>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271975	NM_177924.5(ASAH1):c.786-216G>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181631	NM_177924.5(ASAH1):c.786-241_786-240del	ASAH1	Deletion (intron variant)	not provided	GBenign
Select item 678189	NM_177924.5(ASAH1):c.786-241A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201399	NM_177924.5(ASAH1):c.786-257C>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202707	NM_177924.5(ASAH1):c.786-281G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180194	NM_177924.5(ASAH1):c.785+273C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223901	NM_177924.5(ASAH1):c.785+160C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238217	NM_177924.5(ASAH1):c.785+143A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179792	NM_177924.5(ASAH1):c.785+118G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259283	NM_177924.5(ASAH1):c.737T>C (p.Val246Ala)	ASAH1 (V262A +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 362375	NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp)	ASAH1 (G235D +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GConflicting classifications of pathogenicity
Select item 259282	NM_177924.5(ASAH1):c.704-19T>C	ASAH1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 679007	NM_177924.5(ASAH1):c.704-31C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238063	NM_177924.5(ASAH1):c.704-64G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772141	NM_177924.5(ASAH1):c.666A>G (p.Thr222=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 772142	NM_177924.5(ASAH1):c.649-8T>C	ASAH1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1207488	NM_177924.5(ASAH1):c.649-191C>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276624	NM_177924.5(ASAH1):c.649-221T>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181151	NM_177924.5(ASAH1):c.648+220C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 505533	NM_177924.5(ASAH1):c.648+1G>C	ASAH1	Single nucleotide variant (splice donor variant)	Farber lipogranulomatosis +1 more	GLikely pathogenic
Select item 362376	NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)	ASAH1 (M210T +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 362377	NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)	ASAH1 (Y223F +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1196590	NM_177924.5(ASAH1):c.504-115T>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252901	NM_177924.5(ASAH1):c.504-145A>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208719	NM_177924.5(ASAH1):c.504-176C>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212311	NM_177924.5(ASAH1):c.503+224G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186686	NM_177924.5(ASAH1):c.503+210T>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183094	NM_177924.5(ASAH1):c.503+127G>A	ASAH1	Single nucleotide variant (intron variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more	GBenign
Select item 1192331	NM_177924.5(ASAH1):c.503+71G>A	ASAH1	Single nucleotide variant (intron variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more	GBenign
Select item 707112	NM_177924.5(ASAH1):c.459T>A (p.Gly153=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 679652	NM_177924.5(ASAH1):c.458-41T>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679651	NM_177924.5(ASAH1):c.458-44A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678180	NM_177924.5(ASAH1):c.458-68T>C	ASAH1	Single nucleotide variant (intron variant)	Farber lipogranulomatosis +2 more	GBenign
Select item 1192332	NM_177924.5(ASAH1):c.458-81T>A	ASAH1	Single nucleotide variant (intron variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more	GBenign
Select item 1276476	NM_177924.5(ASAH1):c.458-201C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263338	NM_177924.5(ASAH1):c.458-255dup	ASAH1	Duplication (intron variant)	not provided	GBenign
Select item 1207680	NM_177924.5(ASAH1):c.458-255_458-253dup	ASAH1	Duplication (intron variant)	not provided	GLikely benign
Select item 1198939	NM_177924.5(ASAH1):c.458-255_458-254dup	ASAH1	Duplication (intron variant)	not provided	GLikely benign
Select item 1179617	NM_177924.5(ASAH1):c.458-256_458-255insCA	ASAH1	Insertion (intron variant)	not provided	GBenign
Select item 683289	NM_177924.5(ASAH1):c.457+293C>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178460	NM_177924.5(ASAH1):c.457+156C>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186250	NM_177924.5(ASAH1):c.457+138T>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188362	NM_177924.5(ASAH1):c.457+108G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203268	NM_177924.5(ASAH1):c.457+93C>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259281	NM_177924.5(ASAH1):c.457+45A>G	ASAH1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 812501	NM_177924.5(ASAH1):c.457+4A>G	ASAH1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 180643	NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)	ASAH1 (K152N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92	NM_177924.5(ASAH1):c.413A>T (p.Glu138Val)	ASAH1 (E138V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1194172	NM_177924.5(ASAH1):c.383-67C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276658	NM_177924.5(ASAH1):c.383-80_383-73del	ASAH1	Deletion (intron variant)	not provided	GBenign
Select item 1292915	NM_177924.5(ASAH1):c.383-114C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188274	NM_177924.5(ASAH1):c.383-121A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217913	NM_177924.5(ASAH1):c.383-213G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195196	NM_177924.5(ASAH1):c.383-247G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211182	NM_177924.5(ASAH1):c.383-288C>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242805	NM_177924.5(ASAH1):c.382+149C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190916	NM_177924.5(ASAH1):c.382+119_382+120insATACAGCACAGGTGCTGTATGTCTTAGATATACAGCACAGGTGCTGTATGTCTTAGAT	ASAH1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 672673	NM_177924.5(ASAH1):c.382+91_382+119dup	ASAH1	Duplication (intron variant)	not provided	GBenign
Select item 1220860	NM_177924.5(ASAH1):c.382+87_382+116del	ASAH1	Deletion (intron variant)	not provided	GBenign
Select item 802392	NM_177924.5(ASAH1):c.382+84C>A	ASAH1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1182876	NM_177924.5(ASAH1):c.382+59A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362381	NM_177924.5(ASAH1):c.372T>A (p.Asp124Glu)	ASAH1 (D140E +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 362382	NM_177924.5(ASAH1):c.361G>A (p.Ala121Thr)	ASAH1 (A121T +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GUncertain significance

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