ASAH1[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 882

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 362349	NM_177924.5(ASAH1):c.*1103C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362350	NM_177924.5(ASAH1):c.*1073C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 911205	NM_177924.5(ASAH1):c.*996C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362351	NM_177924.5(ASAH1):c.*961A>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362352	NM_177924.5(ASAH1):c.*933T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362353	NM_177924.5(ASAH1):c.*932C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 911398	NM_177924.5(ASAH1):c.*926A>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GBenign
Select item 362354	NM_177924.5(ASAH1):c.*926A>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 911399	NM_177924.5(ASAH1):c.*885T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 911400	NM_177924.5(ASAH1):c.*794A>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362355	NM_177924.5(ASAH1):c.*738C>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 362356	NM_177924.5(ASAH1):c.*729T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 362357	NM_177924.5(ASAH1):c.708_711del	ASAH1	Deletion (3 prime UTR variant)	Farber lipogranulomatosis	GBenign
Select item 362358	NM_177924.5(ASAH1):c.*695C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362359	NM_177924.5(ASAH1):c.*687C>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 362360	NM_177924.5(ASAH1):c.*686T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 2658455	NM_177924.5(ASAH1):c.*618C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 908422	NM_177924.5(ASAH1):c.*617T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362361	NM_177924.5(ASAH1):c.*501T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 908423	NM_177924.5(ASAH1):c.*459T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 908424	NM_177924.5(ASAH1):c.*373C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362362	NM_177924.5(ASAH1):c.*368C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GLikely benign
Select item 362363	NM_177924.5(ASAH1):c.*356C>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GLikely benign
Select item 909272	NM_177924.5(ASAH1):c.*353C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362364	NM_177924.5(ASAH1):c.*334G>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 909273	NM_177924.5(ASAH1):c.*292C>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
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 909274	NM_177924.5(ASAH1):c.*222T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
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 362368	NM_177924.5(ASAH1):c.*178A>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 1252163	NM_177924.5(ASAH1):c.*177del	ASAH1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 362369	NM_177924.5(ASAH1):c.176_177del	ASAH1	Deletion (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GUncertain significance
Select item 1267034	NM_177924.5(ASAH1):c.*171del	ASAH1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 911267	NM_177924.5(ASAH1):c.*171T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GUncertain significance
Select item 362370	NM_177924.5(ASAH1):c.*164T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
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 911268	NM_177924.5(ASAH1):c.*136G>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
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 911269	NM_177924.5(ASAH1):c.*103G>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +1 more	GUncertain significance
Select item 911464	NM_177924.5(ASAH1):c.*25G>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 812505	NM_177924.5(ASAH1):c.1186dup (p.Ter396LeuextTer?)	ASAH1	Duplication (frameshift variant +1 more)	Farber lipogranulomatosis	GUncertain significance
Select item 2860985	NM_177924.5(ASAH1):c.1182T>G (p.Gly394=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929407	NM_177924.5(ASAH1):c.1178T>G (p.Ile393Arg)	ASAH1 (I387R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812491	NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr)	ASAH1 (C408Y +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 1431525	NM_177924.5(ASAH1):c.1169A>G (p.Asp390Gly)	ASAH1 (D325G +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +2 more	GUncertain significance
Select item 2418507	NM_177924.5(ASAH1):c.1166C>G (p.Pro389Arg)	ASAH1 (P324R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031459	NM_177924.5(ASAH1):c.1159G>A (p.Asp387Asn)	ASAH1 (D387N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709286	NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)	ASAH1 (R321Q +3 more)	Single nucleotide variant (missense variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	GLikely pathogenic
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 417797	NM_177924.5(ASAH1):c.1154T>C (p.Leu385Pro)	ASAH1 (L401P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911465	NM_177924.5(ASAH1):c.1153C>T (p.Leu385=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1588660	NM_177924.5(ASAH1):c.1149T>C (p.Thr383=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 911466	NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys)	ASAH1 (E376K +3 more)	Single nucleotide variant (missense variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more	GUncertain significance
Select item 746067	NM_177924.5(ASAH1):c.1143C>T (p.Phe381=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1403494	NM_177924.5(ASAH1):c.1142T>C (p.Phe381Ser)	ASAH1 (F316S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934906	NM_177924.5(ASAH1):c.1140A>G (p.Gln380=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500812	NM_177924.5(ASAH1):c.1140A>T (p.Gln380His)	ASAH1 (Q396H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025668	NM_177924.5(ASAH1):c.1138C>T (p.Gln380Ter)	ASAH1 (Q380* +3 more)	Single nucleotide variant (nonsense)	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 3007666	NM_177924.5(ASAH1):c.1133A>T (p.Lys378Ile)	ASAH1 (K313I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2024160	NM_177924.5(ASAH1):c.1131C>T (p.Thr377=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371594	NM_177924.5(ASAH1):c.1126G>A (p.Val376Ile)	ASAH1 (V392I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351164	NM_177924.5(ASAH1):c.1120A>G (p.Ile374Val)	ASAH1 (I368V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954674	NM_177924.5(ASAH1):c.1119G>A (p.Leu373=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135384	NM_177924.5(ASAH1):c.1117T>G (p.Leu373Val)	ASAH1 (L373V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945822	NM_177924.5(ASAH1):c.1117T>C (p.Leu373=)	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 1556259	NM_177924.5(ASAH1):c.1110C>T (p.Tyr370=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 911467	NM_177924.5(ASAH1):c.1107A>T (p.Val369=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1405478	NM_177924.5(ASAH1):c.1106T>C (p.Val369Ala)	ASAH1 (V363A +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 1604361	NM_177924.5(ASAH1):c.1104C>T (p.Thr368=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1382243	NM_177924.5(ASAH1):c.1104C>A (p.Thr368=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1959713	NM_177924.5(ASAH1):c.1099-2A>G	ASAH1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1537003	NM_177924.5(ASAH1):c.1099-7C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935445	NM_177924.5(ASAH1):c.1099-11T>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2141098	NM_177924.5(ASAH1):c.1099-12C>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649377	NM_177924.5(ASAH1):c.1099-14A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648841	NM_177924.5(ASAH1):c.1099-15T>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810021	NM_177924.5(ASAH1):c.1099-17A>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1474465	NM_177924.5(ASAH1):c.1099-18A>G	ASAH1	Single nucleotide variant (intron 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 1596949	NM_177924.5(ASAH1):c.1098+19G>T	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579806	NM_177924.5(ASAH1):c.1098+19G>A	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566319	NM_177924.5(ASAH1):c.1098+18T>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1514269	NM_177924.5(ASAH1):c.1098+18T>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031746	NM_177924.5(ASAH1):c.1098+17A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027790	NM_177924.5(ASAH1):c.1098+16del	ASAH1	Deletion (intron variant)	not provided	GLikely benign
Select item 1615850	NM_177924.5(ASAH1):c.1098+16T>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1461103	NM_177924.5(ASAH1):c.1098+15A>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068920	NM_177924.5(ASAH1):c.1098+11T>C	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640220	NM_177924.5(ASAH1):c.1098+11T>G	ASAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 9