ClinVar for MedGen (Select 78654) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 179

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234094	NM_177924.5(ASAH1):c.375_379del (p.Pro126fs)	ASAH1 (P120fs +3 more)	Deletion (frameshift variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 3067866	NM_177924.5(ASAH1):c.457G>C (p.Gly153Arg)	ASAH1 (G147R +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 3067841	NM_177924.5(ASAH1):c.786-1G>T	ASAH1	Single nucleotide variant (splice acceptor variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 3066142	NM_177924.5(ASAH1):c.704G>T (p.Gly235Val)	ASAH1 (G170V +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 2826778	NM_177924.5(ASAH1):c.1042-2A>C	ASAH1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2585594	NM_177924.5(ASAH1):c.77C>T (p.Pro26Leu)	ASAH1 (P26L)	Single nucleotide variant (missense variant +1 more)	Farber lipogranulomatosis	GUncertain significance
Select item 1802199	NM_177924.5(ASAH1):c.121_125+19del	ASAH1	Deletion (splice donor variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 1698792	NM_177924.5(ASAH1):c.94A>T (p.Arg32Ter)	ASAH1 (R32* +1 more)	Single nucleotide variant (nonsense +1 more)	Farber lipogranulomatosis	GLikely pathogenic
Select item 1687065	NM_177924.5(ASAH1):c.413A>G (p.Glu138Gly)	ASAH1 (E132G +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 1580263	NM_177924.5(ASAH1):c.667C>T (p.Leu223=)	ASAH1	Single nucleotide variant (synonymous variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more	GLikely benign
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 1398318	NM_177924.5(ASAH1):c.784A>T (p.Ser262Cys)	ASAH1 (S278C +3 more)	Single nucleotide variant (missense variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more	GUncertain significance
Select item 1388513	NM_177924.5(ASAH1):c.308G>C (p.Gly103Ala)	ASAH1 (G38A +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +2 more	GUncertain significance
Select item 1323941	NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)	ASAH1 (W62* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1299375	NM_177924.5(ASAH1):c.358G>C (p.Ala120Pro)	ASAH1 (A120P +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GPathogenic
Select item 1299374	NM_177924.5(ASAH1):c.427T>G (p.Cys143Gly)	ASAH1 (C143G +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GPathogenic
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 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 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 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 1163018	NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)	ASAH1, LOC129999940 (M1I)	Single nucleotide variant (missense variant +2 more)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1031750	NM_177924.5(ASAH1):c.847C>G (p.Leu283Val)	ASAH1 (L277V +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GUncertain significance
Select item 1030358	NM_177924.5(ASAH1):c.587A>G (p.Lys196Arg)	ASAH1 (K196R +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GUncertain significance
Select item 911522	NM_177924.5(ASAH1):c.129C>T (p.Tyr43=)	ASAH1	Single nucleotide variant (synonymous variant +1 more)	Farber lipogranulomatosis	GUncertain significance
Select item 911521	NM_177924.5(ASAH1):c.261C>T (p.Phe87=)	ASAH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911470	NM_177924.5(ASAH1):c.1006C>G (p.Pro336Ala)	ASAH1 (P330A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 911469	NM_177924.5(ASAH1):c.1041+5C>T	ASAH1	Single nucleotide variant (intron variant)	Farber lipogranulomatosis	GUncertain significance
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 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 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 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 911464	NM_177924.5(ASAH1):c.*25G>A	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 911399	NM_177924.5(ASAH1):c.*885T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 911398	NM_177924.5(ASAH1):c.*926A>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	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 911268	NM_177924.5(ASAH1):c.*136G>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
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 911205	NM_177924.5(ASAH1):c.*996C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 910311	NM_177924.5(ASAH1):c.304C>A (p.Pro102Thr)	ASAH1 (P118T +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GUncertain significance
Select item 909347	NM_177924.5(ASAH1):c.559G>A (p.Val187Met)	ASAH1 (V122M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 909346	NM_177924.5(ASAH1):c.648+5G>C	ASAH1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 909345	NM_177924.5(ASAH1):c.718A>C (p.Ile240Leu)	ASAH1 (I175L +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +2 more	GUncertain significance
Select item 909274	NM_177924.5(ASAH1):c.*222T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 909273	NM_177924.5(ASAH1):c.*292C>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 909272	NM_177924.5(ASAH1):c.*353C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 908565	NM_177924.5(ASAH1):c.-40C>T	ASAH1, LOC129999940	Single nucleotide variant (5 prime UTR variant +1 more)	Farber lipogranulomatosis +1 more	GLikely benign
Select item 908564	NM_177924.5(ASAH1):c.-23G>C	ASAH1, LOC129999940	Single nucleotide variant (5 prime UTR variant +1 more)	Farber lipogranulomatosis	GUncertain significance
Select item 908563	NM_177924.5(ASAH1):c.83C>T (p.Thr28Ile)	ASAH1 (T28I +1 more)	Single nucleotide variant (missense variant +1 more)	Farber lipogranulomatosis	GUncertain significance
Select item 908496	NM_177924.5(ASAH1):c.771G>T (p.Leu257=)	ASAH1	Single nucleotide variant (synonymous variant)	Farber lipogranulomatosis +1 more	GConflicting classifications of pathogenicity
Select item 908495	NM_177924.5(ASAH1):c.823A>G (p.Ile275Val)	ASAH1 (I269V +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GUncertain significance
Select item 908494	NM_177924.5(ASAH1):c.898G>A (p.Glu300Lys)	ASAH1 (E300K +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GUncertain significance
Select item 908493	NM_177924.5(ASAH1):c.967C>T (p.Arg323Cys)	ASAH1 (R339C +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	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 908423	NM_177924.5(ASAH1):c.*459T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 908422	NM_177924.5(ASAH1):c.*617T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 812507	NM_177924.5(ASAH1):c.1098+1G>T	ASAH1	Single nucleotide variant (splice donor variant)	Farber lipogranulomatosis +1 more	GPathogenic/Likely pathogenic
Select item 812506	NM_177924.5(ASAH1):c.917+5G>A	ASAH1	Single nucleotide variant (intron variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812505	NM_177924.5(ASAH1):c.1186dup (p.Ter396LeuextTer?)	ASAH1	Duplication (frameshift variant +1 more)	Farber lipogranulomatosis	GUncertain significance
Select item 812504	NM_177924.5(ASAH1):c.704-2A>G	ASAH1	Single nucleotide variant (splice acceptor variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812503	NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro)	ASAH1 (L105P +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812502	NM_177924.5(ASAH1):c.256dup (p.Thr86fs)	ASAH1 (T21fs +2 more)	Duplication (frameshift variant +1 more)	Farber lipogranulomatosis	GPathogenic
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 812499	NM_177924.5(ASAH1):c.287TGG[1] (p.Val97del)	ASAH1 (V113del +2 more)	Microsatellite (inframe_deletion +1 more)	Farber lipogranulomatosis	GPathogenic
Select item 812498	NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg)	ASAH1 (P362R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812497	NM_177924.5(ASAH1):c.998G>A (p.Arg333His)	ASAH1 (R327H +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GConflicting classifications of pathogenicity
Select item 812496	NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter)	ASAH1 (E73* +3 more)	Single nucleotide variant (nonsense)	Farber lipogranulomatosis +1 more	GPathogenic/Likely pathogenic
Select item 812495	NM_177924.5(ASAH1):c.991G>A (p.Asp331Asn)	ASAH1 (D266N +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GConflicting classifications of pathogenicity
Select item 812494	NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser)	ASAH1 (N255S +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GLikely pathogenic
Select item 812493	NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu)	ASAH1 (P272L +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812492	NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro)	ASAH1 (L273P +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
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 812490	NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys)	ASAH1 (R327C +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GLikely pathogenic
Select item 812489	NM_177924.5(ASAH1):c.92G>T (p.Cys31Phe)	ASAH1 (C31F +1 more)	Single nucleotide variant (missense variant +1 more)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812488	NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr)	ASAH1 (P356T +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812487	NM_177924.5(ASAH1):c.677G>C (p.Arg226Pro)	ASAH1 (R220P +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812486	NM_177924.5(ASAH1):c.174dup (p.Tyr59fs)	ASAH1 (Y75fs +2 more)	Duplication (frameshift variant +1 more)	Farber lipogranulomatosis	GPathogenic
Select item 812485	NM_177924.5(ASAH1):c.626G>A (p.Gly209Asp)	ASAH1 (G203D +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GUncertain significance
Select item 812484	NM_177924.5(ASAH1):c.383-10_383-6del	ASAH1	Microsatellite (intron variant)	Farber lipogranulomatosis	GPathogenic
Select item 812483	NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys)	ASAH1 (E115K +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812481	NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe)	ASAH1	Duplication (inframe_insertion)	Farber lipogranulomatosis +1 more	GPathogenic
Select item 812480	NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)	ASAH1 (N173I +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GPathogenic
Select item 812479	NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)	ASAH1 (K360Q +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812478	NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly)	ASAH1 (R254G +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GPathogenic
Select item 812477	NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp)	ASAH1 (G162W +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GPathogenic
Select item 812476	NM_177924.5(ASAH1):c.67C>G (p.His23Asp)	ASAH1 (H23D)	Single nucleotide variant (missense variant +1 more)	Farber lipogranulomatosis	GUncertain significance
Select item 812475	NM_177924.5(ASAH1):c.593T>C (p.Val198Ala)	ASAH1 (V214A +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812474	NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu)	ASAH1 (F130L +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812473	NM_177924.5(ASAH1):c.290T>A (p.Val97Glu)	ASAH1 (V113E +2 more)	Single nucleotide variant (missense variant +1 more)	Farber lipogranulomatosis	GPathogenic
Select item 812472	NM_177924.5(ASAH1):c.290T>G (p.Val97Gly)	ASAH1 (V32G +2 more)	Single nucleotide variant (missense variant +1 more)	Farber lipogranulomatosis	GLikely pathogenic
Select item 812471	NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer)	ASAH1	Deletion (nonsense)	not provided +2 more	GPathogenic
Select item 812469	NM_177924.5(ASAH1):c.66G>C (p.Gln22His)	ASAH1 (Q22H)	Single nucleotide variant (missense variant +1 more)	Farber lipogranulomatosis	GUncertain significance
Select item 802393	NM_177924.5(ASAH1):c.216+46TATTT[3]	ASAH1	Microsatellite (intron variant)	Farber lipogranulomatosis +1 more	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 772332	NM_177924.5(ASAH1):c.382+10A>G	ASAH1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 772142	NM_177924.5(ASAH1):c.649-8T>C	ASAH1	Single nucleotide variant (intron variant)	not provided +1 more	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 692296	NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)	ASAH1 (D46N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 678180	NM_177924.5(ASAH1):c.458-68T>C	ASAH1	Single nucleotide variant (intron variant)	Farber lipogranulomatosis +2 more	GBenign

<< First< Prev

Page of 2