GLMN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 146293	GRCh38/hg38 1p22.1(chr1:91626400-92362203)x3	BRDT, BTBD8 +18 more	Copy number gain	See cases	GUncertain significance
Select item 57784	GRCh38/hg38 1p22.1(chr1:91811903-92334237)x3	BRDT, BTBD8 +10 more	Copy number gain	See cases	GUncertain significance
Select item 368880	NM_053274.2(GLMN):c.*143G>A	GLMN	Single nucleotide variant (genic downstream transcript variant)	Glomuvenous malformation	GLikely benign
Select item 298125	NM_053274.3(GLMN):c.*115G>C	GLMN	Single nucleotide variant (3 prime UTR variant +1 more)	Glomuvenous malformation +1 more	GBenign
Select item 298126	NM_053274.3(GLMN):c.*92T>G	GLMN	Single nucleotide variant (3 prime UTR variant +1 more)	Glomuvenous malformation	GUncertain significance
Select item 618145	NM_053274.3(GLMN):c.1720C>T (p.Arg574Ter)	GLMN (R574* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2672089	NM_053274.3(GLMN):c.1687_1688del (p.Phe563fs)	GLMN (F549fs +1 more)	Deletion (frameshift variant +1 more)	Glomuvenous malformation	GUncertain significance
Select item 2207151	NM_053274.3(GLMN):c.1688T>C (p.Phe563Ser)	GLMN (F549S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1245237	NM_053274.3(GLMN):c.1669-63G>A	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221423	NM_053274.3(GLMN):c.1668+19_1668+20del	GLMN	Deletion (intron variant)	not provided	GBenign
Select item 2536880	NM_053274.3(GLMN):c.1639C>T (p.Pro547Ser)	GLMN (P533S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 298127	NM_053274.3(GLMN):c.1635G>A (p.Glu545=)	GLMN	Single nucleotide variant (synonymous variant +1 more)	Glomuvenous malformation	GLikely benign
Select item 549853	NM_053274.3(GLMN):c.1630G>T (p.Glu544Ter)	GLMN (E544* +1 more)	Single nucleotide variant (nonsense +1 more)	Blue rubber bleb nevus	GPathogenic
Select item 1294738	NM_053274.3(GLMN):c.1586-162_1586-161del	GLMN	Deletion (intron variant)	not provided	GBenign
Select item 2672221	NM_053274.3(GLMN):c.1585+1G>A	GLMN	Single nucleotide variant (splice donor variant)	Glomuvenous malformation	GLikely pathogenic
Select item 876494	NM_053274.3(GLMN):c.1482A>T (p.Leu494Phe)	GLMN (L480F +1 more)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation	GBenign
Select item 876495	NM_053274.3(GLMN):c.1474-7T>C	GLMN	Single nucleotide variant (intron variant)	Glomuvenous malformation	GUncertain significance
Select item 298128	NM_053274.3(GLMN):c.1474-15_1474-12del	GLMN	Deletion (intron variant)	Glomuvenous malformation	GLikely benign
Select item 1289963	NM_053274.3(GLMN):c.1473+244T>C	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1324482	NM_053274.3(GLMN):c.1473+2T>A	GLMN	Single nucleotide variant (splice donor variant)	Glomuvenous malformation	GLikely pathogenic
Select item 987245	NM_053274.3(GLMN):c.1470_1473del (p.Asn490fs)	GLMN (N476fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2617680	NM_053274.3(GLMN):c.1452A>T (p.Lys484Asn)	GLMN (K470N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 298129	NM_053274.3(GLMN):c.1410-19AT[2]	GLMN	Microsatellite (intron variant)	Glomuvenous malformation	GLikely benign
Select item 1810259	NM_053274.3(GLMN):c.1406_1409del (p.Asp469fs)	GLMN (D455fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1323020	NM_053274.3(GLMN):c.1376del (p.Gly459fs)	GLMN (G445fs +1 more)	Deletion (frameshift variant +1 more)	Glomuvenous malformation	GPathogenic
Select item 667407	NM_053274.3(GLMN):c.1355del (p.Leu452fs)	GLMN (L452fs +1 more)	Deletion (frameshift variant +1 more)	Glomuvenous malformation +1 more	GPathogenic/Likely pathogenic
Select item 660874	NM_053274.3(GLMN):c.1323dup (p.Thr442fs)	GLMN (T428fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1691368	NM_053274.3(GLMN):c.1319G>A (p.Trp440Ter)	GLMN (W426* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 876496	NM_053274.3(GLMN):c.1318T>C (p.Trp440Arg)	GLMN (W426R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 876497	NM_053274.3(GLMN):c.1306C>T (p.Arg436Cys)	GLMN (R422C +1 more)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation	GBenign
Select item 1259722	NM_053274.3(GLMN):c.1300-157G>A	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178565	NM_053274.3(GLMN):c.1299+136del	GLMN	Deletion (intron variant)	not provided	GBenign
Select item 873603	NM_053274.3(GLMN):c.1224G>A (p.Leu408=)	GLMN	Single nucleotide variant (synonymous variant)	Glomuvenous malformation	GUncertain significance
Select item 298130	NM_053274.3(GLMN):c.1215-9G>T	GLMN	Single nucleotide variant (intron variant)	Glomuvenous malformation	GLikely benign
Select item 7804	NM_053274.3(GLMN):c.736-2886_1214+254delinsGG	GLMN, LOC129388560	Indel (splice acceptor variant +1 more)	Glomuvenous malformation	GPathogenic
Select item 420033	NM_053274.3(GLMN):c.1208T>G (p.Leu403Ter)	GLMN (L403* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1049478	NM_053274.3(GLMN):c.1204A>G (p.Thr402Ala)	GLMN (T388A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 7807	NM_053274.3(GLMN):c.1179_1181del (p.Asn393del)	GLMN (N393del +1 more)	Deletion (inframe_deletion +1 more)	not specified +1 more	GPathogenic
Select item 298131	NM_053274.3(GLMN):c.1159A>G (p.Met387Val)	GLMN (M387V +1 more)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation +1 more	GBenign
Select item 873604	NM_053274.3(GLMN):c.1154T>C (p.Leu385Ser)	GLMN (L371S +1 more)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation	GUncertain significance
Select item 1691366	NM_053274.3(GLMN):c.1150_1151del (p.Ser384fs)	GLMN (S370fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 632117	NM_053274.3(GLMN):c.1145_1148dup (p.Ser384fs)	GLMN (S370fs +1 more)	Duplication (frameshift variant +1 more)	Glomuvenous malformation	GUncertain significance
Select item 1334667	NM_053274.3(GLMN):c.1141-1G>A	GLMN	Single nucleotide variant (splice acceptor variant)	Glomuvenous malformation	GLikely pathogenic
Select item 811779	NM_053274.3(GLMN):c.1099-4C>T	GLMN	Single nucleotide variant (intron variant)	Glomuvenous malformation	GBenign
Select item 1260337	NM_053274.3(GLMN):c.1098+209del	GLMN	Deletion (intron variant)	not provided	GBenign
Select item 873605	NM_053274.3(GLMN):c.1093C>T (p.Pro365Ser)	GLMN (P365S)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation	GUncertain significance
Select item 801500	NM_053274.3(GLMN):c.1083del (p.Thr363fs)	GLMN (T363fs)	Deletion (frameshift variant +1 more)	Glomuvenous malformation	GLikely pathogenic
Select item 1073647	NM_053274.3(GLMN):c.1078_1079del (p.Ser360fs)	GLMN (S360fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1691367	NM_053274.3(GLMN):c.1073del (p.Ile358fs)	GLMN (I358fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 298132	NM_053274.3(GLMN):c.1057T>C (p.Tyr353His)	GLMN (Y353H)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation	GBenign
Select item 298133	NM_053274.3(GLMN):c.1022A>G (p.Asn341Ser)	GLMN (N341S)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation	GBenign
Select item 2621710	NM_053274.3(GLMN):c.1021A>T (p.Asn341Tyr)	GLMN (N341Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 298134	NM_053274.3(GLMN):c.1007T>C (p.Leu336Ser)	GLMN (L336S)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation +1 more	GBenign
Select item 7805	NM_053274.3(GLMN):c.980_984del	GLMN	Microsatellite (splice acceptor variant)	Glomuvenous malformation	GPathogenic
Select item 298135	NM_053274.3(GLMN):c.978-4T>C	GLMN	Single nucleotide variant (intron variant)	Glomuvenous malformation	GLikely benign
Select item 1294772	NM_053274.3(GLMN):c.978-178C>T	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231890	NM_053274.3(GLMN):c.978-274T>G	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228697	NM_053274.3(GLMN):c.977+268C>T	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 298136	NM_053274.3(GLMN):c.977+9G>A	GLMN	Single nucleotide variant (intron variant)	Glomuvenous malformation	GBenign
Select item 298137	NM_053274.3(GLMN):c.977+7T>A	GLMN	Single nucleotide variant (intron variant)	Glomuvenous malformation +1 more	GBenign
Select item 1690424	NM_053274.3(GLMN):c.971dup (p.Leu324fs)	GLMN (L324fs)	Duplication (frameshift variant +1 more)	See cases	GLikely pathogenic
Select item 1251450	NM_053274.3(GLMN):c.924-26A>G	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 298138	NM_053274.3(GLMN):c.899T>C (p.Ile300Thr)	GLMN (I300T)	Single nucleotide variant (missense variant +1 more)	GLMN-related condition +1 more	GBenign/Likely benign
Select item 874606	NM_053274.3(GLMN):c.856A>G (p.Met286Val)	GLMN (M286V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 930408	NM_053274.3(GLMN):c.844_847del (p.Leu282fs)	GLMN (L282fs)	Deletion (frameshift variant +1 more)	Glomuvenous malformation +2 more	GPathogenic/Likely pathogenic
Select item 1069620	NM_053274.3(GLMN):c.841C>T (p.Gln281Ter)	GLMN (Q281*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 298139	NM_053274.3(GLMN):c.765C>T (p.Phe255=)	GLMN	Single nucleotide variant (synonymous variant +1 more)	Glomuvenous malformation	GBenign
Select item 298140	NM_053274.3(GLMN):c.761C>G (p.Pro254Arg)	GLMN (P254R)	Single nucleotide variant (missense variant +1 more)	Blue rubber bleb nevus +1 more	GConflicting classifications of pathogenicity
Select item 2222246	NM_053274.3(GLMN):c.751A>G (p.Ile251Val)	GLMN (I251V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 618144	NM_053274.3(GLMN):c.743dup (p.Leu248fs)	GLMN (L248fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 915841	NM_053274.3(GLMN):c.743T>A (p.Leu248Ter)	GLMN (L248*)	Single nucleotide variant (nonsense +1 more)	Glomuvenous malformation	GLikely pathogenic
Select item 1294784	NM_053274.3(GLMN):c.633-159A>G	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233527	NM_053274.3(GLMN):c.632+189C>T	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1066531	NM_053274.3(GLMN):c.632+1G>A	GLMN	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1330951	NM_053274.3(GLMN):c.586_589del (p.Glu196fs)	GLMN (E196fs)	Deletion (frameshift variant +1 more)	Glomuvenous malformation	GPathogenic
Select item 298141	NM_053274.3(GLMN):c.581A>G (p.Asn194Ser)	GLMN (N194S)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation	GBenign
Select item 2561250	NM_053274.3(GLMN):c.571G>T (p.Val191Phe)	GLMN (V191F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 667406	NM_053274.3(GLMN):c.554_558delinsG (p.Lys185fs)	GLMN (K185fs)	Indel (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 298142	NM_053274.3(GLMN):c.542T>C (p.Ile181Thr)	GLMN (I181T)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation	GBenign
Select item 298143	NM_053274.3(GLMN):c.526T>C (p.Cys176Arg)	GLMN (C176R)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation	GUncertain significance
Select item 2454504	NM_053274.3(GLMN):c.521G>A (p.Cys174Tyr)	GLMN (C174Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 298144	NM_053274.3(GLMN):c.519T>C (p.Leu173=)	GLMN	Single nucleotide variant (synonymous variant +1 more)	Glomuvenous malformation	GBenign
Select item 1709641	NM_053274.3(GLMN):c.465_468del (p.Leu156fs)	GLMN (L156fs)	Deletion (frameshift variant +1 more)	Glomuvenous malformation	GLikely pathogenic
Select item 2337031	NM_053274.3(GLMN):c.461T>C (p.Leu154Pro)	GLMN (L154P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 298145	NM_053274.3(GLMN):c.437C>T (p.Ala146Val)	GLMN (A146V)	Single nucleotide variant (missense variant +1 more)	Glomuvenous malformation	GUncertain significance
Select item 298146	NM_053274.3(GLMN):c.436G>A (p.Ala146Thr)	GLMN (A146T)	Single nucleotide variant (missense variant +1 more)	GLMN-related condition +2 more	GBenign
Select item 2401168	NM_053274.3(GLMN):c.418G>C (p.Ala140Pro)	GLMN (A140P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2672116	NM_053274.3(GLMN):c.395-1G>C	GLMN	Single nucleotide variant (splice acceptor variant)	Glomuvenous malformation	GPathogenic
Select item 559861	NM_053274.3(GLMN):c.394+1G>A	GLMN	Single nucleotide variant (splice donor variant)	Glomuvenous malformation	GLikely pathogenic
Select item 1691364	NM_053274.3(GLMN):c.336del (p.Glu112fs)	GLMN (E112fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1281557	NM_053274.3(GLMN):c.286-80C>T	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287840	NM_053274.3(GLMN):c.285+182A>G	GLMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 298147	NM_053274.3(GLMN):c.271G>A (p.Asp91Asn)	GLMN (D91N)	Single nucleotide variant (missense variant +1 more)	GLMN-related condition +1 more	GBenign
Select item 2268957	NM_053274.3(GLMN):c.172A>C (p.Ile58Leu)	GLMN (I58L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1241512	NM_053274.3(GLMN):c.165+271dup	GLMN	Duplication (intron variant)	not provided	GBenign
Select item 298148	NM_053274.3(GLMN):c.165+10A>G	GLMN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 7806	NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)	GLMN	Deletion (nonsense +1 more)	GLMN-related condition +2 more	GPathogenic
Select item 2526595	NM_053274.3(GLMN):c.155A>C (p.Glu52Ala)	GLMN (E52A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440517	NM_053274.3(GLMN):c.148C>T (p.Gln50Ter)	GLMN (Q50*)	Single nucleotide variant (nonsense +1 more)	Glomuvenous malformation	GLikely pathogenic

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