ClinVar for MedGen (Select 1647581) - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689137	NM_000171.4(GLRA1):c.185-3C>T	GLRA1	Single nucleotide variant (intron variant)	Hyperekplexia 1	GUncertain significance
Select item 2500904	NM_000171.4(GLRA1):c.921dup (p.Val308fs)	GLRA1 (V225fs +1 more)	Duplication (frameshift variant)	Hyperekplexia 1	GLikely pathogenic
Select item 2440523	NM_000171.4(GLRA1):c.147del (p.Ser50fs)	GLRA1 (S50fs)	Deletion (frameshift variant +1 more)	Hyperekplexia 1	GLikely pathogenic
Select item 2432167	NM_000171.4(GLRA1):c.14A>G (p.Asn5Ser)	GLRA1 (N5S)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 1	GUncertain significance
Select item 2198389	NM_000171.4(GLRA1):c.1226T>A (p.Ile409Asn)	GLRA1 (I417N +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GUncertain significance
Select item 1687287	NM_000171.4(GLRA1):c.191C>T (p.Pro64Leu)	GLRA1 (P64L)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperekplexia +1 more	GUncertain significance
Select item 1324483	NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp)	GLRA1 (R163W +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GPathogenic/Likely pathogenic
Select item 1323021	NM_000171.4(GLRA1):c.675C>A (p.Tyr225Ter)	GLRA1 (Y142* +1 more)	Single nucleotide variant (nonsense)	Hyperekplexia 1	GPathogenic
Select item 1199242	NM_000171.4(GLRA1):c.346T>C (p.Ser116Pro)	GLRA1 (S116P +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GUncertain significance
Select item 1028686	NM_020806.5(GPHN):c.175G>A (p.Val59Ile)	GPHN (V59I)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GUncertain significance
Select item 969774	NM_000171.4(GLRA1):c.698-2del	GLRA1	Deletion (splice acceptor variant)	Hyperekplexia 1	GLikely pathogenic
Select item 956517	NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter)	GLRA1 (R8*)	Single nucleotide variant (nonsense +1 more)	Hereditary hyperekplexia +2 more	GConflicting classifications of pathogenicity
Select item 948005	NM_000171.4(GLRA1):c.569C>T (p.Thr190Met)	GLRA1 (T107M +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +2 more	GPathogenic/Likely pathogenic
Select item 948004	NM_000171.4(GLRA1):c.184+2T>C	GLRA1	Single nucleotide variant (intron variant +1 more)	Hyperekplexia 1	GLikely pathogenic
Select item 930318	NM_000171.4(GLRA1):c.106A>G (p.Met36Val)	GLRA1 (M36V)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 1	GUncertain significance
Select item 907753	NM_000171.4(GLRA1):c.185-9G>A	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia +1 more	GLikely benign
Select item 907752	NM_000171.4(GLRA1):c.324C>T (p.Asp108=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia +1 more	GBenign/Likely benign
Select item 906752	NM_000171.4(GLRA1):c.477-5C>T	GLRA1	Single nucleotide variant (intron variant)	Hyperekplexia 1 +2 more	GConflicting classifications of pathogenicity
Select item 906751	NM_000171.4(GLRA1):c.585C>T (p.Ile195=)	GLRA1	Single nucleotide variant (synonymous variant)	Hyperekplexia 1	GLikely benign
Select item 904424	NM_000171.4(GLRA1):c.-81C>G	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1	GUncertain significance
Select item 854282	NM_000171.4(GLRA1):c.696A>G (p.Thr232=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia +2 more	GConflicting classifications of pathogenicity
Select item 852093	NM_000171.4(GLRA1):c.560-1G>C	GLRA1	Single nucleotide variant (splice acceptor variant)	Hyperekplexia 1	GLikely pathogenic
Select item 850027	NM_000171.4(GLRA1):c.49T>C (p.Phe17Leu)	GLRA1 (F17L)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 1 +1 more	GUncertain significance
Select item 842196	NM_000171.4(GLRA1):c.1181C>G (p.Pro394Arg)	GLRA1 (P402R +2 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +1 more	GUncertain significance
Select item 807425	NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr)	GLRA1 (C69Y)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 1	GLikely pathogenic
Select item 807424	NM_000171.4(GLRA1):c.559+1G>A	GLRA1	Single nucleotide variant (splice donor variant)	Hyperekplexia 1	GLikely pathogenic
Select item 707211	NM_000171.4(GLRA1):c.1032A>G (p.Arg344=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia +1 more	GBenign/Likely benign
Select item 666970	NM_000171.4(GLRA1):c.403del (p.His135fs)	GLRA1 (H52fs +1 more)	Deletion (frameshift variant)	Hyperekplexia 1	GLikely pathogenic
Select item 642040	NC_000005.9:g.(?_151271852)_(151304130_?)dup	GLRA1, LOC123575602	Duplication	Hyperekplexia 1 +1 more	GUncertain significance
Select item 632458	NM_000171.4(GLRA1):c.56+2T>C	GLRA1	Single nucleotide variant (splice donor variant)	Hyperekplexia 1	GUncertain significance
Select item 583758	NC_000005.10:g.(?_151924474)_(151924569_?)del	GLRA1	Deletion	Hyperekplexia 1 +1 more	GPathogenic
Select item 582544	NM_000171.4(GLRA1):c.449G>C (p.Arg150Pro)	GLRA1 (R150P +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GUncertain significance
Select item 578563	NM_020806.5(GPHN):c.826C>T (p.Arg276Trp)	GPHN (R276W)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GUncertain significance
Select item 578276	NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile)	GLRA1 (M432I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 566679	NM_020806.5(GPHN):c.127G>A (p.Val43Ile)	GPHN (V43I)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GUncertain significance
Select item 545477	NM_000171.4(GLRA1):c.1246G>A (p.Asp416Asn)	GLRA1 (D424N +2 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GLikely pathogenic
Select item 532839	NM_000171.4(GLRA1):c.1295T>C (p.Met432Thr)	GLRA1 (M432T +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +2 more	GUncertain significance
Select item 532834	NM_000171.4(GLRA1):c.1325G>A (p.Arg442His)	GLRA1 (R442H +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +2 more	GUncertain significance
Select item 522679	NM_000171.4(GLRA1):c.252+2T>C	GLRA1	Single nucleotide variant (splice donor variant)	Hyperekplexia 1	GPathogenic
Select item 487340	NM_000171.4(GLRA1):c.477-1G>A	GLRA1	Single nucleotide variant (splice acceptor variant)	Hyperekplexia 1	GPathogenic
Select item 466213	NM_020806.5(GPHN):c.800A>G (p.Asn267Ser)	GPHN (N267S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 466203	NM_020806.5(GPHN):c.1797T>C (p.Asp599=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +2 more	GBenign/Likely benign
Select item 464192	NM_000171.4(GLRA1):c.610G>A (p.Val204Met)	GLRA1 (V204M +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GUncertain significance
Select item 464189	NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser)	GLRA1 (F17S)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 1 +2 more	GConflicting classifications of pathogenicity
Select item 464183	NM_000171.4(GLRA1):c.1010G>A (p.Arg337Gln)	GLRA1 (R337Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 424702	NM_000171.3(GLRA1):c.[1259G>A];[839G>A]			Hyperekplexia 1	GPathogenic
Select item 424701	NM_000171.3(GLRA1):c.[298delC];[523A>G]			Hyperekplexia 1	GPathogenic
Select item 424700	NM_000171.3(GLRA1):c.[1030C>T];[288G>T]			Hyperekplexia 1	GPathogenic
Select item 352329	NM_000171.4(GLRA1):c.-271G>C	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1	GUncertain significance
Select item 352328	NM_000171.4(GLRA1):c.-196C>T	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1 +1 more	GBenign
Select item 352327	NM_000171.4(GLRA1):c.-164C>T	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1	GLikely benign
Select item 352326	NM_000171.4(GLRA1):c.-130G>A	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1	GUncertain significance
Select item 352325	NM_000171.4(GLRA1):c.-80G>A	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1	GUncertain significance
Select item 352323	NM_000171.4(GLRA1):c.23G>C (p.Arg8Pro)	GLRA1 (R8P)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperekplexia +1 more	GBenign/Likely benign
Select item 352322	NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr)	GLRA1 (A32T)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperekplexia +1 more	GConflicting classifications of pathogenicity
Select item 352321	NM_000171.4(GLRA1):c.117G>C (p.Ser39=)	GLRA1	Single nucleotide variant (synonymous variant +1 more)	Hyperekplexia 1 +2 more	GBenign/Likely benign
Select item 352320	NM_000171.4(GLRA1):c.198C>T (p.Asn66=)	GLRA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperekplexia +1 more	GLikely benign
Select item 352319	NM_000171.4(GLRA1):c.253-14T>C	GLRA1	Single nucleotide variant (intron variant)	Hyperekplexia 1	GUncertain significance
Select item 352318	NM_000171.4(GLRA1):c.390C>T (p.Asn130=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia +2 more	GBenign/Likely benign
Select item 352317	NM_000171.4(GLRA1):c.449G>A (p.Arg150Gln)	GLRA1 (R150Q +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +2 more	GConflicting classifications of pathogenicity
Select item 352316	NM_000171.4(GLRA1):c.522C>T (p.Pro174=)	GLRA1	Single nucleotide variant (synonymous variant)	Hyperekplexia 1 +1 more	GBenign/Likely benign
Select item 352315	NM_000171.4(GLRA1):c.559+8T>G	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia +3 more	GBenign
Select item 352314	NM_000171.4(GLRA1):c.697+9A>C	GLRA1	Single nucleotide variant (intron variant)	Hyperekplexia 1 +1 more	GConflicting classifications of pathogenicity
Select item 352313	NM_000171.4(GLRA1):c.722G>A (p.Arg241Gln)	GLRA1 (R241Q +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +1 more	GBenign
Select item 352312	NM_000171.4(GLRA1):c.723G>C (p.Arg241=)	GLRA1	Single nucleotide variant (synonymous variant)	Hyperekplexia 1 +2 more	GBenign
Select item 352311	NM_000171.4(GLRA1):c.993C>T (p.Ala331=)	GLRA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 352310	NM_000171.4(GLRA1):c.1041G>A (p.Arg347=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia +2 more	GBenign/Likely benign
Select item 352309	NM_000171.4(GLRA1):c.1046G>A (p.Arg349Gln)	GLRA1 (R349Q +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +3 more	GBenign/Likely benign
Select item 352308	NM_000171.4(GLRA1):c.1181C>T (p.Pro394Leu)	GLRA1 (P394L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 352307	NM_000171.4(GLRA1):c.1214G>A (p.Arg405Gln)	GLRA1 (R405Q +2 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +1 more	GBenign/Likely benign
Select item 352306	NM_000171.4(GLRA1):c.1224C>T (p.Phe408=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia +2 more	GBenign
Select item 352305	NM_000171.4(GLRA1):c.1333G>T (p.Asp445Tyr)	GLRA1 (D445Y +2 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GUncertain significance
Select item 352304	NM_000171.4(GLRA1):c.1341C>T (p.His447=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia +1 more	GBenign/Likely benign
Select item 225379	NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp)	GLRA1 (R93W +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GLikely pathogenic
Select item 156334	NM_000171.4(GLRA1):c.593G>C (p.Trp198Ser)	GLRA1 (W198S +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GUncertain significance
Select item 41004	NM_000171.3(GLRA1):c.(?_-287)_697+?del	GLRA1, LOC123575602	Deletion	Hyperekplexia 1	GPathogenic
Select item 38335	NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer)	GLRA1	Deletion (nonsense)	Hereditary hyperekplexia	GPathogenic
Select item 38334	NM_000171.4(GLRA1):c.920A>C (p.Tyr307Ser)	GLRA1 (Y307S +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GPathogenic
Select item 38333	NM_000171.4(GLRA1):c.892T>A (p.Ser298Thr)	GLRA1 (S298T +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GPathogenic
Select item 38330	NM_000171.4(GLRA1):c.801G>C (p.Trp267Cys)	GLRA1 (W267C +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GPathogenic
Select item 38329	NM_000171.4(GLRA1):c.737G>A (p.Arg246Gln)	GLRA1 (R246Q +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GPathogenic
Select item 38328	NM_000171.4(GLRA1):c.299G>A (p.Arg100His)	GLRA1 (R100H +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GLikely pathogenic
Select item 38327	NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)	GLRA1 (G378S +2 more)	Single nucleotide variant (missense variant)	GLRA1-related condition +4 more	GBenign/Likely benign
Select item 16074	NM_000171.4(GLRA1):c.884G>A (p.Ser295Asn)	GLRA1 (S295N +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GPathogenic
Select item 16073	NM_000171.4(GLRA1):c.971C>A (p.Ser324Ter)	GLRA1 (S324* +1 more)	Single nucleotide variant (nonsense)	Hereditary hyperekplexia +1 more	GPathogenic
Select item 16072	NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del	GLRA1	Deletion	Hyperekplexia 1	GPathogenic
Select item 16071	NM_000171.4(GLRA1):c.777C>G (p.Ser259Arg)	GLRA1 (S259R +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GPathogenic
Select item 16070	NM_000171.4(GLRA1):c.862G>A (p.Val288Met)	GLRA1 (V288M +1 more)	Single nucleotide variant (missense variant)	GLRA1-related condition	GUncertain significance
Select item 16069	NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter)	GLRA1 (Y230* +1 more)	Single nucleotide variant (nonsense)	Hyperekplexia 1	GPathogenic
Select item 16068	NM_000171.4(GLRA1):c.523A>G (p.Met175Val)	GLRA1 (M175V +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GConflicting classifications of pathogenicity
Select item 16067	NM_000171.4(GLRA1):c.298del (p.Arg100fs)	GLRA1 (R100fs +1 more)	Deletion (frameshift variant)	Hereditary hyperekplexia	GPathogenic
Select item 16066	NM_000171.4(GLRA1):c.832C>A (p.Pro278Thr)	GLRA1 (P278T +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GPathogenic
Select item 16065	NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu)	GLRA1 (K304E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 16064	NM_000171.4(GLRA1):c.882G>C (p.Gln294His)	GLRA1 (Q294H +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GPathogenic
Select item 16063	NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys)	GLRA1 (Y307C +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GPathogenic
Select item 16062	NM_000171.4(GLRA1):c.815T>A (p.Ile272Asn)	GLRA1 (I272N +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GPathogenic
Select item 16061	NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln)	GLRA1 (R299Q +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +3 more	GPathogenic
Select item 16060	NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu)	GLRA1 (R299L +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GLikely pathogenic
Select item 5973	NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr)	GPHN (N10Y)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +3 more	GUncertain significance

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Items: 99