GLRB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 154640	GRCh38/hg38 4q32.1(chr4:156633209-157164720)x1	GLRB, LOC112939921 +3 more	Copy number loss	See cases	GUncertain significance
Select item 901218	NM_000824.4(GLRB):c.-212G>A	GLRB	Single nucleotide variant	Hyperekplexia 2	GBenign
Select item 347910	NM_000824.4(GLRB):c.-182C>T	GLRB	Single nucleotide variant	Hyperekplexia 2	GUncertain significance
Select item 347909	NM_000824.4(GLRB):c.-182C>G	GLRB	Single nucleotide variant	Hyperekplexia 2	GBenign
Select item 347911	NM_000824.5(GLRB):c.-102T>C	GLRB	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 2	GBenign
Select item 901219	NM_000824.5(GLRB):c.-89C>T	GLRB	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 2	GUncertain significance
Select item 347912	NM_000824.5(GLRB):c.-69C>T	GLRB	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 2	GBenign
Select item 901766	NM_000824.5(GLRB):c.-29-8T>C	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GBenign
Select item 347913	NM_000824.5(GLRB):c.-26G>T	GLRB	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 347914	NM_000824.5(GLRB):c.-16A>T	GLRB	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 3022683	NM_000824.5(GLRB):c.6G>A (p.Lys2=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1355526	NM_000824.5(GLRB):c.7T>G (p.Phe3Val)	GLRB (F3V)	Single nucleotide variant (missense variant)	Hyperekplexia 2 +1 more	GUncertain significance
Select item 2163953	NM_000824.5(GLRB):c.8T>A (p.Phe3Tyr)	GLRB (F3Y)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 2978703	NM_000824.5(GLRB):c.15G>A (p.Leu5=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1999893	NM_000824.5(GLRB):c.22G>C (p.Ala8Pro)	GLRB (A8P)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 653331	NM_000824.5(GLRB):c.24del (p.Phe9_Leu10insTer)	GLRB	Deletion (frameshift variant)	Hyperekplexia 2	GPathogenic
Select item 1023886	NM_000824.5(GLRB):c.34T>G (p.Leu12Val)	GLRB (L12V)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 901767	NM_000824.5(GLRB):c.37A>G (p.Ile13Val)	GLRB (I13V)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 1625923	NM_000824.5(GLRB):c.45G>A (p.Leu15=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1946639	NM_000824.5(GLRB):c.49G>T (p.Val17Leu)	GLRB (V17L)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 1480671	NM_000824.5(GLRB):c.49G>A (p.Val17Met)	GLRB (V17M)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 1356579	NM_000824.5(GLRB):c.52G>A (p.Glu18Lys)	GLRB (E18K)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 2763885	NM_000824.5(GLRB):c.54A>G (p.Glu18=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1427249	NM_000824.5(GLRB):c.59C>T (p.Ala20Val)	GLRB (A20V)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 1958625	NM_000824.5(GLRB):c.60C>T (p.Ala20=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 2729998	NM_000824.5(GLRB):c.66T>C (p.Ser22=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 2754032	NM_000824.5(GLRB):c.84del (p.Lys31fs)	GLRB (K31fs)	Deletion (frameshift variant)	Hyperekplexia 2	GPathogenic
Select item 901768	NM_000824.5(GLRB):c.92A>G (p.Lys31Arg)	GLRB (K31R)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GBenign/Likely benign
Select item 1496306	NM_000824.5(GLRB):c.95G>A (p.Gly32Glu)	GLRB (G32E)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 3009117	NM_000824.5(GLRB):c.96G>A (p.Gly32=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1348265	NM_000824.5(GLRB):c.97A>G (p.Lys33Glu)	GLRB (K33E)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 1099323	NM_000824.5(GLRB):c.120A>G (p.Pro40=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1408105	NM_000824.5(GLRB):c.121T>C (p.Ser41Pro)	GLRB (S41P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 802099	NM_000824.5(GLRB):c.122+1G>A	GLRB	Single nucleotide variant (splice donor variant)	Hyperekplexia 2	GPathogenic
Select item 1350322	NM_000824.5(GLRB):c.122+3A>G	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GUncertain significance
Select item 347915	NM_000824.5(GLRB):c.122+4T>A	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2 +1 more	GBenign
Select item 1990600	NM_000824.5(GLRB):c.122+16C>G	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GLikely benign
Select item 1242317	NM_000824.5(GLRB):c.122+230T>C	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242694	NM_000824.5(GLRB):c.123-118dup	GLRB	Duplication (intron variant)	not provided	GBenign
Select item 1248230	NM_000824.5(GLRB):c.123-117G>A	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1630605	NM_000824.5(GLRB):c.123-16_123-14del	GLRB	Deletion (intron variant)	Hyperekplexia 2	GLikely benign
Select item 1511618	NM_000824.5(GLRB):c.123-14TC[3]	GLRB	Microsatellite (intron variant)	Hyperekplexia 2	GLikely benign
Select item 1152957	NM_000824.5(GLRB):c.123-7C>T	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GLikely benign
Select item 574419	NM_000824.5(GLRB):c.123-2A>G	GLRB	Single nucleotide variant (splice acceptor variant)	Hyperekplexia 2	GPathogenic
Select item 1507331	NM_000824.5(GLRB):c.127C>G (p.Gln43Glu)	GLRB (Q43E)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 1113934	NM_000824.5(GLRB):c.132A>C (p.Ser44=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1970414	NM_000824.5(GLRB):c.135A>G (p.Ala45=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1557089	NM_000824.5(GLRB):c.144T>A (p.Leu48=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1383149	NM_000824.5(GLRB):c.149G>T (p.Arg50Leu)	GLRB (R50L)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 901769	NM_000824.5(GLRB):c.149G>A (p.Arg50Gln)	GLRB (R50Q)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 2058197	NM_000824.5(GLRB):c.186_197del (p.Arg62_Val65del)	GLRB	Deletion (inframe_deletion)	Hyperekplexia 2	GUncertain significance
Select item 651260	NM_000824.5(GLRB):c.185G>A (p.Arg62Lys)	GLRB (R62K)	Single nucleotide variant (missense variant)	Hyperekplexia 2 +1 more	GConflicting classifications of pathogenicity
Select item 2741658	NM_000824.5(GLRB):c.190T>C (p.Leu64=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1121991	NM_000824.5(GLRB):c.205C>T (p.Pro69Ser)	GLRB (P69S)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GLikely benign
Select item 1643089	NM_000824.5(GLRB):c.207C>G (p.Pro69=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 902675	NM_000824.5(GLRB):c.210G>A (p.Arg70=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GConflicting classifications of pathogenicity
Select item 1506599	NM_000824.5(GLRB):c.212T>G (p.Ile71Arg)	GLRB (I71R)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 2111274	NM_000824.5(GLRB):c.215G>A (p.Arg72Lys)	GLRB (R72K)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 726330	NM_000824.5(GLRB):c.222C>T (p.Asn74=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1008174	NM_000824.5(GLRB):c.226A>C (p.Lys76Gln)	GLRB (K76Q)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 1961091	NM_000824.5(GLRB):c.228A>G (p.Lys76=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GUncertain significance
Select item 2102374	NM_000824.5(GLRB):c.229G>C (p.Gly77Arg)	GLRB (G77R)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 347916	NM_000824.5(GLRB):c.229+8T>G	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GBenign/Likely benign
Select item 2879223	NM_000824.5(GLRB):c.229+12C>T	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GLikely benign
Select item 1574804	NM_000824.5(GLRB):c.229+15T>C	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GLikely benign
Select item 1248544	NM_000824.5(GLRB):c.229+82G>A	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230558	NM_000824.5(GLRB):c.229+138T>C	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236550	NM_000824.5(GLRB):c.229+154A>G	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241181	NM_000824.5(GLRB):c.230-199del	GLRB	Deletion (intron variant)	not provided	GBenign
Select item 1242479	NM_000824.5(GLRB):c.230-198C>T	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297932	NM_000824.5(GLRB):c.230-165C>T	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2859063	NM_000824.5(GLRB):c.230-20T>A	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GLikely benign
Select item 2036156	NM_000824.5(GLRB):c.230-17T>A	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GLikely benign
Select item 2995363	NM_000824.5(GLRB):c.230-14A>C	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GLikely benign
Select item 1940518	NM_000824.5(GLRB):c.230-14A>T	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GLikely benign
Select item 2155804	NM_000824.5(GLRB):c.230-12T>A	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GLikely benign
Select item 2146379	NM_000824.5(GLRB):c.242A>T (p.Asp81Val)	GLRB (D81V)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 643650	NM_000824.5(GLRB):c.242A>G (p.Asp81Gly)	GLRB (D81G)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 1418617	NM_000824.5(GLRB):c.250G>A (p.Val84Ile)	GLRB (V84I)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 2872687	NM_000824.5(GLRB):c.255C>T (p.Asn85=)	GLRB	Single nucleotide variant (synonymous variant)	Hyperekplexia 2	GLikely benign
Select item 1354939	NM_000824.5(GLRB):c.272T>C (p.Phe91Ser)	GLRB (F91S)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 1717245	NM_000824.5(GLRB):c.281_282delinsGC (p.Ile94Ser)	GLRB (I94S)	Indel (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 2111774	NM_000824.5(GLRB):c.284A>G (p.Gln95Arg)	GLRB (Q95R)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 2071970	NM_000824.5(GLRB):c.290C>T (p.Thr97Ile)	GLRB (T97I)	Single nucleotide variant (missense variant)	Hyperekplexia 2	GUncertain significance
Select item 1067051	NM_000824.5(GLRB):c.297+1G>T	GLRB	Single nucleotide variant (splice donor variant)	Hyperekplexia 2	GLikely pathogenic
Select item 1637297	NM_000824.5(GLRB):c.297+7T>C	GLRB	Single nucleotide variant (intron variant)	Hyperekplexia 2	GLikely benign
Select item 347917	NM_000824.5(GLRB):c.297+10C>T	GLRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1231846	NM_000824.5(GLRB):c.297+71T>C	GLRB	Single nucleotide variant (intron variant)	not provided	GBenign

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