C4551954[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 352306	NM_000171.4(GLRA1):c.1224C>T (p.Phe408=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia +2 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 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 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 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 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 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 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 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 352311	NM_000171.4(GLRA1):c.993C>T (p.Ala331=)	GLRA1	Single nucleotide variant (synonymous variant)	not provided +2 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 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 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 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 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 906751	NM_000171.4(GLRA1):c.585C>T (p.Ile195=)	GLRA1	Single nucleotide variant (synonymous variant)	Hyperekplexia 1	GLikely 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 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 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 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 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 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 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 352319	NM_000171.4(GLRA1):c.253-14T>C	GLRA1	Single nucleotide variant (intron variant)	Hyperekplexia 1	GUncertain significance
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 907753	NM_000171.4(GLRA1):c.185-9G>A	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia +1 more	GLikely benign
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 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 632458	NM_000171.4(GLRA1):c.56+2T>C	GLRA1	Single nucleotide variant (splice donor variant)	Hyperekplexia 1	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 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 352325	NM_000171.4(GLRA1):c.-80G>A	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1	GUncertain significance
Select item 904424	NM_000171.4(GLRA1):c.-81C>G	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1	GUncertain significance
Select item 352326	NM_000171.4(GLRA1):c.-130G>A	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1	GUncertain significance
Select item 352327	NM_000171.4(GLRA1):c.-164C>T	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1	GLikely benign
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 352329	NM_000171.4(GLRA1):c.-271G>C	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia 1	GUncertain significance

ClinVar

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Items: 39