C1837552[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 881961	NM_014365.2(HSPB8):c.-522C>G	HSPB8	Single nucleotide variant	Neuronopathy, distal hereditary motor, type 2A +1 more	GUncertain significance
Select item 307409	NM_014365.2(HSPB8):c.-489G>A	HSPB8	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 307410	NM_014365.2(HSPB8):c.-480C>G	HSPB8	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 307411	NM_014365.2(HSPB8):c.-457A>G	HSPB8	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2L +1 more	GBenign
Select item 883131	NM_014365.2(HSPB8):c.-419A>T	HSPB8	Single nucleotide variant	Neuronopathy, distal hereditary motor, type 2A +1 more	GUncertain significance
Select item 307412	NM_014365.3(HSPB8):c.-314T>C	HSPB8	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 307413	NM_014365.3(HSPB8):c.-201G>T	HSPB8	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 307414	NM_014365.3(HSPB8):c.-193T>C	HSPB8	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +2 more	GBenign
Select item 307415	NM_014365.3(HSPB8):c.-172G>C	HSPB8	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 567484	NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)	HSPB8 (Q5R)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 307416	NM_014365.3(HSPB8):c.48G>A (p.Leu16=)	HSPB8	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2L +2 more	GBenign/Likely benign
Select item 880624	NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)	HSPB8 (R55C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 380971	NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)	HSPB8 (R78M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 307417	NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg)	HSPB8 (P89R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 260402	NM_014365.3(HSPB8):c.402T>C (p.Ile134=)	HSPB8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 464510	NM_014365.3(HSPB8):c.432-10T>A	HSPB8	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 2A +2 more	GConflicting classifications of pathogenicity
Select item 450945	NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)	HSPB8 (E167K)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2A +3 more	GBenign/Likely benign
Select item 307418	NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln)	HSPB8 (E179Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 307419	NM_014365.3(HSPB8):c.552C>T (p.Asn184=)	HSPB8	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 260403	NM_014365.3(HSPB8):c.582C>T (p.Thr194=)	HSPB8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 307420	NM_014365.3(HSPB8):c.*67T>G	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 883984	NM_014365.3(HSPB8):c.*123G>A	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 883985	NM_014365.3(HSPB8):c.*330A>T	HSPB8	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2A +1 more	GUncertain significance
Select item 307421	NM_014365.3(HSPB8):c.*440C>G	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GBenign
Select item 307422	NM_014365.3(HSPB8):c.*504T>C	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 307423	NM_014365.3(HSPB8):c.*581G>A	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GBenign
Select item 307425	NM_014365.3(HSPB8):c.*616C>T	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GBenign
Select item 307424	NM_014365.3(HSPB8):c.*616C>G	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GBenign
Select item 307426	NM_014365.3(HSPB8):c.*644A>G	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +2 more	GBenign
Select item 307427	NM_014365.3(HSPB8):c.*648A>G	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 307428	NM_014365.3(HSPB8):c.*684G>A	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +2 more	GBenign
Select item 882104	NM_014365.3(HSPB8):c.*788C>T	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance
Select item 307430	NM_014365.3(HSPB8):c.*803T>C	HSPB8	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, type 2A +1 more	GUncertain significance
Select item 883245	NM_014365.3(HSPB8):c.*860T>C	HSPB8	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2L +1 more	GUncertain significance

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Items: 34