"Illumina Laboratory Services, Illumina"[submitter] AND "HSPD1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 895688	NM_002156.5(HSPD1):c.*459T>G	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 333301	NM_002156.5(HSPD1):c.*454T>G	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 333302	NM_002156.5(HSPD1):c.*384T>A	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 333303	NM_002156.5(HSPD1):c.*313A>G	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 895969	NM_002156.5(HSPD1):c.*121T>C	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 333304	NM_002156.5(HSPD1):c.*56G>A	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 333305	NM_002156.5(HSPD1):c.*18dup	HSPD1	Duplication (3 prime UTR variant)	Spastic paraplegia, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 137563	NM_002156.5(HSPD1):c.1688G>C (p.Gly563Ala)	HSPD1 (G563A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 333306	NM_002156.5(HSPD1):c.1446T>C (p.Asn482=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign
Select item 895970	NM_002156.5(HSPD1):c.1434C>G (p.Thr478=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +2 more	GBenign/Likely benign
Select item 895971	NM_002156.5(HSPD1):c.1388T>C (p.Ile463Thr)	HSPD1 (I463T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 239102	NM_002156.5(HSPD1):c.1360T>C (p.Leu454=)	HSPD1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 137562	NM_002156.5(HSPD1):c.1216-9C>T	HSPD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 333307	NM_002156.5(HSPD1):c.1207G>A (p.Val403Met)	HSPD1 (V403M)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 137561	NM_002156.5(HSPD1):c.1140C>T (p.Val380=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GBenign
Select item 897576	NM_002156.5(HSPD1):c.1029A>G (p.Gly343=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +1 more	GConflicting classifications of pathogenicity
Select item 333308	NM_002156.5(HSPD1):c.869+12T>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 333309	NM_002156.5(HSPD1):c.859G>A (p.Val287Ile)	HSPD1 (V287I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 188178	NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser)	HSPD1 (N265S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 377970	NM_002156.5(HSPD1):c.732T>G (p.Val244=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +2 more	GLikely benign
Select item 898732	NM_002156.5(HSPD1):c.662G>A (p.Arg221Gln)	HSPD1 (R221Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 333310	NM_002156.5(HSPD1):c.607-4A>G	HSPD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 219636	NM_002156.5(HSPD1):c.603A>G (p.Val201=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GBenign
Select item 898733	NM_002156.5(HSPD1):c.581G>A (p.Gly194Glu)	HSPD1 (G194E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 214549	NM_002156.5(HSPD1):c.561T>C (p.Ser187=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +6 more	GBenign/Likely benign
Select item 333311	NM_002156.5(HSPD1):c.429T>C (p.Gly143=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 137566	NM_002156.5(HSPD1):c.428-10G>A	HSPD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 333312	NM_002156.5(HSPD1):c.428-15A>G	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 129241	NM_002156.5(HSPD1):c.273A>G (p.Lys91=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +4 more	GBenign
Select item 895766	NM_002156.5(HSPD1):c.175-8T>C	HSPD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 13 +1 more	GConflicting classifications of pathogenicity
Select item 895767	NM_002156.5(HSPD1):c.145G>C (p.Asp49His)	HSPD1 (D49H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 137565	NM_002156.5(HSPD1):c.144C>T (p.Ala48=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign
Select item 129243	NM_002156.5(HSPD1):c.69T>C (p.Thr23=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +3 more	GBenign
Select item 129242	NM_002156.5(HSPD1):c.27C>G (p.Arg9=)	HSPD1	Single nucleotide variant (synonymous variant)	HSPD1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 333313	NM_002156.5(HSPD1):c.18A>G (p.Thr6=)	HSPD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 333314	NM_002156.5(HSPD1):c.-3+15C>A	HSPD1, LOC129935358	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 137560	NM_002156.5(HSPD1):c.-3+15C>T	HSPD1, LOC129935358	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 13 +1 more	GBenign
Select item 896048	NM_002156.5(HSPD1):c.-13C>T	HSPD1, LOC129935358	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 137567	NM_002156.5(HSPD1):c.-15C>T	HSPD1, LOC129935358	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 896049	NM_002156.5(HSPD1):c.-20C>G	HSPD1, LOC129935358	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 13	GBenign
Select item 333315	NM_002156.4(HSPD1):c.-66T>C	HSPD1, LOC129935358	Single nucleotide variant (intron variant)	Spastic paraplegia, autosomal dominant	GLikely benign
Select item 333316	NM_002156.4(HSPD1):c.-128C>G	HSPD1, LOC129935358	Single nucleotide variant (intron variant)	Spastic paraplegia, autosomal dominant	GUncertain significance

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Items: 42