"GeneDx"[submitter] AND "HSPD1"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
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 422847	NM_002156.5(HSPD1):c.*18del	HSPD1	Deletion (3 prime UTR variant)	not specified	GLikely benign
Select item 137563	NM_002156.5(HSPD1):c.1688G>C (p.Gly563Ala)	HSPD1 (G563A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 3338749	NM_002156.5(HSPD1):c.1658A>G (p.Glu553Gly)	HSPD1 (E553G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340237	NM_002156.5(HSPD1):c.1625C>G (p.Ala542Gly)	HSPD1 (A542G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343254	NM_002156.5(HSPD1):c.1607C>G (p.Ala536Gly)	HSPD1 (A536G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 216941	NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)	HSPD1 (A536V)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1326803	NM_002156.5(HSPD1):c.1570-138A>G	HSPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317035	NM_002156.5(HSPD1):c.1510G>A (p.Asp504Asn)	HSPD1 (D504N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390700	NM_002156.5(HSPD1):c.1488A>G (p.Gln496=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 392132	NM_002156.5(HSPD1):c.1464T>C (p.Ser488=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 1722779	NM_002156.5(HSPD1):c.1381C>A (p.Gln461Lys)	HSPD1 (Q461K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 239102	NM_002156.5(HSPD1):c.1360T>C (p.Leu454=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +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 1293445	NM_002156.5(HSPD1):c.1216-54A>T	HSPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137561	NM_002156.5(HSPD1):c.1140C>T (p.Val380=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 512546	NM_002156.5(HSPD1):c.970-6T>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GLikely benign
Select item 1238887	NM_002156.5(HSPD1):c.870-119CA[3]	HSPD1	Microsatellite (intron variant)	not provided	GBenign
Select item 1250290	NM_002156.5(HSPD1):c.870-137dup	HSPD1	Duplication (intron variant)	not provided	GBenign
Select item 1292122	NM_002156.5(HSPD1):c.870-133A>C	HSPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377970	NM_002156.5(HSPD1):c.732T>G (p.Val244=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GLikely benign
Select item 1183304	NM_002156.5(HSPD1):c.700+96T>C	HSPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387134	NM_002156.5(HSPD1):c.607-10C>T	HSPD1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 671556	NM_002156.5(HSPD1):c.607-53C>G	HSPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266546	NM_002156.5(HSPD1):c.606+113_606+114insAG	HSPD1	Insertion (intron variant)	not provided	GBenign
Select item 1259574	NM_002156.5(HSPD1):c.606+42_606+65del	HSPD1	Deletion (intron variant)	not provided	GBenign
Select item 219636	NM_002156.5(HSPD1):c.603A>G (p.Val201=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +2 more	GBenign
Select item 214549	NM_002156.5(HSPD1):c.561T>C (p.Ser187=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +5 more	GBenign/Likely benign
Select item 1321774	NM_002156.5(HSPD1):c.510+143C>A	HSPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515335	NM_002156.5(HSPD1):c.483T>C (p.Pro161=)	HSPD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 137566	NM_002156.5(HSPD1):c.428-10G>A	HSPD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1220470	NM_002156.5(HSPD1):c.428-127dup	HSPD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1180123	NM_002156.5(HSPD1):c.427+210_427+213del	HSPD1	Deletion (intron variant)	not provided	GBenign
Select item 214551	NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys)	HSPD1 (R142K)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 214550	NM_002156.5(HSPD1):c.397A>G (p.Lys133Glu)	HSPD1 (K133E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2662680	NM_002156.5(HSPD1):c.311A>G (p.Asn104Ser)	HSPD1 (N104S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129241	NM_002156.5(HSPD1):c.273A>G (p.Lys91=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign
Select item 2014241	NM_002156.5(HSPD1):c.238G>A (p.Val80Ile)	HSPD1 (V80I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1321771	NM_002156.5(HSPD1):c.174+65G>A	HSPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137565	NM_002156.5(HSPD1):c.144C>T (p.Ala48=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign
Select item 676586	NM_002156.5(HSPD1):c.108C>T (p.Ala36=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 129243	NM_002156.5(HSPD1):c.69T>C (p.Thr23=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 2574536	NM_002156.5(HSPD1):c.47G>T (p.Arg16Met)	HSPD1 (R16M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129242	NM_002156.5(HSPD1):c.27C>G (p.Arg9=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 333313	NM_002156.5(HSPD1):c.18A>G (p.Thr6=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 137564	NM_002156.5(HSPD1):c.-2-20C>T	HSPD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1194692	NM_002156.5(HSPD1):c.-2-92C>A	HSPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268372	NM_002156.5(HSPD1):c.-2-213T>C	HSPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316127	NM_002156.5(HSPD1):c.-3+138_-3+151del	HSPD1	Deletion (intron variant)	not provided	GLikely benign
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 509987	NM_002156.5(HSPD1):c.-3+4C>T	HSPD1, LOC129935358	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 137567	NM_002156.5(HSPD1):c.-15C>T	HSPD1, LOC129935358	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1271798	NC_000002.12:g.197500319C>G	HSPD1	Single nucleotide variant	not provided	GBenign
Select item 1206817	NC_000002.12:g.197500356dup	HSPD1	Duplication	not provided	GLikely benign
Select item 253668	GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1	C2orf66, BOLL +21 more	Copy number loss	See cases	GPathogenic

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Items: 58