Related gene-specific medical variations for Gene (Select 3329) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684232	NM_002156.5(HSPD1):c.183A>G (p.Thr61=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2432543	NM_002156.5(HSPD1):c.1253A>C (p.Lys418Thr)	HSPD1 (K418T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986925	NM_002156.5(HSPD1):c.329G>T (p.Gly110Val)	HSPD1 (G110V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 509987	NM_002156.5(HSPD1):c.-3+4C>T	HSPD1, LOC129935358	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 445865	NM_002156.5(HSPD1):c.1426G>T (p.Ala476Ser)	HSPD1 (A476S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333316	NM_002156.4(HSPD1):c.-128C>G	HSPD1, LOC129935358	Single nucleotide variant (intron variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
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 333314	NM_002156.5(HSPD1):c.-3+15C>A	HSPD1, LOC129935358	Single nucleotide variant (intron variant)	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 137560	NM_002156.5(HSPD1):c.-3+15C>T	HSPD1, LOC129935358	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 13 +1 more	GBenign