"HARS1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029189	NM_002109.6(HARS1):c.1458+3G>A	HARS1	Single nucleotide variant (intron variant)	HARS1-related disorder	GLikely benign
Select item 472990	NM_002109.6(HARS1):c.1445C>T (p.Thr482Met)	HARS1 (T482M +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 804288	NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	HARS1 (I351L +6 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy +14 more	GConflicting classifications of pathogenicity
Select item 745988	NM_002109.6(HARS1):c.622C>T (p.Leu208=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B +1 more	GLikely benign
Select item 953904	NM_002109.6(HARS1):c.383G>A (p.Arg128His)	HARS1 (R88H +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 508585	NM_002109.6(HARS1):c.234C>T (p.Asp78=)	HARS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 965557	NM_002109.6(HARS1):c.90+4A>C	HARS1, LOC129994848	Single nucleotide variant (intron variant)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 540209	NM_002109.6(HARS1):c.72G>A (p.Gln24=)	HARS1, LOC129994848	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B +3 more	GLikely benign
Select item 472993	NM_002109.6(HARS1):c.52G>A (p.Val18Met)	HARS1, LOC129994848 (V18M)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B +2 more	GUncertain significance