Related gene-specific medical variations for Gene (Select 23438) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237486	NM_012208.4(HARS2):c.1039C>G (p.Gln347Glu)	HARS2 (Q203E +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GUncertain significance
Select item 2782844	NM_012208.4(HARS2):c.95G>T (p.Arg32Leu)	HARS2, LOC119407423 (R32L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2544290	NM_012208.4(HARS2):c.100C>A (p.Gln34Lys)	HARS2, LOC119407423 (Q34K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2441989	NM_012208.4(HARS2):c.1462-3C>T	HARS2	Single nucleotide variant (intron variant)	Perrault syndrome 2	GUncertain significance
Select item 2313492	NM_012208.4(HARS2):c.76T>G (p.Ser26Ala)	HARS2, LOC119407423 (S26A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2203771	NM_012208.4(HARS2):c.1010A>G (p.Tyr337Cys)	HARS2 (Y343C +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome	Gnot provided
Select item 2153560	NM_012208.4(HARS2):c.74_100del (p.Ala25_Gln34delinsGlu)	HARS2, LOC119407423	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 2136282	NM_012208.4(HARS2):c.94C>G (p.Arg32Gly)	HARS2, LOC119407423 (R32G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2093623	NM_012208.4(HARS2):c.78G>A (p.Ser26=)	HARS2, LOC119407423	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2067878	NM_012208.4(HARS2):c.69del (p.Cys24fs)	HARS2, LOC119407423 (C24fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 635273	NM_012208.4(HARS2):c.72C>A (p.Cys24Ter)	HARS2, LOC119407423 (C24*)	Single nucleotide variant (nonsense +2 more)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 633640	NM_012208.4(HARS2):c.259C>T (p.Arg87Cys)	HARS2 (R87C +3 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GLikely pathogenic
Select item 633639	NM_012208.4(HARS2):c.980G>A (p.Arg327Gln)	HARS2 (R327Q +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GLikely pathogenic
Select item 517388	NM_012208.4(HARS2):c.-2C>T	HARS2, LOC119407423	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 390694	NM_012208.4(HARS2):c.-32C>T	LOC119407423, HARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 228737	NM_012208.4(HARS2):c.-4C>G	HARS2, LOC119407423	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 137536	NM_012208.4(HARS2):c.7C>G (p.Leu3Val)	HARS2, LOC119407423 (L3V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity