ClinVar for MedGen (Select 767019) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446360	NM_012208.4(HARS2):c.1273C>T (p.Arg425Trp)	HARS2 (R281W +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GLikely pathogenic
Select item 2441989	NM_012208.4(HARS2):c.1462-3C>T	HARS2	Single nucleotide variant (intron variant)	Perrault syndrome 2	GUncertain significance
Select item 1805167	NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)	HARS2 (S340fs +4 more)	Indel (frameshift variant)	Perrault syndrome 2	GUncertain significance
Select item 1297062	NM_012208.4(HARS2):c.322T>C (p.Tyr108His)	HARS2 (Y108H +3 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 2	GUncertain significance
Select item 1206267	NM_012208.4(HARS2):c.1254G>C (p.Gln418His)	HARS2 (Q274H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1185636	NM_012208.4(HARS2):c.1320G>T (p.Glu440Asp)	HARS2 (E296D +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GUncertain significance
Select item 1185124	NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala)	HARS2 (G324A +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GLikely pathogenic
Select item 1185123	NM_012208.4(HARS2):c.399+1G>A	HARS2	Single nucleotide variant (intron variant +1 more)	Perrault syndrome 2	GLikely pathogenic
Select item 982371	NM_012208.4(HARS2):c.647G>A (p.Arg216Gln)	HARS2 (R146Q +3 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GPathogenic
Select item 671555	NM_012208.4(HARS2):c.1461+36A>G	HARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 633638	NM_012208.4(HARS2):c.137T>A (p.Leu46Gln)	HARS2 (L46Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Perrault syndrome 2	GLikely pathogenic
Select item 225386	NM_012208.4(HARS2):c.489dup (p.Ile164fs)	HARS2 (I139fs +3 more)	Duplication (frameshift variant +1 more)	Perrault syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 214547	NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg)	HARS2 (G369R +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 214546	NM_012208.4(HARS2):c.697C>T (p.Arg233Cys)	HARS2 (R233C +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 214543	NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)	HARS2 (R150C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 214542	NM_012208.4(HARS2):c.172A>G (p.Lys58Glu)	HARS2 (K58E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 208286	NM_012208.4(HARS2):c.1102G>T (p.Val368Leu)	HARS2 (V368L +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GPathogenic/Likely pathogenic
Select item 137534	NM_012208.4(HARS2):c.324T>C (p.Tyr108=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	HARS2-related condition +3 more	GBenign/Likely benign
Select item 39620	NM_012208.4(HARS2):c.598C>G (p.Leu200Val)	HARS2 (L200V +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 21