HNRNPU-AS1[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1979139	NM_198076.6(COX20):c.43-4del	COX20, HNRNPU-AS1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1968455	NM_198076.6(COX20):c.61T>C (p.Phe21Leu)	HNRNPU-AS1, COX20 (F21L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2058017	NM_198076.6(COX20):c.88G>A (p.Ala30Thr)	HNRNPU-AS1, COX20 (A30T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1801139	NM_198076.6(COX20):c.107A>G (p.Tyr36Cys)	COX20, HNRNPU-AS1 (Y36C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 591984	NM_198076.6(COX20):c.109G>A (p.Gly37Ser)	COX20, HNRNPU-AS1 (G37S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 798926	NM_198076.6(COX20):c.115T>C (p.Leu39=)	HNRNPU-AS1, COX20	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GLikely benign
Select item 55889	NM_198076.6(COX20):c.154A>C (p.Thr52Pro)	COX20, HNRNPU-AS1 (T52P +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11	GPathogenic
Select item 432104	NM_198076.6(COX20):c.157+1G>A	COX20, HNRNPU-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1705158	NM_198076.6(COX20):c.185dup (p.Val63fs)	COX20, HNRNPU-AS1 (E61fs +3 more)	Duplication (frameshift variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 11	GLikely pathogenic
Select item 2504981	NM_198076.6(COX20):c.194G>A (p.Gly65Glu)	COX20, HNRNPU-AS1 (G20E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 382376	NM_198076.6(COX20):c.222-3A>C	COX20, HNRNPU-AS1	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 11 +3 more	GConflicting classifications of pathogenicity
Select item 214273	NM_198076.6(COX20):c.226C>A (p.His76Asn)	HNRNPU-AS1, COX20 (H76N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 389619	NM_198076.6(COX20):c.234G>A (p.Arg78=)	COX20, HNRNPU-AS1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2430836	NM_198076.6(COX20):c.268A>T (p.Ile90Phe)	COX20, HNRNPU-AS1 (I102F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2112929	NM_198076.6(COX20):c.310A>G (p.Thr104Ala)	HNRNPU-AS1, COX20 (T116A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2185914	NM_198076.6(COX20):c.319G>T (p.Asp107Tyr)	COX20, HNRNPU-AS1 (D107Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214274	NM_198076.6(COX20):c.319G>A (p.Asp107Asn)	COX20, HNRNPU-AS1 (D107N +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GUncertain significance
Select item 2537913	NM_198076.6(COX20):c.323C>T (p.Pro108Leu)	COX20, HNRNPU-AS1 (P63L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 386593	NM_198076.6(COX20):c.342C>T (p.Gly114=)	COX20, HNRNPU-AS1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign