Related gene-specific medical variations for Gene (Select 116228) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2446887	NM_198076.6(COX20):c.42+1G>A	COX20, LOC129932912	Single nucleotide variant (splice donor variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 11	GPathogenic
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 2124588	NM_198076.6(COX20):c.42+11G>C	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1969731	NM_198076.6(COX20):c.9C>G (p.Ala3=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1924682	NM_198076.6(COX20):c.18G>A (p.Glu6=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916992	NM_198076.6(COX20):c.25G>A (p.Glu9Lys)	COX20, LOC129932912 (E9K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1916863	NM_198076.6(COX20):c.42+15G>A	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898390	NM_198076.6(COX20):c.42+8G>A	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895670	NM_198076.6(COX20):c.31G>A (p.Glu11Lys)	COX20, LOC129932912 (E11K)	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 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 1704931	NM_198076.6(COX20):c.42+156dup	COX20, LOC129932912	Duplication (intron variant)	not provided	GLikely benign
Select item 1649891	NM_198076.6(COX20):c.24T>C (p.Gly8=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1644151	NM_198076.6(COX20):c.9C>T (p.Ala3=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1515041	NM_198076.6(COX20):c.42+5C>T	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1472963	NM_198076.6(COX20):c.22G>A (p.Gly8Ser)	COX20, LOC129932912 (G8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1225828	NM_198076.5(COX20):c.-265C>T	COX20, LOC129932910	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 591995	NM_198076.6(COX20):c.19_33dup (p.Pro7_Glu11dup)	COX20, LOC129932912	Duplication (inframe_insertion +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 509566	NM_198076.6(COX20):c.30C>G (p.Pro10=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
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 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 389196	NM_198076.6(COX20):c.-38C>T	COX20, LOC129932911	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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
Select item 383938	NM_198076.6(COX20):c.41A>G (p.Lys14Arg)	LOC129932912, COX20 (K14R)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +3 more	GPathogenic
Select item 383480	NM_198076.6(COX20):c.-39C>G	COX20, LOC129932911	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
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 137020	NM_198076.6(COX20):c.42+9G>A	COX20, LOC129932912	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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

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Links from Gene

Items: 30