Related gene-specific medical variations for Gene (Select 23474) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248453	NC_000019.9:g.(?_44011044)_(44014899_?)del	ETHE1	Deletion	Ethylmalonic encephalopathy	GPathogenic
Select item 3248452	NC_000019.9:g.(?_44030333)_(44031420_?)del	ETHE1	Deletion	Ethylmalonic encephalopathy	GPathogenic
Select item 3248451	NC_000019.9:g.(?_44015569)_(44015738_?)del	ETHE1	Deletion	Ethylmalonic encephalopathy	GPathogenic
Select item 3241439	NM_014297.5(ETHE1):c.56del (p.Ser19fs)	ETHE1 (S19fs)	Deletion (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 3241438	NM_014297.5(ETHE1):c.501del (p.Gln167fs)	ETHE1 (Q156fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 3241437	NM_014297.5(ETHE1):c.495del (p.Phe166fs)	ETHE1 (F155fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 3020951	NM_014297.5(ETHE1):c.15A>G (p.Val5=)	ETHE1, LOC130064595	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GLikely benign
Select item 2833401	NM_014297.5(ETHE1):c.1A>C (p.Met1Leu)	ETHE1, LOC130064595 (M1L)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy	GPathogenic
Select item 2675150	NM_014297.5(ETHE1):c.375+1G>T	ETHE1	Single nucleotide variant (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675149	NM_014297.5(ETHE1):c.312_319del (p.Leu105fs)	ETHE1 (L105fs +1 more)	Deletion (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675148	NM_014297.5(ETHE1):c.82-96_119del	ETHE1	Deletion (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675147	NM_014297.5(ETHE1):c.542dup (p.Ile182fs)	ETHE1 (I171fs +3 more)	Duplication (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675144	NM_014297.5(ETHE1):c.376-2A>G	ETHE1	Single nucleotide variant (splice acceptor variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675143	NM_014297.5(ETHE1):c.48_49dup (p.Gly17fs)	ETHE1 (G17fs)	Microsatellite (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675142	NM_014297.5(ETHE1):c.703C>T (p.Gln235Ter)	ETHE1 (Q112* +3 more)	Single nucleotide variant (nonsense)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675141	NM_014297.5(ETHE1):c.68del (p.Ile23fs)	ETHE1 (I23fs)	Deletion (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675140	NM_014297.5(ETHE1):c.227-1G>T	ETHE1	Single nucleotide variant (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2152319	NM_014297.5(ETHE1):c.2T>A (p.Met1Lys)	ETHE1, LOC130064595 (M1K)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy	GPathogenic
Select item 1989563	NM_014297.5(ETHE1):c.11C>T (p.Ala4Val)	ETHE1, LOC130064595 (A4V)	Single nucleotide variant (missense variant +1 more)	Ethylmalonic encephalopathy	GUncertain significance
Select item 1809751	NM_014297.5(ETHE1):c.576C>A (p.Tyr192Ter)	ETHE1 (Y181* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 991179	NM_014297.5(ETHE1):c.11C>G (p.Ala4Gly)	ETHE1, LOC130064595 (A4G)	Single nucleotide variant (5 prime UTR variant +1 more)	Ethylmalonic encephalopathy	GUncertain significance
Select item 936639	NM_014297.5(ETHE1):c.10_13dup (p.Val5fs)	ETHE1, LOC130064595 (V5fs)	Duplication (frameshift variant +1 more)	Ethylmalonic encephalopathy	GPathogenic
Select item 632313	NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)	ETHE1, LOC130064595 (M1T)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy	GPathogenic/Likely pathogenic
Select item 384566	NM_014297.5(ETHE1):c.-20C>T	ETHE1, LOC130064595	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381027	NM_014297.5(ETHE1):c.-24A>C	ETHE1, LOC130064595	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 329445	NM_014297.5(ETHE1):c.9G>A (p.Glu3=)	ETHE1, LOC130064595	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GConflicting classifications of pathogenicity
Select item 260385	NM_014297.5(ETHE1):c.6G>A (p.Ala2=)	ETHE1, LOC130064595	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 2318	NM_014297.5(ETHE1):c.3G>T (p.Met1Ile)	ETHE1, LOC130064595 (M1I)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy +1 more	GPathogenic

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Links from Gene

Items: 28