ECHDC1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2536947	NM_001002030.2(ECHDC1):c.890G>A (p.Gly297Glu)	ECHDC1 (G222E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352644	NM_001002030.2(ECHDC1):c.822G>T (p.Gln274His)	ECHDC1 (Q199H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208580	NM_001002030.2(ECHDC1):c.814G>A (p.Ala272Thr)	ECHDC1 (A272T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296168	NM_001002030.2(ECHDC1):c.684G>C (p.Gln228His)	ECHDC1 (Q228H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237267	NM_001002030.2(ECHDC1):c.614T>C (p.Val205Ala)	ECHDC1 (V211A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525739	NM_001002030.2(ECHDC1):c.592G>A (p.Gly198Arg)	ECHDC1 (G198R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389861	NM_001002030.2(ECHDC1):c.575G>A (p.Arg192Gln)	ECHDC1 (R192Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354364	NM_001002030.2(ECHDC1):c.529G>A (p.Val177Ile)	ECHDC1 (V102I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255831	NM_001002030.2(ECHDC1):c.513G>C (p.Glu171Asp)	ECHDC1 (E171D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 978064	NM_001002030.2(ECHDC1):c.498-40AG[2]	ECHDC1	Microsatellite (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 978063	NM_001002030.2(ECHDC1):c.389T>C (p.Met130Thr)	ECHDC1 (M130T +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2477678	NM_001002030.2(ECHDC1):c.355A>G (p.Thr119Ala)	ECHDC1 (T119A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233580	NM_001002030.2(ECHDC1):c.231G>A (p.Met77Ile)	ECHDC1 (M83I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229956	NM_001002030.2(ECHDC1):c.229A>G (p.Met77Val)	ECHDC1 (M2V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 978062	NM_001002030.2(ECHDC1):c.221-4_222delinsTA	ECHDC1	Indel (splice acceptor variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2519951	NM_001002030.2(ECHDC1):c.17T>G (p.Leu6Trp)	ECHDC1 (L12W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238849	NM_001002030.2(ECHDC1):c.12T>A (p.Ser4Arg)	ECHDC1 (S10R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620451	NM_001002030.2(ECHDC1):c.-3+979G>C	ECHDC1 (Q5H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance