ECHDC1[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	C6orf58, CENPW +61 more	Copy number loss	See cases	GUncertain significance
Select item 58445	GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1	C6orf58, CENPW +34 more	Copy number loss	See cases	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
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
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1527286	GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)	C6orf58, CENPW +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1340790	GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1	C6orf58, CENPW +17 more	Copy number loss	not provided	GPathogenic
Select item 563233	GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)x1	RSPO3, ECHDC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 493588	GRCh37/hg19 6q22.33(chr6:127451298-127807918)x1	RNF146, RSPO3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 442326	GRCh37/hg19 6q22.33(chr6:127303904-128482021)x1	C6orf58, PTPRK +6 more	Copy number loss	See cases	GLikely benign

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Items: 41