55268[Gene ID] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 2592126	NM_001198961.2(ECHDC2):c.868G>A (p.Val290Ile)	ECHDC2 (V242I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401212	NM_001198961.2(ECHDC2):c.854G>A (p.Arg285Gln)	ECHDC2 (R237Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086944	NM_001198961.2(ECHDC2):c.826G>C (p.Glu276Gln)	ECHDC2 (E245Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086943	NM_001198961.2(ECHDC2):c.821G>A (p.Arg274Gln)	ECHDC2 (R197Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557477	NM_001198961.2(ECHDC2):c.788T>C (p.Met263Thr)	ECHDC2 (M263T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086942	NM_001198961.2(ECHDC2):c.746G>A (p.Gly249Glu)	ECHDC2 (G172E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387017	NM_001198961.2(ECHDC2):c.737T>C (p.Ile246Thr)	ECHDC2 (I215T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463588	NM_001198961.2(ECHDC2):c.725G>A (p.Gly242Asp)	ECHDC2 (G242D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383997	NM_001198961.2(ECHDC2):c.715G>A (p.Val239Met)	ECHDC2 (V208M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343423	NM_001198961.2(ECHDC2):c.680T>C (p.Leu227Pro)	ECHDC2 (L150P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395815	NM_001198961.2(ECHDC2):c.674G>A (p.Arg225Gln)	ECHDC2 (R225Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212112	NM_001198961.2(ECHDC2):c.658G>A (p.Ala220Thr)	ECHDC2 (A189T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468101	NM_001198961.2(ECHDC2):c.655G>A (p.Ala219Thr)	ECHDC2 (A188T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274410	NM_001198961.2(ECHDC2):c.654C>T (p.Asp218=)	ECHDC2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3086940	NM_001198961.2(ECHDC2):c.604C>T (p.His202Tyr)	ECHDC2 (H171Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377829	NM_001198961.2(ECHDC2):c.494G>A (p.Arg165Gln)	ECHDC2 (R134Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286101	NM_001198961.2(ECHDC2):c.434T>C (p.Leu145Pro)	ECHDC2 (L145P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462297	NM_001198961.2(ECHDC2):c.392C>T (p.Ala131Val)	ECHDC2 (A131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235055	NM_001198961.2(ECHDC2):c.343C>T (p.Arg115Trp)	ECHDC2 (R115W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231488	NM_001198961.2(ECHDC2):c.233G>A (p.Arg78His)	ECHDC2 (R32H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371490	NM_001198961.2(ECHDC2):c.224G>A (p.Arg75Gln)	ECHDC2 (R29Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518562	NM_001198961.2(ECHDC2):c.157C>T (p.Arg53Cys)	ECHDC2 (R53C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274409	NM_001198961.2(ECHDC2):c.106G>A (p.Ala36Thr)	ECHDC2 (A36T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086939	NM_001198961.2(ECHDC2):c.58G>A (p.Ala20Thr)	ECHDC2 (A20T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324879	NM_001198961.2(ECHDC2):c.50G>A (p.Arg17His)	ECHDC2 (R17H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344226	NM_001198961.2(ECHDC2):c.38C>T (p.Pro13Leu)	ECHDC2 (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685805	GRCh37/hg19 1p32.3(chr1:53225500-53499298)x3	SCP2, ZYG11A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1374246	NC_000001.10:g.(?_53153392)_(53493763_?)dup	COA7, ECHDC2 +3 more	Duplication	not provided	GUncertain significance
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 814082	GRCh37/hg19 1p32.3(chr1:53039602-53734721)x3	SLC1A7, MAGOH +11 more	Copy number gain	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443438	GRCh37/hg19 1p32.3(chr1:53370010-54017544)x3	CPT2, CZIB +8 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 39