TM2D1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 59358	GRCh38/hg38 1p32.1-31.3(chr1:59871038-62029355)x1	C1orf87, CYP2J2 +32 more	Copy number loss	See cases	GUncertain significance
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 2579168	GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1	LOC111501769, LOC121725026 +43 more	Copy number loss	Brain malformations with or without urinary tract defects	GPathogenic
Select item 152979	GRCh38/hg38 1p31.3(chr1:61228279-61733985)x3	LOC110121050, LOC110121108 +14 more	Copy number gain	See cases	GBenign
Select item 57304	GRCh38/hg38 1p31.3(chr1:61258246-63189366)x3	ANGPTL3, ATG4C +44 more	Copy number gain	See cases	GUncertain significance
Select item 2615212	NM_032027.3(TM2D1):c.563C>T (p.Thr188Ile)	TM2D1 (T188I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311874	NM_032027.3(TM2D1):c.544A>T (p.Ile182Phe)	TM2D1 (I182F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508530	NM_032027.3(TM2D1):c.442T>G (p.Leu148Val)	TM2D1 (L148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277763	NM_032027.3(TM2D1):c.376G>A (p.Ala126Thr)	TM2D1 (A126T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326451	NM_032027.3(TM2D1):c.333A>G (p.Ile111Met)	TM2D1 (I111M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359490	NM_032027.3(TM2D1):c.220A>G (p.Thr74Ala)	TM2D1 (T74A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465074	NM_032027.3(TM2D1):c.200C>T (p.Thr67Met)	TM2D1 (T67M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326448	NM_032027.3(TM2D1):c.154A>G (p.Lys52Glu)	LOC126805746, TM2D1 (K52E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248328	NM_032027.3(TM2D1):c.146A>G (p.Glu49Gly)	LOC126805746, TM2D1 (E49G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178086	NM_032027.3(TM2D1):c.122G>C (p.Gly41Ala)	LOC126805746, TM2D1 (G41A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346462	NM_032027.3(TM2D1):c.97T>G (p.Trp33Gly)	LOC126805746, TM2D1 (W33G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178087	NM_032027.3(TM2D1):c.76G>C (p.Val26Leu)	LOC126805746, TM2D1 (V26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326449	NM_032027.3(TM2D1):c.62G>T (p.Gly21Val)	LOC126805746, TM2D1 (G21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313673	NM_032027.3(TM2D1):c.58G>A (p.Val20Ile)	LOC126805746, TM2D1 (V20I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326450	NM_032027.3(TM2D1):c.34C>G (p.Pro12Ala)	LOC126805746, TM2D1 (P12A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351592	NM_032027.3(TM2D1):c.29C>T (p.Ser10Phe)	LOC126805746, TM2D1 (S10F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358166	NM_032027.3(TM2D1):c.25C>T (p.Pro9Ser)	LOC126805746, TM2D1 (P9S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 1809175	GRCh37/hg19 1p31.3(chr1:61699735-62380298)x3	NFIA, PATJ +1 more	Copy number gain	not provided	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
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 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 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 40