29657[HGNC] - ClinVar

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Items: 52

	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 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 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 152348	GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	AK4, C1orf141 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 149153	GRCh38/hg38 1p31.3(chr1:66616829-66948603)x1	DNAI4, DYNLT5 +9 more	Copy number loss	See cases	GUncertain significance
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 2281136	NM_001077700.3(MIER1):c.187A>C (p.Ser63Arg)	MIER1 (S10R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259216	NM_001077700.3(MIER1):c.219T>A (p.His73Gln)	MIER1 (H110Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324380	NM_001077700.3(MIER1):c.232T>G (p.Ser78Ala)	MIER1 (S115A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126440	NM_001077700.3(MIER1):c.329A>T (p.Asp110Val)	MIER1 (D57V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456673	NM_001077700.3(MIER1):c.370A>T (p.Ser124Cys)	MIER1 (S161C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594309	NM_001077700.3(MIER1):c.474C>A (p.Asp158Glu)	MIER1 (D195E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368491	NM_001077700.3(MIER1):c.513A>G (p.Ile171Met)	MIER1 (I135M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468725	NM_001077700.3(MIER1):c.561T>A (p.Asp187Glu)	MIER1 (D134E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601117	NM_001077700.3(MIER1):c.604C>T (p.Arg202Cys)	MIER1 (R122C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294852	NM_001077700.3(MIER1):c.605G>A (p.Arg202His)	MIER1 (R166H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126441	NM_001077700.3(MIER1):c.614G>A (p.Arg205Gln)	MIER1 (R89Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294853	NM_001077700.3(MIER1):c.672T>G (p.Asp224Glu)	MIER1 (D108E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126442	NM_001077700.3(MIER1):c.770A>G (p.Lys257Arg)	MIER1 (K221R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126443	NM_001077700.3(MIER1):c.808G>C (p.Glu270Gln)	MIER1 (E270Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294855	NM_001077700.3(MIER1):c.1029G>T (p.Glu343Asp)	MIER1 (E227D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126437	NM_001077700.3(MIER1):c.1246C>T (p.Leu416Phe)	MIER1, SLC35D1 (L380F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024943	NM_001077700.3(MIER1):c.1378T>C (p.Ser460Pro)	LOC129388544, LOC129930727 +2 more (S344P +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3294851	NM_001077700.3(MIER1):c.1439A>G (p.Asn480Ser)	LOC129388544, MIER1 +1 more (N427S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126438	NM_001077700.3(MIER1):c.1465C>T (p.Pro489Ser)	LOC129388544, MIER1 +1 more (P409S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515973	NM_001077700.3(MIER1):c.1487C>T (p.Thr496Ile)	LOC129388544, MIER1 +1 more (T460I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126439	NM_001077700.3(MIER1):c.1510C>G (p.Leu504Val)	LOC129388544, MIER1 +1 more (L504V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281735	NM_001077700.3(MIER1):c.1528C>T (p.Leu510Phe)	LOC129388544, MIER1 +1 more (L430F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375648	NM_001077700.3(MIER1):c.1531G>A (p.Ala511Thr)	LOC129388544, MIER1 +1 more (A458T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294854	NM_001077700.3(MIER1):c.1618G>C (p.Glu540Gln)	MIER1, SLC35D1 (E460Q +4 more)	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 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2424397	NC_000001.10:g.(?_65299551)_(67861772_?)del	AK4, C1orf141 +14 more	Deletion	not provided	GPathogenic
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
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 565106	GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1	SGIP1, JAK1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
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
Select item 221411	GRCh37/hg19 1p31.3(chr1:67327908-67519596)x3	DNAI4, MIER1 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 52