26854[HGNC] - ClinVar

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Items: 51

	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 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 2328783	NM_001110533.2(CIMAP2):c.20C>T (p.Ala7Val)	CIMAP2 (A7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638838	NM_001110533.2(CIMAP2):c.36C>G (p.Gly12=)	CIMAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470669	NM_001110533.2(CIMAP2):c.77G>C (p.Gly26Ala)	CIMAP2 (G26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267400	NM_001110533.2(CIMAP2):c.91G>T (p.Val31Leu)	CIMAP2 (V31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302924	NM_001110533.2(CIMAP2):c.91G>A (p.Val31Met)	CIMAP2 (V31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235607	NM_001110533.2(CIMAP2):c.98G>A (p.Ser33Asn)	CIMAP2 (S33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235496	NM_001110533.2(CIMAP2):c.175C>T (p.Arg59Cys)	CIMAP2 (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235500	NM_001110533.2(CIMAP2):c.176G>A (p.Arg59His)	CIMAP2 (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235507	NM_001110533.2(CIMAP2):c.187C>G (p.Gln63Glu)	CIMAP2 (Q63E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3235516	NM_001110533.2(CIMAP2):c.232T>G (p.Cys78Gly)	CIMAP2 (C78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267407	NM_001110533.2(CIMAP2):c.296C>T (p.Thr99Met)	CIMAP2 (T99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235517	NM_001110533.2(CIMAP2):c.349C>T (p.Arg117Trp)	CIMAP2 (R117W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361644	NM_001110533.2(CIMAP2):c.380C>A (p.Ser127Tyr)	CIMAP2 (S127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347545	NM_001110533.2(CIMAP2):c.431C>T (p.Thr144Ile)	CIMAP2 (T144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235534	NM_001110533.2(CIMAP2):c.433C>T (p.Arg145Trp)	CIMAP2 (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361240	NM_001110533.2(CIMAP2):c.518G>A (p.Gly173Asp)	CIMAP2 (G173D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267399	NM_001110533.2(CIMAP2):c.526T>C (p.Tyr176His)	CIMAP2 (Y176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235548	NM_001110533.2(CIMAP2):c.557G>A (p.Arg186Gln)	CIMAP2 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267408	NM_001110533.2(CIMAP2):c.572G>C (p.Gly191Ala)	CIMAP2 (G191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235554	NM_001110533.2(CIMAP2):c.572G>T (p.Gly191Val)	CIMAP2 (G191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267401	NM_001110533.2(CIMAP2):c.588G>A (p.Met196Ile)	CIMAP2 (M196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267406	NM_001110533.2(CIMAP2):c.601C>T (p.His201Tyr)	CIMAP2 (H201Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235556	NM_001110533.2(CIMAP2):c.607C>T (p.Arg203Trp)	CIMAP2 (R203W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235558	NM_001110533.2(CIMAP2):c.691A>C (p.Thr231Pro)	CIMAP2 (T231P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267404	NM_001110533.2(CIMAP2):c.709A>G (p.Thr237Ala)	CIMAP2 (T237A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235564	NM_001110533.2(CIMAP2):c.725G>A (p.Arg242Gln)	CIMAP2 (R242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267403	NM_001110533.2(CIMAP2):c.763A>G (p.Lys255Glu)	CIMAP2 (K255E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471840	NM_001110533.2(CIMAP2):c.768A>C (p.Lys256Asn)	CIMAP2 (K256N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235580	NM_001110533.2(CIMAP2):c.784A>G (p.Met262Val)	CIMAP2 (M262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235588	NM_001110533.2(CIMAP2):c.835C>T (p.His279Tyr)	CIMAP2 (H279Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235598	NM_001110533.2(CIMAP2):c.937C>T (p.Pro313Ser)	CIMAP2 (P313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235485	NM_001110533.2(CIMAP2):c.1000A>C (p.Thr334Pro)	CIMAP2 (T334P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267405	NM_001110533.2(CIMAP2):c.1109G>C (p.Arg370Pro)	CIMAP2 (R370P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367008	NM_001110533.2(CIMAP2):c.1169G>A (p.Arg390Gln)	CIMAP2 (R390Q)	Single nucleotide variant (missense variant)	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 2425971	NC_000001.10:g.(?_55223407)_(55352792_?)dup	CIMAP2, DHCR24 +2 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 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 980375	GRCh37/hg19 1p32.3(chr1:55090187-55313988)x3	TTC4, LEXM +4 more	Copy number gain	not provided	GLikely benign
Select item 979902	GRCh37/hg19 1p32.3(chr1:55036105-55274639)x3	ACOT11, TTC4 +5 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 565100	GRCh37/hg19 1p32.3(chr1:55038842-55347867)x3	MROH7, ACOT11 +6 more	Copy number gain	not provided	GLikely benign
Select item 565099	GRCh37/hg19 1p32.3(chr1:55036657-55800829)x3	ACOT11, BSND +10 more	Copy number gain	not provided	GUncertain significance
Select item 565098	GRCh37/hg19 1p32.3(chr1:54575439-55381546)x1	MRPL37, TTC22 +10 more	Copy number loss	not provided	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

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Items: 51