9377[HGNC] - ClinVar

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Items: 41

	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 149037	GRCh38/hg38 1p32.2(chr1:56429283-57190889)x3	C8A, C8B +16 more	Copy number gain	See cases	GUncertain significance
Select item 3218695	NM_006252.4(PRKAA2):c.15G>C (p.Gln5His)	PRKAA2 (Q5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548648	NM_006252.4(PRKAA2):c.19C>A (p.His7Asn)	PRKAA2 (H7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218698	NM_006252.4(PRKAA2):c.43C>T (p.His15Tyr)	PRKAA2 (H15Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774155	NM_006252.4(PRKAA2):c.95-7T>C	PRKAA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3056337	NM_006252.4(PRKAA2):c.111A>G (p.Leu37=)	PRKAA2	Single nucleotide variant (synonymous variant)	PRKAA2-related disorder	GBenign
Select item 3218697	NM_006252.4(PRKAA2):c.328C>T (p.Arg110Trp)	PRKAA2 (R110W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623417	NM_006252.4(PRKAA2):c.352C>T (p.Arg118Trp)	PRKAA2 (R118W)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 2467724	NM_006252.4(PRKAA2):c.587A>G (p.Asp196Gly)	PRKAA2 (D196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242618	NM_006252.4(PRKAA2):c.656T>C (p.Val219Ala)	PRKAA2 (V219A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043336	NM_006252.4(PRKAA2):c.728C>T (p.Thr243Ile)	PRKAA2 (T243I)	Single nucleotide variant (missense variant)	PRKAA2-related disorder	GLikely benign
Select item 3039233	NM_006252.4(PRKAA2):c.749A>G (p.Gln250Arg)	PRKAA2 (Q250R)	Single nucleotide variant (missense variant)	PRKAA2-related disorder	GLikely benign
Select item 730280	NM_006252.4(PRKAA2):c.789-4C>T	PRKAA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3218699	NM_006252.4(PRKAA2):c.812A>G (p.Asp271Gly)	PRKAA2 (D271G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382039	NM_006252.4(PRKAA2):c.859G>A (p.Val287Ile)	PRKAA2 (V287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218700	NM_006252.4(PRKAA2):c.934T>G (p.Tyr312Asp)	PRKAA2 (Y312D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779398	NM_006252.4(PRKAA2):c.939T>C (p.Ser313=)	PRKAA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3218692	NM_006252.4(PRKAA2):c.1014T>A (p.Ser338Arg)	PRKAA2 (S338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460170	NM_006252.4(PRKAA2):c.1045G>A (p.Gly349Ser)	PRKAA2 (G349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218693	NM_006252.4(PRKAA2):c.1166C>T (p.Thr389Met)	PRKAA2 (T389M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762260	NM_006252.4(PRKAA2):c.1236G>A (p.Pro412=)	PRKAA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2275179	NM_006252.4(PRKAA2):c.1250C>T (p.Ala417Val)	PRKAA2 (A417V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782795	NM_006252.4(PRKAA2):c.1399T>C (p.Leu467=)	PRKAA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3218694	NM_006252.4(PRKAA2):c.1457C>T (p.Pro486Leu)	PRKAA2 (P486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541020	NM_006252.4(PRKAA2):c.1462C>T (p.Arg488Cys)	PRKAA2 (R488C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346704	NM_006252.4(PRKAA2):c.1556C>T (p.Ser519Phe)	PRKAA2 (S519F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053540	NM_006252.4(PRKAA2):c.1563C>T (p.Thr521=)	PRKAA2	Single nucleotide variant (synonymous variant)	PRKAA2-related disorder	GLikely benign
Select item 2274820	NM_006252.4(PRKAA2):c.1595T>G (p.Leu532Arg)	PRKAA2 (L532R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622772	NM_006252.4(PRKAA2):c.1645A>G (p.Thr549Ala)	PRKAA2 (T549A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809001	GRCh37/hg19 1p32.2-32.1(chr1:57137390-59037566)x3	C8A, C8B +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527004	GRCh37/hg19 1p32.2(chr1:56897995-57698341)	C8A, C8B +4 more	Copy number gain	not specified	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 814084	GRCh37/hg19 1p32.2(chr1:56844621-58438748)x1	PLPP3, C8A +4 more	Copy number loss	not provided	GUncertain significance
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

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Items: 41