3541[HGNC] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 156742	NC_000001.11:g.94401500_94669347dup	LOC129930978, ABCD3 +5 more	Duplication	Normal pregnancy	Gnot provided
Select item 59364	GRCh38/hg38 1p21.3(chr1:94471888-94588229)x1	ABCD3, F3 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2454451	NM_001993.5(F3):c.871C>T (p.Pro291Ser)	F3 (P291S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 791607	NM_001993.5(F3):c.842G>A (p.Gly281Glu)	F3 (E228K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2383660	NM_001993.5(F3):c.814A>G (p.Ile272Val)	F3 (I272V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2268370	NM_001993.5(F3):c.793A>G (p.Ile265Val)	F3 (I265V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3276967	NM_001993.5(F3):c.766A>G (p.Ile256Val)	F3 (I256V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3276968	NM_001993.5(F3):c.754A>C (p.Ile252Leu)	F3 (K198N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276966	NM_001993.5(F3):c.695G>A (p.Arg232Gln)	F3 (R232Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2280838	NM_001993.5(F3):c.586G>A (p.Gly196Arg)	F3 (G196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242137	NM_001993.5(F3):c.526C>T (p.Arg176Trp)	F3 (R176W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091453	NM_001993.5(F3):c.522C>G (p.Ser174Arg)	F3 (S174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638933	NM_001993.5(F3):c.515T>C (p.Phe172Ser)	F3 (F172S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692099	NM_001993.5(F3):c.506A>G (p.Asn169Ser)	F3 (N169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708858	NM_001993.5(F3):c.487C>T (p.Arg163Trp)	F3 (R163W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3091451	NM_001993.5(F3):c.365G>A (p.Gly122Glu)	F3 (G122E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1341320	NM_001993.5(F3):c.349_350del (p.Ser117fs)	F3 (S117fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3091450	NM_001993.5(F3):c.305C>T (p.Thr102Met)	F3 (T102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715332	NM_001993.5(F3):c.278A>G (p.Asp93Gly)	F3 (D93G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789150	NM_001993.5(F3):c.160A>G (p.Ile54Val)	F3 (I54V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 727908	NM_001993.5(F3):c.118G>A (p.Ala40Thr)	F3 (A40T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717135	NM_001993.5(F3):c.106A>G (p.Thr36Ala)	F3 (T36A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3091455	NM_001993.5(F3):c.88G>A (p.Ala30Thr)	F3 (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091452	NM_001993.5(F3):c.49G>A (p.Ala17Thr)	F3 (A17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091449	NM_001993.5(F3):c.22C>T (p.Arg8Trp)	F3 (R8W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 1073069	NC_000001.10:g.(?_94458793)_(95538454_?)del	CNN3, ABCA4 +5 more	Deletion	not provided	GPathogenic
Select item 814108	GRCh37/hg19 1p22.1-21.3(chr1:93863518-96108930)x1	ABCA4, ABCD3 +11 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 565127	GRCh37/hg19 1p21.3(chr1:95000754-95323325)x3	SLC44A3, F3	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	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

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Items: 34