C0221358[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374077	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)	PLOD1 (W521* +1 more)	Single nucleotide variant (nonsense)	Narrow chest +18 more	GPathogenic
Select item 523271	GRCh37/hg19 1q41(chr1:215829463-219225857)	ESRRG, GPATCH2 +4 more	Copy number loss	Scoliosis +4 more	GPathogenic
Select item 523237	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Severe global developmental delay +7 more	GPathogenic
Select item 523423	NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)	SATB2 (R552fs)	Microsatellite (frameshift variant)	not provided +6 more	GPathogenic
Select item 523276	GRCh37/hg19 2p15(chr2:61576332-62775261)	B3GNT2, CCT4 +5 more	Copy number gain	Dolichocephaly +3 more	GUncertain significance
Select item 374090	NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)	CHD7 (Q2298*)	Single nucleotide variant (nonsense +1 more)	Dolichocephaly +5 more	GPathogenic
Select item 373981	NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile)	FBN1 (N2267I)	Single nucleotide variant (missense variant)	Dolichocephaly +6 more	GPathogenic
Select item 200029	NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)	FBN1 (G47S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 523475	NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter)	RPS6KA3 (Q508*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +7 more	GPathogenic
Select item 373975	NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)	NSDHL (L352V)	Single nucleotide variant (missense variant)	Child syndrome +1 more	GUncertain significance
Select item 523299	GRCh37/hg19 Xq27.2(chrX:140928436-141157267)	MAGEC1, MAGEC3	Copy number gain	Dolichocephaly +3 more	GUncertain significance