ClinVar for MedGen (Select 65142) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 915989	GRCh37/hg19 14q13.2(chr14:35546356-35546423)	FAM177A1	Copy number loss	Mild obesity +3 more	GUncertain significance
Select item 691885	NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)	EFEMP1 (Y205*)	Single nucleotide variant (nonsense)	Dural ectasia +13 more	GPathogenic
Select item 691884	NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs)	EFEMP1 (M107fs)	Deletion (frameshift variant)	Dural ectasia +13 more	GPathogenic
Select item 562127	GRCh38/hg38 9p23-22.3(chr9:13974416-14286260)x1	LOC124225049, NFIB	Copy number loss	Dolichocephaly +1 more	GPathogenic
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 523423	NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)	SATB2 (R552fs)	Microsatellite (frameshift variant)	Cleft palate +6 more	GPathogenic
Select item 523299	GRCh37/hg19 Xq27.2(chrX:140928436-141157267)	MAGEC1, MAGEC3	Copy number gain	Dolichocephaly +3 more	GUncertain significance
Select item 523276	GRCh37/hg19 2p15(chr2:61576332-62775261)	B3GNT2, CCT4 +5 more	Copy number gain	Dolichocephaly +3 more	GUncertain significance
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 374090	NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)	CHD7 (Q2298*)	Single nucleotide variant (nonsense +1 more)	Dolichocephaly +5 more	GPathogenic
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 373981	NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile)	FBN1 (N2267I)	Single nucleotide variant (missense variant)	Dolichocephaly +6 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 268016	46;XY;inv(1)(p22.3p34.1)dn		Inversion	Hypertelorism +8 more	GPathogenic
Select item 268009	46;X;t(X;3)(p21.3;p25.1)dn		Translocation	Dolichocephaly +11 more	GPathogenic
Select item 268007	46;XX;t(5;17)(p15.31~32;q25.3)dn		Translocation	Hypotonia +10 more	GUncertain significance
Select item 267837	46;XY;t(7;13)(p15.3;q14.1)dn		Translocation	Synophrys +11 more	GPathogenic
Select item 267797	46;XX;inv(2)(p11q13)dn		Inversion	Prominent forehead +9 more	GUncertain significance
Select item 200029	NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)	FBN1 (G47S)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity
Select item 183348	NM_173607.5(FAM177A1):c.366dup (p.Trp123fs)	FAM177A1 (W123fs +1 more)	Duplication (frameshift variant)	Macrocephaly +3 more	GLikely pathogenic

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Items: 21