C0026827[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523269	GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	CCDC27, MIR200B +79 more	Copy number loss	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 523278	GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855)	ARL8B, BHLHE40 +12 more	Copy number loss	Hypotonia +2 more	GLikely pathogenic
Select item 978556	NM_001127671.2(LIFR):c.1886-9T>A	LIFR	Single nucleotide variant (intron variant)	Absent speech +5 more	GUncertain significance
Select item 523526	NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs)	TNXB (V2117fs)	Deletion (frameshift variant)	Cyanosis +6 more	GUncertain significance
Select item 523525	NM_001365276.2(TNXB):c.5052C>A (p.Asp1684Glu)	TNXB (D1684E)	Single nucleotide variant (missense variant)	Cyanosis +7 more	GUncertain significance
Select item 523303	GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3	ARID1B, TMEM242 +1 more	Copy number gain	Hypotonia +7 more	GUncertain significance
Select item 279809	NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	FKBP14, FKBP14-AS1 (E122fs)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 224142	NM_004408.4(DNM1):c.139G>A (p.Val47Met)	DNM1, CIZ1 (V47M)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 523340	NM_000257.4(MYH7):c.5746C>T (p.Gln1916Ter)	MYH7 (Q1916*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 373929	NM_001376.5(DYNC1H1):c.1802T>A (p.Ile601Asn)	DYNC1H1 (I601N)	Single nucleotide variant (missense variant)	Polymicrogyria +3 more	GLikely pathogenic
Select item 1393	NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	MKS1 (C492W +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +9 more	GConflicting classifications of pathogenicity
Select item 523519	NM_017777.4(MKS1):c.1166-2A>C	MKS1	Single nucleotide variant (splice acceptor variant)	Polydactyly +2 more	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 374087	NM_001429.4(EP300):c.2053+4A>T	EP300	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 2 +7 more	GUncertain significance
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 523498	NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)	KIF4A (R518P)	Single nucleotide variant (missense variant)	Generalized hypotonia +9 more	GUncertain significance
Select item 373939	NM_002025.4(AFF2):c.3209A>G (p.His1070Arg)	AFF2 (H1070R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +6 more	GUncertain significance