CN239282[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206049	NM_001378120.1(MBD5):c.-831+9dup	MBD5	Duplication (intron variant)	Intellectual Disability, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 331323	NM_001378120.1(MBD5):c.-591dup	MBD5	Duplication (5 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 331332	NM_001378120.1(MBD5):c.932A>C (p.Lys311Thr)	MBD5 (K311T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 206068	NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)	MBD5 (Q371E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 279846	NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile)	MBD5 (V1085I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 331348	NM_001378120.1(MBD5):c.5131G>A (p.Gly1711Ser)	MBD5 (G1478S +1 more)	Single nucleotide variant (missense variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 331349	NM_001378120.1(MBD5):c.*162dup	MBD5	Duplication (3 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 335230	NM_001244008.2(KIF1A):c.*1972del	KIF1A	Deletion (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +2 more	GUncertain significance
Select item 335248	NM_001244008.2(KIF1A):c.*249dup	KIF1A	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +2 more	GUncertain significance
Select item 335254	NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 208649	NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)	KIF1A (T1122M +8 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 335286	NM_001244008.2(KIF1A):c.75G>C (p.Lys25Asn)	KIF1A (K25N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GUncertain significance
Select item 307713	NM_000834.5(GRIN2B):c.*1230G>C	GRIN2B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 307726	NM_000834.5(GRIN2B):c.*293G>A	GRIN2B	Single nucleotide variant (3 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 307729	NM_000834.5(GRIN2B):c.*232T>C	GRIN2B	Single nucleotide variant (3 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 307733	NM_000834.5(GRIN2B):c.110_113del	GRIN2B	Deletion (3 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 307735	NM_000834.5(GRIN2B):c.25_28del	GRIN2B	Deletion (3 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 307755	NM_000834.5(GRIN2B):c.-9G>T	GRIN2B	Single nucleotide variant (5 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 312632	NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 312645	NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Intellectual Disability, Dominant +3 more	GConflicting classifications of pathogenicity

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Items: 20