ClinVar for MedGen (Select 863720) - ClinVar

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

Links from MedGen

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064174	NM_001543.5(NDST1):c.985C>T (p.Arg329Cys)	NDST1 (R329C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2689547	NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr)	NDST1 (A758T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2689546	NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln)	NDST1 (R688Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2408522	NM_001543.5(NDST1):c.2623C>T (p.Arg875Ter)	NDST1 (R875* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 46 +1 more	GUncertain significance
Select item 1321865	NM_001543.5(NDST1):c.1846+23G>C	NDST1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 46	GBenign
Select item 1321864	NM_001543.5(NDST1):c.1097-28T>C	NDST1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 46	GBenign
Select item 1302757	NM_001543.5(NDST1):c.750A>G (p.Pro250=)	NDST1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 46 +1 more	GBenign
Select item 1302756	NM_001543.5(NDST1):c.681T>G (p.Val227=)	NDST1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 46 +1 more	GBenign
Select item 1267932	NM_001543.5(NDST1):c.1662G>C (p.Thr554=)	NDST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1032751	NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala)	NDST1 (G823A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 1027938	NM_001543.5(NDST1):c.389G>A (p.Arg130His)	NDST1 (R130H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 1027937	NM_001543.5(NDST1):c.388C>T (p.Arg130Cys)	NDST1 (R130C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 717699	NM_001543.5(NDST1):c.927A>G (p.Pro309=)	NDST1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 46 +1 more	GBenign/Likely benign
Select item 547990	NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys)	NDST1 (R454C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 547959	NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser)	NDST1 (T801S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 520649	NM_001543.5(NDST1):c.334C>T (p.Arg112Cys)	NDST1 (R112C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 452070	NM_001543.5(NDST1):c.39C>G (p.His13Gln)	NDST1 (H13Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46 +1 more	GUncertain significance
Select item 444669	NM_001543.5(NDST1):c.1690G>C (p.Val564Leu)	NDST1 (V564L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 435960	NM_001543.5(NDST1):c.730C>T (p.Arg244Cys)	NDST1 (R244C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 435943	NM_001543.5(NDST1):c.239G>A (p.Arg80His)	NDST1 (R80H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 426984	NM_001543.5(NDST1):c.883G>A (p.Val295Met)	NDST1 (V295M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46 +1 more	GUncertain significance
Select item 225420	NM_001543.5(NDST1):c.340G>T (p.Glu114Ter)	NDST1 (E114*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 161412	NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)	NDST1 (G611S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 161411	NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)	NDST1 (F640L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GLikely pathogenic
Select item 161410	NM_001543.5(NDST1):c.1926G>T (p.Glu642Asp)	NDST1 (E642D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GPathogenic
Select item 161409	NM_001543.5(NDST1):c.2126G>A (p.Arg709Gln)	NDST1 (R709Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 26