C4310794[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033298	NM_001127178.3(PIGG):c.23T>C (p.Phe8Ser)	PIGG (F8S)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1033709	NM_001127178.3(PIGG):c.305C>A (p.Ser102Tyr)	PIGG (S13Y +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 280494	NM_001127178.3(PIGG):c.342dup (p.Thr115fs)	PIGG (T26fs +1 more)	Duplication (frameshift variant +2 more)	Intellectual disability, autosomal recessive 53 +1 more	GPathogenic/Likely pathogenic
Select item 476349	NM_001127178.3(PIGG):c.422C>T (p.Ala141Val)	PIGG (A141V +2 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +2 more	GConflicting classifications of pathogenicity
Select item 1027681	NM_001127178.3(PIGG):c.589A>G (p.Arg197Gly)	PIGG (R197G +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 575404	NM_001127178.3(PIGG):c.712G>A (p.Glu238Lys)	PIGG (E238K +2 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GUncertain significance
Select item 476351	NM_001127178.3(PIGG):c.724G>A (p.Val242Met)	PIGG (V242M +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 576651	NM_001127178.3(PIGG):c.846C>A (p.Thr282=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GConflicting classifications of pathogenicity
Select item 1033710	NM_001127178.3(PIGG):c.908T>C (p.Ile303Thr)	PIGG (I170T +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 807654	NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter)	PIGG (R215* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 542899	NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn)	PIGG (S333N +3 more)	Single nucleotide variant (missense variant +2 more)	PIGG-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1033296	NM_001127178.3(PIGG):c.1106_1107del (p.Ser368_Tyr369insTer)	PIGG	Microsatellite (nonsense +2 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 542892	NM_001127178.3(PIGG):c.1210C>G (p.Leu404Val)	PIGG (L404V +5 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 759571	NM_001127178.3(PIGG):c.1428T>C (p.Phe476=)	PIGG (F339S)	Single nucleotide variant (synonymous variant +4 more)	Intellectual disability, autosomal recessive 53	GConflicting classifications of pathogenicity
Select item 476318	NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)	PIGG (W505* +6 more)	Single nucleotide variant (nonsense +3 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 542901	NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser)	PIGG (G685S +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 53 +2 more	GConflicting classifications of pathogenicity
Select item 1007351	NM_001127178.3(PIGG):c.2059T>C (p.Trp687Arg)	PIGG (W176R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 476330	NM_001127178.3(PIGG):c.2086G>A (p.Glu696Lys)	PIGG (E696K +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 476335	NM_001127178.3(PIGG):c.2207C>T (p.Ala736Val)	PIGG (A736V +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1033297	NM_001127178.3(PIGG):c.2240C>T (p.Pro747Leu)	PIGG (P236L +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 999160	NM_001127178.3(PIGG):c.2536C>T (p.His846Tyr)	PIGG (H335Y +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 53 +1 more	GUncertain significance
Select item 420935	NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)	PIGG (Q851P +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 53 +1 more	GConflicting classifications of pathogenicity
Select item 570517	NM_001127178.3(PIGG):c.2576A>G (p.Asn859Ser)	PIGG (N859S +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 476342	NM_001127178.3(PIGG):c.2798C>T (p.Thr933Met)	PIGG (T933M +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 1033708	NM_001127178.3(PIGG):c.2872G>T (p.Glu958Ter)	PIGG (E447* +7 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 53	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25