"Baylor Genetics"[submitter] AND "APC2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028957	NM_005883.3(APC2):c.583C>T (p.Arg195Cys)	APC2 (R195C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74	GUncertain significance
Select item 1033037	NM_005883.3(APC2):c.757C>T (p.Pro253Ser)	APC2 (P252S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74	GUncertain significance
Select item 1033038	NM_005883.3(APC2):c.796C>A (p.Pro266Thr)	APC2 (P266T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74 +2 more	GUncertain significance
Select item 2251001	NM_005883.3(APC2):c.1796G>A (p.Ser599Asn)	APC2 (S598N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2441668	NM_005883.3(APC2):c.3241C>G (p.Arg1081Gly)	APC2 (R1080G +1 more)	Single nucleotide variant (missense variant)	Cortical dysplasia, complex, with other brain malformations 10	GUncertain significance
Select item 1028956	NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro)	APC2 (R1539P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74 +2 more	GUncertain significance
Select item 1033035	NM_005883.3(APC2):c.5772G>C (p.Gln1924His)	APC2, LOC130062956 (Q1923H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 74	GUncertain significance
Select item 1033036	NM_005883.3(APC2):c.6111C>T (p.Phe2037=)	APC2	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder, autosomal recessive 74	GUncertain significance