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

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715283	NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys)	MYO19, PIGW (S178C)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GConflicting classifications of pathogenicity
Select item 445616	NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter)	MYO19, PIGW (R216*)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1031308	NM_001346754.2(PIGW):c.1259A>C (p.Asn420Thr)	MYO19, PIGW (N420T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1031309	NM_001346754.2(PIGW):c.1321_1324del (p.Ile441fs)	MYO19, PIGW (I441fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely pathogenic
Select item 625732	GRCh37/hg19 17q12(chr17:34437475-36214026)	AATF, ACACA +20 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625689	GRCh37/hg19 17q12(chr17:34819191-36194230)	AATF, ACACA +13 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 625680	GRCh37/hg19 17q12(chr17:34842059-36214026)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625651	GRCh37/hg19 17q12(chr17:34819191-36104803)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625612	GRCh37/hg19 17q12(chr17:34848678-36194230)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 209211	NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del	CCL4L1, CCL4L2 +26 more	Deletion	Chromosome 17q12 deletion syndrome	GPathogenic