ClinVar for Gene (Select 100652740) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150155	NM_013258.5(PYCARD):c.28G>A (p.Asp10Asn)	PYCARD, PYCARD-AS1 (D10N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150154	NM_013258.5(PYCARD):c.173G>A (p.Ser58Asn)	LOC130058897, PYCARD +1 more (S58N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic

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