ClinVar for Gene (Select 29108) - ClinVar

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Links from Gene

Items: 22

	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 2526877	NM_013258.5(PYCARD):c.470G>A (p.Ser157Asn)	PYCARD (S157N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272636	NM_013258.5(PYCARD):c.370G>C (p.Ala124Pro)	PYCARD (A105P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809296	GRCh37/hg19 16p11.2(chr16:31187744-31334923)x1	FUS, ITGAM +3 more	Copy number loss	not provided	GUncertain significance
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 782138	NM_013258.5(PYCARD):c.408G>A (p.Leu136=)	PYCARD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746728	NM_013258.5(PYCARD):c.342T>C (p.Phe114=)	PYCARD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443161	GRCh37/hg19 16p11.2(chr16:31198100-31407832)x3	FUS, ITGAD +5 more	Copy number gain	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221519	GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3	AHSP, ARMC5 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	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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Links from Gene

Items: 22