CNN1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 3146521	NM_001299.6(CNN1):c.15C>G (p.His5Gln)	CNN1 (H5Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268151	NM_001299.6(CNN1):c.49G>A (p.Glu17Lys)	CNN1 (E17K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317811	NM_001299.6(CNN1):c.88C>T (p.Arg30Trp)	CNN1 (R30W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467167	NM_001299.6(CNN1):c.89G>A (p.Arg30Gln)	CNN1 (R30Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146520	NM_001299.6(CNN1):c.157G>T (p.Gly53Cys)	CNN1 (G3C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222790	NM_001299.6(CNN1):c.310G>A (p.Asp104Asn)	CNN1 (D104N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287961	NM_001299.6(CNN1):c.311A>T (p.Asp104Val)	CNN1 (D104V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377540	NM_001299.6(CNN1):c.313A>G (p.Ile105Val)	CNN1 (I105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146522	NM_001299.6(CNN1):c.410A>T (p.Lys137Met)	CNN1 (K87M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256640	NM_001299.6(CNN1):c.461C>A (p.Pro154Gln)	CNN1 (P104Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146523	NM_001299.6(CNN1):c.509C>A (p.Thr170Asn)	CNN1 (T120N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462797	NM_001299.6(CNN1):c.516G>C (p.Lys172Asn)	CNN1 (K172N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456350	NM_001299.6(CNN1):c.539C>T (p.Thr180Met)	CNN1 (T130M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146524	NM_001299.6(CNN1):c.553C>T (p.Arg185Trp)	CNN1 (R135W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394493	NM_001299.6(CNN1):c.554G>A (p.Arg185Gln)	CNN1 (R135Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226511	NM_001299.6(CNN1):c.556C>T (p.Arg186Cys)	CNN1 (R136C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649335	NM_001299.6(CNN1):c.564C>T (p.Leu188=)	CNN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265187	NM_001299.6(CNN1):c.725A>G (p.Asn242Ser)	CNN1 (N192S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469975	NM_001299.6(CNN1):c.727G>A (p.Val243Ile)	CNN1 (V193I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2305186	NM_001299.6(CNN1):c.734T>A (p.Leu245Gln)	CNN1 (L195Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214472	NM_001299.6(CNN1):c.770G>A (p.Gly257Asp)	CNN1 (G207D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146525	NM_001299.6(CNN1):c.803A>G (p.Tyr268Cys)	CNN1 (Y218C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520065	NM_001299.6(CNN1):c.865C>G (p.His289Asp)	CNN1 (H239D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333800	NM_001299.6(CNN1):c.880T>C (p.Tyr294His)	CNN1 (Y244H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 983187	GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1	ANGPTL8, C19orf38 +22 more	Copy number loss	See cases	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 43