1790[HGNC] - ClinVar

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Items: 30

	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 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
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 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 2257651	NM_001800.4(CDKN2D):c.436G>A (p.Ala146Thr)	CDKN2D (A146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141672	NM_001800.4(CDKN2D):c.427T>G (p.Leu143Val)	CDKN2D (L143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470759	NM_001800.4(CDKN2D):c.382G>C (p.Ala128Pro)	CDKN2D (A128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496308	NM_001800.4(CDKN2D):c.319G>A (p.Gly107Arg)	CDKN2D (G107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141671	NM_001800.4(CDKN2D):c.304G>A (p.Val102Met)	CDKN2D (V102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271888	NM_001800.4(CDKN2D):c.169G>A (p.Ala57Thr)	CDKN2D (A57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141673	NM_001800.4(CDKN2D):c.67G>C (p.Glu23Gln)	CDKN2D (E23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338937	NM_001800.4(CDKN2D):c.58G>A (p.Asp20Asn)	CDKN2D, LOC130063517 (D20N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284335	NM_001800.4(CDKN2D):c.10G>A (p.Glu4Lys)	CDKN2D, LOC130063517 (E4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248458	NC_000019.9:g.(?_10461510)_(10941723_?)dup	AP1M2, ATG4D +12 more	Duplication	Immunodeficiency 35	GUncertain significance
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 2498798	GRCh37/hg19 19p13.2(chr19:10624491-10969019)x3	ILF3, AP1M2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1526655	GRCh37/hg19 19p13.2(chr19:10584393-10938252)	MIR199A1, SLC44A2 +9 more	Copy number gain	not specified	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 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816065	GRCh37/hg19 19p13.2(chr19:10632623-11135294)x3	AP1M2, QTRT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic

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Items: 30