26638[HGNC] - ClinVar

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Items: 28

	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 2384576	NM_175871.4(SWSAP1):c.91C>G (p.Leu31Val)	SWSAP1 (L31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366195	NM_175871.4(SWSAP1):c.107G>T (p.Gly36Val)	SWSAP1 (G36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566916	NM_175871.4(SWSAP1):c.165A>C (p.Gln55His)	SWSAP1 (Q55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323789	NM_175871.4(SWSAP1):c.188G>A (p.Arg63Gln)	SWSAP1 (R63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321045	NM_175871.4(SWSAP1):c.313G>A (p.Glu105Lys)	SWSAP1 (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323791	NM_175871.4(SWSAP1):c.425C>A (p.Thr142Lys)	SWSAP1 (T142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282425	NM_175871.4(SWSAP1):c.444C>A (p.His148Gln)	SWSAP1 (H148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323788	NM_175871.4(SWSAP1):c.455C>A (p.Pro152His)	SWSAP1 (P152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323790	NM_175871.4(SWSAP1):c.510T>G (p.Ser170Arg)	SWSAP1 (S170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296441	NM_175871.4(SWSAP1):c.604C>G (p.Arg202Gly)	SWSAP1 (R202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611377	NM_175871.4(SWSAP1):c.685G>A (p.Ala229Thr)	SWSAP1 (A229T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248812	NM_175871.4(SWSAP1):c.704C>G (p.Ala235Gly)	SWSAP1 (A235G)	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 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: 28