30725[HGNC] - ClinVar

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Items: 29

	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 2594151	NM_001282509.2(TSPAN16):c.20C>T (p.Pro7Leu)	TSPAN16 (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183808	NM_001282509.2(TSPAN16):c.26C>T (p.Ser9Phe)	TSPAN16 (S9F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484603	NM_001282509.2(TSPAN16):c.64G>A (p.Val22Met)	TSPAN16 (V22M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480411	NM_001282509.2(TSPAN16):c.74C>T (p.Ser25Phe)	TSPAN16 (S25F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347063	NM_001282509.2(TSPAN16):c.79A>G (p.Ile27Val)	TSPAN16 (I27V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2477801	NM_001282509.2(TSPAN16):c.100A>G (p.Ile34Val)	TSPAN16 (I34V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410454	NM_001282509.2(TSPAN16):c.257C>A (p.Thr86Lys)	TSPAN16 (T86K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221265	NM_001282509.2(TSPAN16):c.373G>A (p.Val125Met)	HSPC102, TSPAN16 (V125M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183810	NM_001282509.2(TSPAN16):c.377C>T (p.Thr126Ile)	HSPC102, TSPAN16 (T101I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2330810	NM_001282509.2(TSPAN16):c.406G>A (p.Glu136Lys)	HSPC102, TSPAN16 (E111K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244558	NM_001282509.2(TSPAN16):c.671G>A (p.Gly224Glu)	HSPC102, TSPAN16 (G199E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494515	NM_004283.4(RAB3D):c.561G>A (p.Met187Ile)	RAB3D, TSPAN16 (M187I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515527	NM_004283.4(RAB3D):c.532C>T (p.Arg178Cys)	RAB3D, TSPAN16 (R178C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312153	NM_004283.4(RAB3D):c.529G>A (p.Glu177Lys)	RAB3D, TSPAN16 (E177K)	Single nucleotide variant (missense variant +1 more)	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 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: 29