25179[HGNC] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 3053068	NM_138454.2(NXNL1):c.*2C>A	NXNL1	Single nucleotide variant (3 prime UTR variant)	NXNL1-related disorder	GLikely benign
Select item 3203504	NM_138454.2(NXNL1):c.634T>C (p.Phe212Leu)	NXNL1 (F212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038328	NM_138454.2(NXNL1):c.618C>G (p.Gly206=)	NXNL1	Single nucleotide variant (synonymous variant)	NXNL1-related disorder	GLikely benign
Select item 2314620	NM_138454.2(NXNL1):c.601G>C (p.Gly201Arg)	NXNL1 (G201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049633	NM_138454.2(NXNL1):c.540_564dup (p.Glu189fs)	NXNL1 (E189fs)	Duplication (frameshift variant)	NXNL1-related disorder	GLikely benign
Select item 2346858	NM_138454.2(NXNL1):c.556T>C (p.Tyr186His)	NXNL1 (Y186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649540	NM_138454.2(NXNL1):c.533C>T (p.Thr178Ile)	NXNL1 (T178I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3203503	NM_138454.2(NXNL1):c.521C>T (p.Pro174Leu)	NXNL1 (P174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203502	NM_138454.2(NXNL1):c.491A>G (p.Gln164Arg)	NXNL1 (Q164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486336	NM_138454.2(NXNL1):c.417C>A (p.Asp139Glu)	NXNL1 (D139E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303276	NM_138454.2(NXNL1):c.415G>A (p.Asp139Asn)	NXNL1 (D139N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370984	NM_138454.2(NXNL1):c.406G>A (p.Asp136Asn)	NXNL1 (D136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531744	NM_138454.2(NXNL1):c.404G>C (p.Arg135Pro)	NXNL1 (R135P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037930	NM_138454.2(NXNL1):c.375G>T (p.Val125=)	NXNL1	Single nucleotide variant (synonymous variant)	NXNL1-related disorder	GLikely benign
Select item 2239022	NM_138454.2(NXNL1):c.370G>T (p.Val124Leu)	NXNL1 (V124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481439	NM_138454.2(NXNL1):c.353A>G (p.Glu118Gly)	NXNL1 (E118G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046487	NM_138454.2(NXNL1):c.327-4G>A	NXNL1	Single nucleotide variant (intron variant)	NXNL1-related disorder	GLikely benign
Select item 2649541	NM_138454.2(NXNL1):c.326+7A>C	NXNL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3203501	NM_138454.2(NXNL1):c.305C>T (p.Pro102Leu)	NXNL1 (P102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689630	NM_138454.2(NXNL1):c.275A>G (p.Lys92Arg)	NXNL1 (K92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649542	NM_138454.2(NXNL1):c.273C>G (p.Leu91=)	NXNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2360106	NM_138454.2(NXNL1):c.244T>C (p.Ser82Pro)	NXNL1 (S82P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203500	NM_138454.2(NXNL1):c.239A>T (p.Gln80Leu)	NXNL1 (Q80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301716	NM_138454.2(NXNL1):c.226G>A (p.Val76Met)	NXNL1 (V76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301717	NM_138454.2(NXNL1):c.196T>C (p.Tyr66His)	NXNL1 (Y66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386989	NM_138454.2(NXNL1):c.187G>A (p.Asp63Asn)	NXNL1 (D63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209683	NM_138454.2(NXNL1):c.179G>A (p.Arg60Gln)	NXNL1 (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203499	NM_138454.2(NXNL1):c.134C>G (p.Pro45Arg)	NXNL1 (P45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301715	NM_138454.2(NXNL1):c.124G>A (p.Gly42Arg)	NXNL1 (G42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034050	NM_138454.2(NXNL1):c.66G>A (p.Thr22=)	NXNL1	Single nucleotide variant (synonymous variant)	NXNL1-related disorder	GLikely benign
Select item 2634799	NM_138454.2(NXNL1):c.61G>C (p.Asp21His)	NXNL1 (D21H)	Single nucleotide variant (missense variant)	NXNL1-related disorder	GUncertain significance
Select item 2649543	NM_138454.2(NXNL1):c.46G>A (p.Asp16Asn)	NXNL1 (D16N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649544	NM_138454.2(NXNL1):c.36C>A (p.Arg12=)	NXNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301377	NM_138454.2(NXNL1):c.5C>A (p.Ala2Asp)	NXNL1 (A2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590892	NM_138454.2(NXNL1):c.4G>A (p.Ala2Thr)	NXNL1 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242729	NC_000019.9:g.(?_17448421)_(17571678_?)dup	BST2, GTPBP3 +4 more	Duplication	not provided	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
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 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253947	GRCh37/hg19 19p13.11(chr19:17514059-17899363)x3	NIBAN3, PGLS-DT +10 more	Copy number gain	See cases	GUncertain significance

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Items: 49