CAPS[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 3042361	NM_004058.4(CAPS):c.-7G>A	CAPS	Single nucleotide variant	CAPS-related disorder	GLikely benign
Select item 3043112	NM_004058.4(CAPS):c.54G>A (p.Leu18=)	CAPS	Single nucleotide variant (synonymous variant)	CAPS-related disorder	GLikely benign
Select item 3137241	NM_004058.5(CAPS):c.10G>A (p.Val4Met)	CAPS (V4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263266	NM_004058.5(CAPS):c.34C>T (p.Arg12Trp)	CAPS (R12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405819	NM_004058.5(CAPS):c.50C>A (p.Ser17Tyr)	CAPS (S17Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781743	NM_004058.5(CAPS):c.53G>A (p.Arg18His)	CAPS (R18H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3137247	NM_004058.5(CAPS):c.55G>C (p.Gly19Arg)	CAPS (G19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342223	NM_004058.5(CAPS):c.62C>T (p.Ser21Leu)	CAPS (S21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263267	NM_004058.5(CAPS):c.68T>C (p.Ile23Thr)	CAPS (I23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358060	NM_004058.5(CAPS):c.101A>G (p.Asp34Gly)	CAPS (D34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382169	NM_004058.5(CAPS):c.127G>A (p.Ala43Thr)	CAPS (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379335	NM_004058.5(CAPS):c.140G>A (p.Arg47Gln)	CAPS (R47Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3043545	NM_004058.5(CAPS):c.160G>A (p.Gly54Arg)	CAPS (G54R)	Single nucleotide variant (missense variant)	CAPS-related disorder	GBenign
Select item 3137242	NM_004058.5(CAPS):c.208G>A (p.Asp70Asn)	CAPS (D70N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515121	NM_004058.5(CAPS):c.211C>G (p.Arg71Gly)	CAPS (R71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234407	NM_004058.5(CAPS):c.211C>T (p.Arg71Cys)	CAPS (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137243	NM_004058.5(CAPS):c.218G>A (p.Gly73Asp)	CAPS (G73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597173	NM_004058.5(CAPS):c.227C>T (p.Thr76Met)	CAPS (T76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137245	NM_004058.5(CAPS):c.234T>A (p.Asp78Glu)	CAPS (D78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305787	NM_004058.5(CAPS):c.259C>T (p.Arg87Trp)	CAPS (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769950	NM_004058.5(CAPS):c.262C>A (p.Pro88Thr)	CAPS (P88T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2489615	NM_004058.5(CAPS):c.280C>G (p.Arg94Gly)	CAPS (R94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486677	NM_004058.5(CAPS):c.293T>A (p.Ile98Asn)	CAPS (I98N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231570	NM_004058.5(CAPS):c.320G>A (p.Arg107His)	CAPS (R107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368072	NM_004058.5(CAPS):c.341C>T (p.Thr114Met)	CAPS (T114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325386	NM_004058.5(CAPS):c.355C>T (p.Arg119Cys)	CAPS (R119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219247	NM_004058.5(CAPS):c.391C>A (p.Arg131Ser)	CAPS (R131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467270	NM_004058.5(CAPS):c.394A>C (p.Ser132Arg)	CAPS (S132R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137246	NM_004058.5(CAPS):c.415G>A (p.Glu139Lys)	CAPS (E139K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2280702	NM_004058.5(CAPS):c.424C>T (p.Arg142Cys)	CAPS (R142C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556331	NM_004058.5(CAPS):c.428G>A (p.Arg143His)	CAPS (R143H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525759	NM_004058.5(CAPS):c.524C>T (p.Thr175Met)	CAPS (T148M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046349	NM_004058.5(CAPS):c.*8C>T	CAPS	Single nucleotide variant (3 prime UTR variant)	CAPS-related disorder	GLikely benign
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 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

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Items: 42