ClinVar for Gene (Select 84167) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3144298	NM_006387.6(CHERP):c.2626G>A (p.Val876Ile)	C19orf44, CHERP (V876I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144296	NM_006387.6(CHERP):c.2285G>A (p.Gly762Asp)	C19orf44, CHERP (G762D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144295	NM_006387.6(CHERP):c.2177G>A (p.Arg726Lys)	C19orf44, CHERP (R726K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135676	NM_032207.4(C19orf44):c.502G>A (p.Ala168Thr)	C19orf44 (A168T)	Single nucleotide variant (missense variant)	not specified	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 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2649511	NM_006387.6(CHERP):c.2289G>A (p.Ser763=)	C19orf44, CHERP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2593327	NM_006387.6(CHERP):c.2492C>T (p.Ala831Val)	C19orf44, CHERP (A831V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	SLC1A6, RAB8A +57 more	Deletion	not provided	GUncertain significance
Select item 2411989	NM_032207.4(C19orf44):c.623T>G (p.Phe208Cys)	C19orf44 (F208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402241	NM_006387.6(CHERP):c.2441G>A (p.Arg814Gln)	C19orf44, CHERP (R814Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394559	NM_032207.4(C19orf44):c.34C>T (p.Arg12Cys)	C19orf44 (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375444	NM_032207.4(C19orf44):c.853G>A (p.Ala285Thr)	C19orf44 (A285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359260	NM_006387.6(CHERP):c.2378G>A (p.Arg793His)	C19orf44, CHERP (R793H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345757	NM_006387.6(CHERP):c.2362C>T (p.Arg788Cys)	C19orf44, CHERP (R788C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260071	NM_032207.4(C19orf44):c.379C>G (p.Leu127Val)	C19orf44 (L127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250270	NM_032207.4(C19orf44):c.1837G>A (p.Ala613Thr)	C19orf44 (A581T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238687	NM_032207.4(C19orf44):c.443A>G (p.Asp148Gly)	C19orf44 (D148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215456	NM_006387.6(CHERP):c.2440C>T (p.Arg814Trp)	C19orf44, CHERP (R814W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1278372	NM_032207.4(C19orf44):c.-45G>C	C19orf44, CALR3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1243272	NM_032207.4(C19orf44):c.-2+29A>G	C19orf44, CALR3	Single nucleotide variant (intron variant)	not provided	GBenign
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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
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 393730	GRCh37/hg19 19p13.11(chr19:16595960-16617485)x3	C19orf44, CALR3	Copy number gain	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
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 58339	GRCh38/hg38 19p13.11(chr19:16485144-16672218)x1	C19orf44, CALR3 +24 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 33