CHERP[gene] - ClinVar

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Items: 56

	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 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	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 58339	GRCh38/hg38 19p13.11(chr19:16485144-16672218)x1	C19orf44, CALR3 +24 more	Copy number loss	See cases	GUncertain significance
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 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 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 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 2359260	NM_006387.6(CHERP):c.2378G>A (p.Arg793His)	C19orf44, CHERP (R793H)	Single nucleotide variant (missense variant +1 more)	not specified	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 3266979	NM_006387.6(CHERP):c.2332C>T (p.Arg778Cys)	C19orf44, CHERP (R778C)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 3266982	NM_006387.6(CHERP):c.2183G>T (p.Gly728Val)	C19orf44, CHERP (G728V)	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 3144294	NM_006387.6(CHERP):c.1847C>T (p.Pro616Leu)	CHERP (P616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476580	NM_006387.6(CHERP):c.1714G>A (p.Asp572Asn)	CHERP (D572N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266980	NM_006387.6(CHERP):c.1709G>A (p.Arg570His)	CHERP (R570H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317663	NM_006387.6(CHERP):c.1697C>T (p.Pro566Leu)	CHERP (P566L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245310	NM_006387.6(CHERP):c.1682C>A (p.Pro561His)	CHERP (P561H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319402	NM_006387.6(CHERP):c.1619A>T (p.His540Leu)	CHERP (H540L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649512	NM_006387.6(CHERP):c.1617G>A (p.Pro539=)	CHERP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3144292	NM_006387.6(CHERP):c.1607A>G (p.Asn536Ser)	CHERP (N536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266978	NM_006387.6(CHERP):c.1534C>T (p.Pro512Ser)	CHERP (P512S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226330	NM_006387.6(CHERP):c.1402G>A (p.Gly468Ser)	CHERP (G468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232579	NM_006387.6(CHERP):c.1235A>C (p.Asp412Ala)	CHERP (D412A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279416	NM_006387.6(CHERP):c.1234G>A (p.Asp412Asn)	CHERP (D412N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485554	NM_006387.6(CHERP):c.1199C>T (p.Pro400Leu)	CHERP (P400L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582969	NM_006387.6(CHERP):c.1185A>T (p.Gly395=)	CHERP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2556007	NM_006387.6(CHERP):c.1172A>G (p.Tyr391Cys)	CHERP (Y391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259867	NM_006387.6(CHERP):c.1100C>A (p.Ala367Asp)	CHERP (A367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266977	NM_006387.6(CHERP):c.1096C>T (p.Pro366Ser)	CHERP (P366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368186	NM_006387.6(CHERP):c.1085C>T (p.Pro362Leu)	CHERP (P362L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477503	NM_006387.6(CHERP):c.1008A>C (p.Gln336His)	CHERP (Q336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403076	NM_006387.6(CHERP):c.916G>A (p.Val306Met)	CHERP (V306M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649513	NM_006387.6(CHERP):c.780C>T (p.Ile260=)	CHERP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455786	NM_006387.6(CHERP):c.563C>T (p.Pro188Leu)	CHERP (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205892	NM_006387.6(CHERP):c.548A>G (p.Asn183Ser)	CHERP (N183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262053	NM_006387.6(CHERP):c.469T>C (p.Phe157Leu)	CHERP (F157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217936	NM_006387.6(CHERP):c.304G>A (p.Ala102Thr)	CHERP (A102T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144299	NM_006387.6(CHERP):c.290C>T (p.Pro97Leu)	CHERP (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372383	NM_006387.6(CHERP):c.277G>A (p.Ala93Thr)	CHERP (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266976	NM_006387.6(CHERP):c.256C>A (p.Pro86Thr)	CHERP (P86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266981	NM_006387.6(CHERP):c.212A>G (p.Gln71Arg)	CHERP (Q71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144293	NM_006387.6(CHERP):c.182C>T (p.Ala61Val)	CHERP (A61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144297	NM_006387.6(CHERP):c.23A>G (p.Asp8Gly)	CHERP (D8G)	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 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	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 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

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Items: 56