C5AR2[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 149907	GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3	BICRA, BICRA-AS2 +45 more	Copy number gain	See cases	GLikely benign
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 770292	NM_001271749.2(C5AR2):c.51G>A (p.Ser17=)	C5AR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2362845	NM_001271749.2(C5AR2):c.56G>T (p.Arg19Leu)	C5AR2 (R19L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226689	NM_001271749.2(C5AR2):c.56G>A (p.Arg19His)	C5AR2 (R19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249490	NM_001271749.2(C5AR2):c.62T>G (p.Val21Gly)	C5AR2 (V21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589044	NM_001271749.2(C5AR2):c.98C>T (p.Pro33Leu)	C5AR2 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588623	NM_001271749.2(C5AR2):c.104G>A (p.Arg35His)	C5AR2 (R35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336086	NM_001271749.2(C5AR2):c.131C>T (p.Ala44Val)	C5AR2 (A44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535577	NM_001271749.2(C5AR2):c.142G>T (p.Val48Leu)	C5AR2 (V48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396510	NM_001271749.2(C5AR2):c.193C>T (p.Arg65Cys)	C5AR2 (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262904	NM_001271749.2(C5AR2):c.197G>A (p.Arg66Gln)	C5AR2 (R66Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403604	NM_001271749.2(C5AR2):c.202G>T (p.Val68Leu)	C5AR2 (V68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289165	NM_001271749.2(C5AR2):c.209C>T (p.Ala70Val)	C5AR2 (A70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136042	NM_001271749.2(C5AR2):c.225C>A (p.His75Gln)	C5AR2 (H75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262531	NM_001271749.2(C5AR2):c.232G>A (p.Val78Met)	C5AR2 (V78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319946	NM_001271749.2(C5AR2):c.283G>T (p.Ala95Ser)	C5AR2 (A95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136043	NM_001271749.2(C5AR2):c.286C>T (p.Arg96Cys)	C5AR2 (R96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136044	NM_001271749.2(C5AR2):c.302C>A (p.Pro101Gln)	C5AR2 (P101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597766	NM_001271749.2(C5AR2):c.364G>A (p.Val122Ile)	C5AR2 (V122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262532	NM_001271749.2(C5AR2):c.370C>T (p.Leu124Phe)	C5AR2 (L124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328841	NM_001271749.2(C5AR2):c.412G>A (p.Gly138Arg)	C5AR2 (G138R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384883	NM_001271749.2(C5AR2):c.431C>T (p.Thr144Met)	C5AR2 (T144M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343686	NM_001271749.2(C5AR2):c.439C>T (p.Arg147Trp)	C5AR2 (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136045	NM_001271749.2(C5AR2):c.448G>A (p.Gly150Arg)	C5AR2 (G150R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252613	NM_001271749.2(C5AR2):c.503C>T (p.Pro168Leu)	C5AR2 (P168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367869	NM_001271749.2(C5AR2):c.512T>C (p.Ile171Thr)	C5AR2 (I171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515328	NM_001271749.2(C5AR2):c.521G>A (p.Arg174Gln)	C5AR2 (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511139	NM_001271749.2(C5AR2):c.548G>A (p.Arg183Gln)	C5AR2 (R183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457303	NM_001271749.2(C5AR2):c.589G>A (p.Glu197Lys)	C5AR2 (E197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482155	NM_001271749.2(C5AR2):c.595G>A (p.Ala199Thr)	C5AR2 (A199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313032	NM_001271749.2(C5AR2):c.607A>C (p.Ile203Leu)	C5AR2 (I203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268679	NM_001271749.2(C5AR2):c.611G>C (p.Arg204Pro)	C5AR2 (R204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757515	NM_001271749.2(C5AR2):c.612G>A (p.Arg204=)	C5AR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494009	NM_001271749.2(C5AR2):c.656G>C (p.Cys219Ser)	C5AR2 (C219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775582	NM_001271749.2(C5AR2):c.664G>A (p.Ala222Thr)	C5AR2 (A222T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3136046	NM_001271749.2(C5AR2):c.686G>A (p.Arg229Gln)	C5AR2 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602425	NM_001271749.2(C5AR2):c.688C>T (p.Arg230Cys)	C5AR2 (R230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277344	NM_001271749.2(C5AR2):c.751C>A (p.Leu251Met)	C5AR2 (L251M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136047	NM_001271749.2(C5AR2):c.764T>C (p.Val255Ala)	C5AR2 (V255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593071	NM_001271749.2(C5AR2):c.812G>A (p.Arg271Gln)	C5AR2 (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557364	NM_001271749.2(C5AR2):c.841C>T (p.Leu281Phe)	C5AR2 (L281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777502	NM_001271749.2(C5AR2):c.843C>T (p.Leu281=)	C5AR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2343442	NM_001271749.2(C5AR2):c.844G>T (p.Ala282Ser)	C5AR2 (A282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343020	NM_001271749.2(C5AR2):c.863C>T (p.Pro288Leu)	C5AR2 (P288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283980	NM_001271749.2(C5AR2):c.872T>G (p.Phe291Cys)	C5AR2 (F291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717756	NM_001271749.2(C5AR2):c.895C>G (p.Leu299Val)	C5AR2 (L299V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2249007	NM_001271749.2(C5AR2):c.898C>T (p.Arg300Cys)	C5AR2 (R300C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136048	NM_001271749.2(C5AR2):c.944A>G (p.Gln315Arg)	C5AR2 (Q315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770293	NM_001271749.2(C5AR2):c.986A>G (p.His329Arg)	C5AR2 (H329R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2245710	NM_001271749.2(C5AR2):c.995T>C (p.Val332Ala)	C5AR2 (V332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262530	NM_001271749.2(C5AR2):c.1010T>C (p.Val337Ala)	C5AR2 (V337A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 816087	GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	ZNF541, EHD2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688284	GRCh37/hg19 19q13.32-13.33(chr19:47785567-48178258)x3	BICRA, C5AR1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 493602	GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3	AP2S1, ARHGAP35 +13 more	Copy number gain	not provided	GUncertain significance
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 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 394131	GRCh37/hg19 19q13.32(chr19:47567615-47856225)x3	BBC3, C5AR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 393971	GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3	ARHGAP35, BBC3 +9 more	Copy number gain	See cases	GLikely pathogenic

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Items: 68