1338[HGNC] - ClinVar

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Items: 52

	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 769025	NM_001736.4(C5AR1):c.4= (p.Asp2=)	C5AR1	Variation (no sequence alteration)	not provided	GBenign
Select item 3136040	NM_001736.4(C5AR1):c.86C>A (p.Thr29Asn)	C5AR1 (T29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631913	NM_001736.4(C5AR1):c.100C>T (p.Arg34Cys)	C5AR1 (R34C)	Single nucleotide variant (missense variant)	C5AR1-related disorder	GUncertain significance
Select item 2347104	NM_001736.4(C5AR1):c.130T>C (p.Phe44Leu)	C5AR1 (F44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346890	NM_001736.4(C5AR1):c.155T>C (p.Val52Ala)	C5AR1 (V52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215426	NM_001736.4(C5AR1):c.235G>A (p.Ala79Thr)	C5AR1 (A79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136034	NM_001736.4(C5AR1):c.289G>A (p.Val97Ile)	C5AR1 (V97I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136035	NM_001736.4(C5AR1):c.295C>T (p.His99Tyr)	C5AR1 (H99Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204214	NM_001736.4(C5AR1):c.316G>A (p.Gly106Arg)	C5AR1 (G106R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 770810	NM_001736.4(C5AR1):c.450= (p.Ala150=)	C5AR1	Variation (no sequence alteration)	not provided	GBenign
Select item 2369843	NM_001736.4(C5AR1):c.490G>T (p.Ala164Ser)	C5AR1 (A164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388591	NM_001736.4(C5AR1):c.491C>A (p.Ala164Asp)	C5AR1 (A164D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633744	NM_001736.4(C5AR1):c.509C>A (p.Pro170His)	C5AR1 (P170H)	Single nucleotide variant (missense variant)	C5AR1-related disorder	GUncertain significance
Select item 3262527	NM_001736.4(C5AR1):c.523C>T (p.Arg175Trp)	C5AR1 (R175W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047971	NM_001736.4(C5AR1):c.532C>T (p.Arg178Trp)	C5AR1 (R178W)	Single nucleotide variant (missense variant)	C5AR1-related disorder	GUncertain significance
Select item 744644	NM_001736.4(C5AR1):c.537G>A (p.Glu179=)	C5AR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271407	NM_001736.4(C5AR1):c.553A>C (p.Lys185Gln)	C5AR1 (K185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136036	NM_001736.4(C5AR1):c.556G>T (p.Val186Leu)	C5AR1 (V186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770291	NM_001736.4(C5AR1):c.615C>G (p.Val205=)	C5AR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3262528	NM_001736.4(C5AR1):c.617G>C (p.Arg206Pro)	C5AR1 (R206P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718843	NM_001736.4(C5AR1):c.657G>A (p.Thr219=)	C5AR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3136037	NM_001736.4(C5AR1):c.682C>T (p.Arg228Trp)	C5AR1 (R228W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262529	NM_001736.4(C5AR1):c.683G>A (p.Arg228Gln)	C5AR1 (R228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136038	NM_001736.4(C5AR1):c.779T>G (p.Val260Gly)	C5AR1 (V260G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136039	NM_001736.4(C5AR1):c.812C>T (p.Ser271Leu)	C5AR1 (S271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051110	NM_001736.4(C5AR1):c.813G>A (p.Ser271=)	C5AR1	Single nucleotide variant (synonymous variant)	C5AR1-related disorder	GLikely benign
Select item 769026	NM_001736.4(C5AR1):c.837= (p.Lys279=)	C5AR1	Variation (no sequence alteration)	not provided	GBenign
Select item 2213719	NM_001736.4(C5AR1):c.846C>G (p.Asp282Glu)	C5AR1 (D282E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235352	NM_001736.4(C5AR1):c.901G>A (p.Val301Met)	C5AR1 (V301M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032551	NM_001736.4(C5AR1):c.936del (p.Lys313fs)	C5AR1 (K313fs)	Deletion (frameshift variant)	C5AR1-related disorder	GUncertain significance
Select item 2378676	NM_001736.4(C5AR1):c.943C>T (p.Leu315Phe)	C5AR1 (L315F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136041	NM_001736.4(C5AR1):c.978G>C (p.Glu326Asp)	C5AR1 (E326D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136033	NM_001736.4(C5AR1):c.1024A>G (p.Thr342Ala)	C5AR1 (T342A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593665	NM_001736.4(C5AR1):c.1048G>A (p.Val350Met)	C5AR1 (V350M)	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: 52