CD177[gene] - ClinVar

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Items: 62

	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 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60276	GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3	CD177, ETHE1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 145905	GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3	CD177, ETHE1 +14 more	Copy number gain	See cases	GLikely benign
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	PHLDB3, PINLYP +55 more	Copy number gain	See cases	GUncertain significance
Select item 2548175	NM_020406.4(CD177):c.16C>G (p.Leu6Val)	CD177 (L6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307465	NM_020406.4(CD177):c.35T>A (p.Phe12Tyr)	CD177 (F12Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232119	NM_020406.4(CD177):c.128C>T (p.Thr43Ile)	CD177 (T43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363202	NM_020406.4(CD177):c.168G>C (p.Gln56His)	CD177 (Q56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140347	NM_020406.4(CD177):c.184A>T (p.Ile62Phe)	CD177 (I62F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264740	NM_020406.4(CD177):c.206G>A (p.Ser69Asn)	CD177 (S69N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528367	NM_020406.4(CD177):c.253C>A (p.Arg85Ser)	CD177 (R85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264743	NM_020406.4(CD177):c.333C>A (p.Asn111Lys)	CD177 (N111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388838	NM_020406.4(CD177):c.361G>A (p.Ala121Thr)	CD177 (A121T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2650060	NM_020406.4(CD177):c.380-1G>C	CD177	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2602514	NM_020406.4(CD177):c.385G>A (p.Gly129Arg)	CD177 (G129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327094	NM_020406.4(CD177):c.415A>G (p.Met139Val)	CD177 (M139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356200	NM_020406.4(CD177):c.500G>A (p.Gly167Glu)	CD177 (G167E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710859	NM_020406.4(CD177):c.622T>G (p.Phe208Val)	CD177 (F208V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777054	NM_020406.4(CD177):c.629C>T (p.Thr210Ile)	CD177 (T210I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2273632	NM_020406.4(CD177):c.638G>A (p.Arg213Gln)	CD177 (R213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140349	NM_020406.4(CD177):c.688T>A (p.Trp230Arg)	CD177 (W230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650061	NM_020406.4(CD177):c.699G>T (p.Ser233=)	CD177	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549487	NM_020406.4(CD177):c.713G>A (p.Cys238Tyr)	CD177 (C238Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211699	NM_020406.4(CD177):c.727G>C (p.Val243Leu)	CD177 (V243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279415	NM_020406.4(CD177):c.728T>C (p.Val243Ala)	CD177 (V243A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329403	NM_020406.4(CD177):c.798C>A (p.Ser266Arg)	CD177 (S266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650062	NM_020406.4(CD177):c.954T>C (p.Pro318=)	CD177	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612270	NM_020406.4(CD177):c.983G>T (p.Cys328Phe)	CD177 (C328F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140338	NM_020406.4(CD177):c.1001C>T (p.Thr334Ile)	CD177 (T334I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556336	NM_020406.4(CD177):c.1006T>A (p.Ser336Thr)	CD177 (S336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264741	NM_020406.4(CD177):c.1013G>T (p.Gly338Val)	CD177 (G338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140340	NM_020406.4(CD177):c.1030T>G (p.Cys344Gly)	CD177 (C344G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140341	NM_020406.4(CD177):c.1034C>T (p.Pro345Leu)	CD177 (P345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264739	NM_020406.4(CD177):c.1040G>A (p.Gly347Asp)	CD177 (G347D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785915	NM_020406.4(CD177):c.1090T>A (p.Ser364Thr)	CD177 (S364T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785916	NM_020406.4(CD177):c.1097A>G (p.Lys366Arg)	CD177 (K366R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2208545	NM_020406.4(CD177):c.1111G>A (p.Gly371Ser)	CD177 (G371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222693	NM_020406.4(CD177):c.1116C>G (p.Cys372Trp)	CD177 (C372W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492665	NM_020406.4(CD177):c.1140G>T (p.Leu380Phe)	CD177 (L380F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297909	NM_020406.4(CD177):c.1156C>A (p.Gln386Lys)	CD177 (Q386K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140342	NM_020406.4(CD177):c.1162G>A (p.Gly388Arg)	CD177 (G388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457137	NM_020406.4(CD177):c.1177C>T (p.Arg393Cys)	CD177 (R393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390796	NM_020406.4(CD177):c.1178G>A (p.Arg393His)	CD177 (R393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479702	NM_020406.4(CD177):c.1181A>G (p.Glu394Gly)	CD177 (E394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140344	NM_020406.4(CD177):c.1190A>T (p.Asp397Val)	CD177 (D397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140345	NM_020406.4(CD177):c.1238T>A (p.Leu413Gln)	CD177 (L413Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372301	NM_020406.4(CD177):c.1259T>G (p.Val420Gly)	CD177 (V420G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140346	NM_020406.4(CD177):c.1261G>A (p.Gly421Arg)	CD177 (G421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1246308	NM_020406.4(CD177):c.1291G>A (p.Gly431Arg)	CD177 (G431R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2518330	NM_020406.4(CD177):c.1295T>C (p.Val432Ala)	CD177 (V432A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808065	GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3	CD177, CEACAM8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1526666	GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076)	CD177, CEACAM8 +19 more	Copy number gain	not specified	GUncertain significance
Select item 980765	GRCh37/hg19 19q13.31(chr19:43834305-44004721)x1	CD177, LYPD3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687817	GRCh37/hg19 19q13.31(chr19:43818072-44100076)x3	CD177, ETHE1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685142	GRCh37/hg19 19q13.31(chr19:43803157-44105375)x3	CD177, ETHE1 +9 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 564583	GRCh37/hg19 19q13.31(chr19:43846269-44055858)x4	LYPD3, XRCC1 +6 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 394142	GRCh37/hg19 19q13.2-13.31(chr19:42891150-43922624)x3	CD177, CEACAM1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 62