PSG3[gene] - ClinVar

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Items: 77

	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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 3220233	NM_021016.4(PSG3):c.1276A>C (p.Asn426His)	PSG3 (N426H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616293	NM_021016.4(PSG3):c.1255A>G (p.Thr419Ala)	PSG3 (T419A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220232	NM_021016.4(PSG3):c.1208T>A (p.Met403Lys)	PSG3 (M403K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553543	NM_021016.4(PSG3):c.1199C>T (p.Ala400Val)	PSG3 (A400V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517860	NM_021016.4(PSG3):c.1190G>A (p.Arg397His)	PSG3 (R397H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354183	NM_021016.4(PSG3):c.1189C>T (p.Arg397Cys)	PSG3 (R397C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624139	NM_021016.4(PSG3):c.1187T>C (p.Val396Ala)	PSG3 (V396A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601311	NM_021016.4(PSG3):c.1085C>A (p.Ala362Glu)	PSG3 (A362E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611533	NM_021016.4(PSG3):c.1051T>G (p.Tyr351Asp)	PSG3 (Y351D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220247	NM_021016.4(PSG3):c.958C>T (p.Arg320Cys)	PSG3 (R320C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382266	NM_021016.4(PSG3):c.944G>A (p.Arg315Gln)	PSG3 (R315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490343	NM_021016.4(PSG3):c.928T>C (p.Cys310Arg)	PSG3 (C310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311918	NM_021016.4(PSG3):c.902C>G (p.Thr301Arg)	PSG3 (T301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406390	NM_021016.4(PSG3):c.892C>T (p.Pro298Ser)	PSG3 (P298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293665	NM_021016.4(PSG3):c.834G>C (p.Gln278His)	PSG3 (Q278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551761	NM_021016.4(PSG3):c.751C>A (p.Pro251Thr)	PSG3 (P251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220245	NM_021016.4(PSG3):c.740A>C (p.Asn247Thr)	PSG3 (N247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407627	NM_021016.4(PSG3):c.710C>T (p.Pro237Leu)	PSG3 (P237L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220244	NM_021016.4(PSG3):c.691G>C (p.Val231Leu)	PSG3 (V231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404169	NM_021016.4(PSG3):c.658C>T (p.Arg220Trp)	PSG3 (R220W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220243	NM_021016.4(PSG3):c.638G>A (p.Gly213Glu)	PSG3 (G213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220242	NM_021016.4(PSG3):c.576C>G (p.Ser192Arg)	PSG3 (S192R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220241	NM_021016.4(PSG3):c.568A>T (p.Thr190Ser)	PSG3 (T190S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367929	NM_021016.4(PSG3):c.549T>A (p.Asn183Lys)	PSG3 (N183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492517	NM_021016.4(PSG3):c.544A>C (p.Met182Leu)	PSG3 (M182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220240	NM_021016.4(PSG3):c.518C>T (p.Thr173Ile)	PSG3 (T173I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220239	NM_021016.4(PSG3):c.503C>T (p.Thr168Ile)	PSG3 (T168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476288	NM_021016.4(PSG3):c.490G>T (p.Ala164Ser)	PSG3 (A164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220238	NM_021016.4(PSG3):c.483C>A (p.Asp161Glu)	PSG3 (D161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515721	NM_021016.4(PSG3):c.482A>C (p.Asp161Ala)	PSG3 (D161A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552653	NM_021016.4(PSG3):c.468A>C (p.Leu156Phe)	PSG3 (L156F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329889	NM_021016.4(PSG3):c.449C>A (p.Ser150Tyr)	PSG3 (S150Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459853	NM_021016.4(PSG3):c.445C>A (p.Pro149Thr)	PSG3 (P149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206941	NM_021016.4(PSG3):c.431T>C (p.Leu144Pro)	PSG3 (L144P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146150	GRCh38/hg38 19q13.2-13.31(chr19:42738443-43025849)x3	PSG1, PSG11 +5 more	Copy number gain	See cases	GBenign
Select item 161031	GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x1	LOC284344, PSG1 +10 more	Copy number loss	See cases	GBenign
Select item 161029	GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x3	LOC284344, PSG1 +10 more	Copy number gain	See cases	GBenign
Select item 57144	GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x3	LOC284344, PSG1 +10 more	Copy number gain	See cases	GBenign
Select item 33235	GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x1	LOC284344, PSG1 +10 more	Copy number loss	See cases	GBenign
Select item 150354	GRCh38/hg38 19q13.2-13.31(chr19:42738659-43080347)x1	PSG1, PSG11 +6 more	Copy number loss	See cases	GLikely benign
Select item 149922	GRCh38/hg38 19q13.2-13.31(chr19:42738659-43025735)x1	PSG1, PSG11 +5 more	Copy number loss	See cases	GBenign/Likely benign
Select item 145511	GRCh38/hg38 19q13.2-13.31(chr19:42738659-43237562)x1	LOC284344, PSG1 +10 more	Copy number loss	See cases	GBenign/Likely benign
Select item 2345561	NM_021016.4(PSG3):c.383G>T (p.Gly128Val)	PSG3 (G128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510747	NM_021016.4(PSG3):c.376A>C (p.Lys126Gln)	PSG3 (K126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510746	NM_021016.4(PSG3):c.373G>A (p.Val125Ile)	PSG3 (V125I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479266	NM_021016.4(PSG3):c.373G>C (p.Val125Leu)	PSG3 (V125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397641	NM_021016.4(PSG3):c.368A>G (p.His123Arg)	PSG3 (H123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515316	NM_021016.4(PSG3):c.359A>G (p.Tyr120Cys)	PSG3 (Y120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320324	NM_021016.4(PSG3):c.356C>T (p.Ser119Phe)	PSG3 (S119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220236	NM_021016.4(PSG3):c.301G>A (p.Val101Ile)	PSG3 (V101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323840	NM_021016.4(PSG3):c.293G>A (p.Arg98Gln)	PSG3 (R98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465124	NM_021016.4(PSG3):c.286A>T (p.Ser96Cys)	PSG3 (S96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462143	NM_021016.4(PSG3):c.256G>C (p.Gly86Arg)	PSG3 (G86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409562	NM_021016.4(PSG3):c.223C>T (p.Leu75Phe)	PSG3 (L75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276746	NM_021016.4(PSG3):c.222C>A (p.Asp74Glu)	PSG3 (D74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232072	NM_021016.4(PSG3):c.215T>G (p.Met72Arg)	PSG3 (M72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220234	NM_021016.4(PSG3):c.187G>A (p.Ala63Thr)	PSG3 (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384742	NM_021016.4(PSG3):c.158T>C (p.Leu53Pro)	PSG3 (L53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233104	NM_021016.4(PSG3):c.139A>G (p.Lys47Glu)	PSG3 (K47E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219693	NM_021016.4(PSG3):c.121G>A (p.Glu41Lys)	PSG3 (E41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220231	NM_021016.4(PSG3):c.113T>C (p.Ile38Thr)	PSG3 (I38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650045	NM_021016.4(PSG3):c.90G>A (p.Leu30=)	PSG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327556	NM_021016.4(PSG3):c.37A>G (p.Ile13Val)	PSG3 (I13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220237	NM_021016.4(PSG3):c.35G>A (p.Arg12His)	PSG3 (R12H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273463	NM_021016.4(PSG3):c.34C>T (p.Arg12Cys)	PSG3 (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220246	NM_021016.4(PSG3):c.8C>T (p.Pro3Leu)	PSG3 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 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 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	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic

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Items: 77