5669[Gene ID] - ClinVar - NCBI

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	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 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
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 154675	GRCh38/hg38 19q13.2-13.31(chr19:42850107-43141456)x1	PSG1, PSG11 +3 more	Copy number loss	See cases	GBenign
Select item 147885	GRCh38/hg38 19q13.2-13.31(chr19:42850107-43237158)x1	LOC284344, PSG1 +7 more	Copy number loss	See cases	GBenign
Select item 154965	GRCh38/hg38 19q13.2-13.31(chr19:42850110-43080347)x1	PSG1, PSG11 +3 more	Copy number loss	See cases	GLikely benign
Select item 154771	GRCh38/hg38 19q13.2-13.31(chr19:42850110-43237562)x1	LOC284344, PSG1 +7 more	Copy number loss	See cases	GLikely benign
Select item 154770	GRCh38/hg38 19q13.2-13.31(chr19:42850110-43025735)x1	PSG1, PSG11 +2 more	Copy number loss	See cases	GLikely benign
Select item 2410121	NM_001184825.2(PSG1):c.1234G>A (p.Glu412Lys)	PSG1 (E319K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220183	NM_001184825.2(PSG1):c.1227G>C (p.Met409Ile)	PSG1 (M316I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525323	NM_001184825.2(PSG1):c.1208A>G (p.Lys403Arg)	PSG1 (K403R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301859	NM_001184825.2(PSG1):c.1187T>C (p.Val396Ala)	PSG1 (V303A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2323763	NM_001184825.2(PSG1):c.1145G>C (p.Arg382Pro)	PSG1 (R382P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335933	NM_001184825.2(PSG1):c.1087C>G (p.Gln363Glu)	PSG1 (Q270E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335932	NM_001184825.2(PSG1):c.1071C>A (p.Asp357Glu)	PSG1 (D264E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456851	NM_001184825.2(PSG1):c.1067C>T (p.Ala356Val)	PSG1 (A356V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310857	NM_001184825.2(PSG1):c.1056G>C (p.Leu352Phe)	PSG1 (L352F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370529	NM_001184825.2(PSG1):c.1013A>G (p.Tyr338Cys)	PSG1 (Y245C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220201	NM_001184825.2(PSG1):c.989A>G (p.Tyr330Cys)	PSG1 (Y237C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220200	NM_001184825.2(PSG1):c.982G>A (p.Val328Ile)	PSG1 (V235I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278290	NM_001184825.2(PSG1):c.964G>T (p.Asp322Tyr)	PSG1 (D229Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513091	NM_001184825.2(PSG1):c.959G>A (p.Arg320His)	PSG1 (R227H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472929	NM_001184825.2(PSG1):c.925C>G (p.Gln309Glu)	PSG1 (Q309E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310860	NM_001184825.2(PSG1):c.902C>T (p.Thr301Met)	PSG1 (T208M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220199	NM_001184825.2(PSG1):c.828T>G (p.Asn276Lys)	PSG1 (N276K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213302	NM_001184825.2(PSG1):c.812A>C (p.Tyr271Ser)	PSG1 (Y271S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298817	NM_001184825.2(PSG1):c.776A>C (p.Asn259Thr)	PSG1 (N166T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220198	NM_001184825.2(PSG1):c.766G>C (p.Asp256His)	PSG1 (D256H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220197	NM_001184825.2(PSG1):c.766G>A (p.Asp256Asn)	PSG1 (D163N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310858	NM_001184825.2(PSG1):c.740A>T (p.Asn247Ile)	PSG1 (N154I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220196	NM_001184825.2(PSG1):c.710C>T (p.Pro237Leu)	PSG1 (P144L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650047	NM_001184825.2(PSG1):c.709+8T>A	PSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2244795	NM_001184825.2(PSG1):c.701A>G (p.Asn234Ser)	PSG1 (N234S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287991	NM_001184825.2(PSG1):c.695C>T (p.Thr232Ile)	PSG1 (T232I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204799	NM_001184825.2(PSG1):c.691G>T (p.Val231Phe)	PSG1 (V231F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470526	NM_001184825.2(PSG1):c.687C>A (p.Asp229Glu)	PSG1 (D229E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484224	NM_001184825.2(PSG1):c.674C>T (p.Ala225Val)	PSG1 (A225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515988	NM_001184825.2(PSG1):c.576C>G (p.Ser192Arg)	PSG1 (S192R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2209327	NM_001184825.2(PSG1):c.573C>G (p.His191Gln)	PSG1 (H191Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480026	NM_001184825.2(PSG1):c.554A>G (p.Gln185Arg)	PSG1 (Q185R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220195	NM_001184825.2(PSG1):c.553C>A (p.Gln185Lys)	PSG1 (Q185K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300597	NM_001184825.2(PSG1):c.526G>T (p.Ala176Ser)	PSG1 (A176S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220194	NM_001184825.2(PSG1):c.501A>T (p.Leu167Phe)	PSG1 (L167F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220192	NM_001184825.2(PSG1):c.497G>T (p.Ser166Ile)	PSG1 (S166I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523935	NM_001184825.2(PSG1):c.489G>C (p.Glu163Asp)	PSG1 (E163D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523934	NM_001184825.2(PSG1):c.472C>A (p.Pro158Thr)	PSG1 (P158T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310854	NM_001184825.2(PSG1):c.449C>G (p.Ser150Cys)	PSG1 (S150C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310865	NM_001184825.2(PSG1):c.431T>C (p.Leu144Pro)	PSG1 (L144P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277732	NM_001184825.2(PSG1):c.418T>G (p.Phe140Val)	PSG1 (F140V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283046	NM_001184825.2(PSG1):c.410G>A (p.Arg137His)	PSG1 (R137H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310855	NM_001184825.2(PSG1):c.407G>T (p.Gly136Val)	PSG1 (G136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232707	NM_001184825.2(PSG1):c.389G>A (p.Gly130Glu)	PSG1 (G130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220191	NM_001184825.2(PSG1):c.374T>A (p.Ile125Lys)	PSG1 (I125K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467332	NM_001184825.2(PSG1):c.374T>C (p.Ile125Thr)	PSG1 (I125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527448	NM_001184825.2(PSG1):c.341G>A (p.Arg114Gln)	PSG1 (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373962	NM_001184825.2(PSG1):c.334G>A (p.Val112Ile)	PSG1 (V112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220190	NM_001184825.2(PSG1):c.301G>A (p.Ala101Thr)	PSG1 (A101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220188	NM_001184825.2(PSG1):c.269T>C (p.Ile90Thr)	PSG1 (I90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220187	NM_001184825.2(PSG1):c.263T>G (p.Ile88Arg)	PSG1 (I88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220186	NM_001184825.2(PSG1):c.262A>T (p.Ile88Leu)	PSG1 (I88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622302	NM_001184825.2(PSG1):c.247G>T (p.Val83Leu)	PSG1 (V83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310863	NM_001184825.2(PSG1):c.230A>G (p.His77Arg)	PSG1 (H77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220185	NM_001184825.2(PSG1):c.221A>G (p.Asp74Gly)	PSG1 (D74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310859	NM_001184825.2(PSG1):c.216G>A (p.Met72Ile)	PSG1 (M72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488868	NM_001184825.2(PSG1):c.209G>C (p.Gly70Ala)	PSG1 (G70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310864	NM_001184825.2(PSG1):c.181A>C (p.Asn61His)	PSG1 (N61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283598	NM_001184825.2(PSG1):c.174G>T (p.Leu58Phe)	PSG1 (L58F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621612	NM_001184825.2(PSG1):c.172T>G (p.Leu58Val)	PSG1 (L58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350547	NM_001184825.2(PSG1):c.155T>A (p.Leu52His)	PSG1 (L52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537652	NM_001184825.2(PSG1):c.113T>C (p.Ile38Thr)	PSG1 (I38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236912	NM_001184825.2(PSG1):c.110C>T (p.Thr37Met)	PSG1 (T37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388664	NM_001184825.2(PSG1):c.100G>A (p.Ala34Thr)	PSG1 (A34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310862	NM_001184825.2(PSG1):c.88C>A (p.Leu30Met)	PSG1 (L30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555916	NM_001184825.2(PSG1):c.87C>A (p.Asn29Lys)	PSG1 (N29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310856	NM_001184825.2(PSG1):c.86A>G (p.Asn29Ser)	PSG1 (N29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234059	NM_001184825.2(PSG1):c.35G>C (p.Arg12Pro)	PSG1 (R12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220189	NM_001184825.2(PSG1):c.27C>G (p.Cys9Trp)	PSG1 (C9W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220184	NM_001184825.2(PSG1):c.17C>A (p.Ala6Asp)	PSG1 (A6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220193	NM_001184825.2(PSG1):c.4G>A (p.Gly2Arg)	PSG1 (G2R)	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	ZNF607, ZNF780A +432 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 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
Select item 221767	GRCh37/hg19 19q13.2-13.31(chr19:43372386-43539189)x1	PSG1, PSG11 +2 more	Copy number loss	Premature ovarian failure	GBenign
Select item 157453	Single allele	PSG1, PSG11 +6 more	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 157452	Single allele	PSG1, PSG6 +1 more	Deletion	Preeclampsia	Gnot provided
Select item 157451	Single allele	PSG1, PSG11 +5 more	Deletion	Normal pregnancy	Gnot provided
Select item 157449	Single allele	PSG1, PSG11 +2 more	Deletion	Normal pregnancy	Gnot provided
Select item 157448	Single allele	PSG1, PSG11 +2 more	Deletion	Normal pregnancy	Gnot provided

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