ClinVar for Gene (Select 5676) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310922	NM_002783.3(PSG7):c.989A>G (p.Tyr330Cys)	PSG7 (Y208C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310921	NM_002783.3(PSG7):c.565A>G (p.Met189Val)	PSG7 (M189V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310920	NM_002783.3(PSG7):c.811T>C (p.Tyr271His)	PSG7 (Y149H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310919	NM_002783.3(PSG7):c.518C>G (p.Thr173Ser)	PSG7 (T51S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310918	NM_002783.3(PSG7):c.1049T>G (p.Leu350Arg)	PSG7 (L228R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310917	NM_002783.3(PSG7):c.866G>A (p.Arg289His)	PSG7 (R167H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310914	NM_002783.3(PSG7):c.1120C>G (p.Leu374Val)	PSG7 (L374V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310913	NM_002783.3(PSG7):c.67T>C (p.Ser23Pro)	PSG7 (S23P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310912	NM_002783.3(PSG7):c.573C>G (p.His191Gln)	PSG7 (H191Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310911	NM_002783.3(PSG7):c.576C>G (p.Ser192Arg)	PSG7 (S192R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310910	NM_002783.3(PSG7):c.41C>T (p.Thr14Ile)	PSG7 (T14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220287	NM_002783.3(PSG7):c.964G>T (p.Asp322Tyr)	PSG7 (D322Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220286	NM_002783.3(PSG7):c.925C>G (p.Gln309Glu)	PSG7 (Q309E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220285	NM_002783.3(PSG7):c.751C>T (p.Pro251Ser)	PSG7 (P251S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220284	NM_002783.3(PSG7):c.718C>T (p.Pro240Ser)	PSG7 (P118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220283	NM_002783.3(PSG7):c.667G>C (p.Val223Leu)	PSG7 (V101L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220282	NM_002783.3(PSG7):c.632C>T (p.Thr211Ile)	PSG7 (T211I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220281	NM_002783.3(PSG7):c.559C>T (p.Leu187Phe)	PSG7 (L187F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220280	NM_002783.3(PSG7):c.512C>A (p.Pro171His)	PSG7 (P171H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220279	NM_002783.3(PSG7):c.497T>G (p.Ile166Ser)	PSG7 (I44S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220278	NM_002783.3(PSG7):c.142G>A (p.Gly48Arg)	PSG7 (G48R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220277	NM_002783.3(PSG7):c.1118A>G (p.Gln373Arg)	PSG7 (Q373R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220276	NM_002783.3(PSG7):c.1070A>G (p.Asp357Gly)	PSG7 (D357G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220275	NM_002783.3(PSG7):c.1047C>G (p.Asn349Lys)	PSG7 (N227K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650054	NM_002783.3(PSG7):c.177C>T (p.Pro59=)	PSG7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650053	NM_002783.3(PSG7):c.431-7C>T	PSG7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650052	NM_002783.3(PSG7):c.609C>T (p.Tyr203=)	PSG7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613193	NM_002783.3(PSG7):c.58C>G (p.Leu20Val)	PSG7 (L20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588799	NM_002783.3(PSG7):c.1067C>T (p.Ala356Val)	PSG7 (A234V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570079	NM_002783.3(PSG7):c.605T>G (p.Leu202Arg)	PSG7 (L202R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560265	NM_002783.3(PSG7):c.958C>G (p.Arg320Gly)	PSG7 (R320G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559193	NM_002783.3(PSG7):c.59T>A (p.Leu20His)	PSG7 (L20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555079	NM_002783.3(PSG7):c.317C>T (p.Ser106Phe)	PSG7 (S106F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550241	NM_002783.3(PSG7):c.773C>T (p.Ser258Leu)	PSG7 (S258L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535862	NM_002783.3(PSG7):c.62C>A (p.Thr21Lys)	PSG7 (T21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532854	NM_002783.3(PSG7):c.527C>A (p.Ala176Glu)	PSG7 (A176E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532804	NM_002783.3(PSG7):c.1190G>A (p.Arg397His)	PSG7 (R397H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528184	NM_002783.3(PSG7):c.20C>T (p.Pro7Leu)	PSG7 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527490	NM_002783.3(PSG7):c.524A>C (p.Asp175Ala)	PSG7 (D53A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521013	NM_002783.3(PSG7):c.35A>G (p.His12Arg)	PSG7 (H12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508178	NM_002783.3(PSG7):c.199T>C (p.Trp67Arg)	PSG7 (W67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466285	NM_002783.3(PSG7):c.427T>C (p.Tyr143His)	PSG7 (Y143H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465779	NM_002783.3(PSG7):c.1051T>G (p.Tyr351Asp)	PSG7 (Y229D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457010	NM_002783.3(PSG7):c.1205G>A (p.Gly402Asp)	PSG7 (G280D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454856	NM_002783.3(PSG7):c.1237G>A (p.Val413Ile)	PSG7 (V413I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405296	NM_002783.3(PSG7):c.937C>T (p.Arg313Trp)	PSG7 (R313W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403855	NM_002783.3(PSG7):c.834G>C (p.Gln278His)	PSG7 (Q156H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387350	NM_002783.3(PSG7):c.1163A>G (p.His388Arg)	PSG7 (H266R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384895	NM_002783.3(PSG7):c.433G>C (p.Glu145Gln)	PSG7 (E23Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382669	NM_002783.3(PSG7):c.1055T>G (p.Leu352Trp)	PSG7 (L352W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360272	NM_002783.3(PSG7):c.84G>C (p.Trp28Cys)	PSG7 (W28C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353888	NM_002783.3(PSG7):c.818G>C (p.Trp273Ser)	PSG7 (W151S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339902	NM_002783.3(PSG7):c.1076A>G (p.Asn359Ser)	PSG7 (N359S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327557	NM_002783.3(PSG7):c.1098G>C (p.Trp366Cys)	PSG7 (W244C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324856	NM_002783.3(PSG7):c.1087C>G (p.Gln363Glu)	PSG7 (Q363E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317924	NM_002783.3(PSG7):c.1048C>T (p.Leu350Phe)	PSG7 (L228F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295276	NM_002783.3(PSG7):c.887T>C (p.Ile296Thr)	PSG7 (I174T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276946	NM_002783.3(PSG7):c.994C>T (p.Pro332Ser)	PSG7 (P210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276274	NM_002783.3(PSG7):c.1003C>T (p.Pro335Ser)	PSG7 (P213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272182	NM_002783.3(PSG7):c.422C>G (p.Thr141Ser)	PSG7 (T141S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261021	NM_002783.3(PSG7):c.286A>G (p.Ser96Gly)	PSG7 (S96G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251387	NM_002783.3(PSG7):c.584T>C (p.Leu195Pro)	PSG7 (L73P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244395	NM_002783.3(PSG7):c.1127G>A (p.Gly376Glu)	PSG7 (G254E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242321	NM_002783.3(PSG7):c.629A>G (p.Tyr210Cys)	PSG7 (Y210C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237914	NM_002783.3(PSG7):c.1015C>T (p.Pro339Ser)	PSG7 (P217S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234513	NM_002783.3(PSG7):c.493G>A (p.Val165Met)	PSG7 (V43M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227987	NM_002783.3(PSG7):c.10C>G (p.Leu4Val)	PSG7 (L4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218408	NM_002783.3(PSG7):c.578T>G (p.Leu193Trp)	PSG7 (L193W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217286	NM_002783.3(PSG7):c.974C>A (p.Thr325Asn)	PSG7 (T203N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217284	NM_002783.3(PSG7):c.968C>G (p.Pro323Arg)	PSG7 (P323R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210533	NM_002783.3(PSG7):c.1060T>C (p.Cys354Arg)	PSG7 (C354R +1 more)	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 722978	NM_002783.3(PSG7):c.1186G>C (p.Val396Leu)	PSG7 (V274L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719764	NM_002783.3(PSG7):c.441C>G (p.Pro147=)	PSG7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
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 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 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
Select item 157447	Single allele	PSG1, PSG11 +2 more	Deletion	Preeclampsia +1 more	Gnot provided
Select item 157446	Single allele	PSG1, PSG11 +5 more	Deletion	Normal pregnancy	Gnot provided
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 154675	GRCh38/hg38 19q13.2-13.31(chr19:42850107-43141456)x1	PSG1, PSG11 +3 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 149888	GRCh38/hg38 19q13.31(chr19:42918795-43237562)x1	LOC284344, PSG11 +5 more	Copy number loss	See cases	GLikely benign
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 146150	GRCh38/hg38 19q13.2-13.31(chr19:42738443-43025849)x3	PSG1, PSG11 +5 more	Copy number gain	See cases	GBenign

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