ClinVar for Gene (Select 440533) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310931	NM_182707.3(PSG8):c.942C>A (p.Asp314Glu)	PSG8 (D192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310930	NM_182707.3(PSG8):c.491C>T (p.Ala164Val)	PSG8 (A164V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310929	NM_182707.3(PSG8):c.546G>A (p.Met182Ile)	PSG8 (M182I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310928	NM_182707.3(PSG8):c.349G>A (p.Ala117Thr)	PSG8 (A117T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3310927	NM_182707.3(PSG8):c.1058C>A (p.Ser353Tyr)	PSG8 (S353Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310926	NM_182707.3(PSG8):c.902C>T (p.Thr301Met)	PSG8 (T179M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310925	NM_182707.3(PSG8):c.269T>C (p.Ile90Thr)	PSG8 (I90T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310924	NM_182707.3(PSG8):c.482C>A (p.Ala161Asp)	PSG8 (A39D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310923	NM_182707.3(PSG8):c.1033C>T (p.Arg345Cys)	PSG8 (R345C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220308	NM_182707.3(PSG8):c.994C>T (p.Pro332Ser)	PSG8 (P210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220307	NM_182707.3(PSG8):c.910G>C (p.Glu304Gln)	PSG8 (E182Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220306	NM_182707.3(PSG8):c.863G>A (p.Arg288Gln)	PSG8 (R166Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220305	NM_182707.3(PSG8):c.680G>A (p.Arg227His)	PSG8 (R227H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220304	NM_182707.3(PSG8):c.541T>A (p.Trp181Arg)	PSG8 (W59R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220303	NM_182707.3(PSG8):c.502A>G (p.Thr168Ala)	PSG8 (T168A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220302	NM_182707.3(PSG8):c.385G>A (p.Asp129Asn)	PSG8 (D129N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220301	NM_182707.3(PSG8):c.377T>A (p.Met126Lys)	PSG8 (M126K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3220300	NM_182707.3(PSG8):c.376A>C (p.Met126Leu)	PSG8 (M126L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220299	NM_182707.3(PSG8):c.271T>C (p.Tyr91His)	PSG8 (Y91H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220298	NM_182707.3(PSG8):c.248T>A (p.Val83Glu)	PSG8 (V83E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220297	NM_182707.3(PSG8):c.209G>A (p.Gly70Glu)	PSG8 (G70E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220296	NM_182707.3(PSG8):c.163G>T (p.Val55Phe)	PSG8 (V55F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220295	NM_182707.3(PSG8):c.158T>C (p.Leu53Pro)	PSG8 (L53P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220294	NM_182707.3(PSG8):c.1270A>G (p.Ile424Val)	PSG8 (I424V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220293	NM_182707.3(PSG8):c.1181G>C (p.Cys394Ser)	PSG8 (C272S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220292	NM_182707.3(PSG8):c.1168G>A (p.Gly390Arg)	PSG8 (G390R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220291	NM_182707.3(PSG8):c.1069G>T (p.Asp357Tyr)	PSG8 (D235Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220290	NM_182707.3(PSG8):c.1044A>T (p.Glu348Asp)	PSG8 (E348D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220289	NM_182707.3(PSG8):c.1033C>A (p.Arg345Ser)	PSG8 (R223S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025946	NM_182707.3(PSG8):c.937A>C (p.Arg313=)	PSG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650046	NM_182707.3(PSG8):c.66A>G (p.Ala22=)	PSG8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2603987	NM_182707.3(PSG8):c.701A>G (p.Asn234Ser)	PSG8 (N234S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596759	NM_182707.3(PSG8):c.23C>T (p.Pro8Leu)	PSG8 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596758	NM_182707.3(PSG8):c.196A>G (p.Ile66Val)	PSG8 (I66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594790	NM_182707.3(PSG8):c.710C>T (p.Pro237Leu)	PSG8 (P115L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593927	NM_182707.3(PSG8):c.372C>G (p.Ile124Met)	PSG8 (I124M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589681	NM_182707.3(PSG8):c.127A>C (p.Thr43Pro)	PSG8 (T43P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559706	NM_182707.3(PSG8):c.1016C>A (p.Pro339His)	PSG8 (P217H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542377	NM_182707.3(PSG8):c.95C>G (p.Thr32Arg)	PSG8 (T32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542175	NM_182707.3(PSG8):c.824T>C (p.Leu275Pro)	PSG8 (L153P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534386	NM_182707.3(PSG8):c.497G>T (p.Ser166Ile)	PSG8 (S44I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525956	NM_182707.3(PSG8):c.839T>A (p.Leu280His)	PSG8 (L158H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513418	NM_182707.3(PSG8):c.121C>G (p.Gln41Glu)	PSG8 (Q41E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476243	NM_182707.3(PSG8):c.1114T>C (p.Phe372Leu)	PSG8 (F372L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470955	NM_182707.3(PSG8):c.170A>G (p.Asn57Ser)	PSG8 (N57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468288	NM_182707.3(PSG8):c.576G>C (p.Arg192Ser)	PSG8 (R192S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468287	NM_182707.3(PSG8):c.568T>A (p.Ser190Thr)	PSG8 (S190T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468078	NM_182707.3(PSG8):c.769G>A (p.Val257Ile)	PSG8 (V135I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461048	NM_182707.3(PSG8):c.1261T>C (p.Ser421Pro)	PSG8 (S421P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459132	NM_182707.3(PSG8):c.667G>C (p.Val223Leu)	PSG8 (V101L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409279	NM_182707.3(PSG8):c.502A>T (p.Thr168Ser)	PSG8 (T46S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408138	NM_182707.3(PSG8):c.472C>A (p.Pro158Thr)	PSG8 (P158T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407150	NM_182707.3(PSG8):c.799G>A (p.Glu267Lys)	PSG8 (E267K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406993	NM_182707.3(PSG8):c.302T>C (p.Ile101Thr)	PSG8 (I101T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404781	NM_182707.3(PSG8):c.471C>G (p.Asn157Lys)	PSG8 (N35K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398680	NM_182707.3(PSG8):c.47A>C (p.Lys16Thr)	PSG8 (K16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390267	NM_182707.3(PSG8):c.187A>G (p.Thr63Ala)	PSG8 (T63A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2388529	NM_182707.3(PSG8):c.679C>T (p.Arg227Cys)	PSG8 (R105C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375530	NM_182707.3(PSG8):c.379G>C (p.Gly127Arg)	PSG8 (G127R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2369624	NM_182707.3(PSG8):c.88C>T (p.Pro30Ser)	PSG8 (P30S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366954	NM_182707.3(PSG8):c.842C>A (p.Pro281Gln)	PSG8 (P281Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363368	NM_182707.3(PSG8):c.286A>C (p.Ser96Arg)	PSG8 (S96R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362090	NM_182707.3(PSG8):c.958C>T (p.Arg320Cys)	PSG8 (R320C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357551	NM_182707.3(PSG8):c.1208A>T (p.Lys403Met)	PSG8 (K403M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347947	NM_182707.3(PSG8):c.866C>G (p.Pro289Arg)	PSG8 (P289R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342469	NM_182707.3(PSG8):c.627G>T (p.Lys209Asn)	PSG8 (K87N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331030	NM_182707.3(PSG8):c.585G>C (p.Leu195Phe)	PSG8 (L195F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327473	NM_182707.3(PSG8):c.1106A>G (p.Asn369Ser)	PSG8 (N369S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307485	NM_182707.3(PSG8):c.481G>A (p.Ala161Thr)	PSG8 (A161T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290494	NM_182707.3(PSG8):c.854G>A (p.Arg285Lys)	PSG8 (R163K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233105	NM_182707.3(PSG8):c.41C>G (p.Thr14Ser)	PSG8 (T14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223533	NM_182707.3(PSG8):c.829G>T (p.Gly277Cys)	PSG8 (G277C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204971	NM_182707.3(PSG8):c.1249C>G (p.Arg417Gly)	PSG8 (R417G)	Single nucleotide variant (missense variant +1 more)	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 777531	NM_182707.3(PSG8):c.345A>G (p.Glu115=)	PSG8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 771037	NM_182707.3(PSG8):c.430+7G>C	PSG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 736307	NM_182707.3(PSG8):c.210G>A (p.Gly70=)	PSG8	Single nucleotide variant (synonymous variant +1 more)	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 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 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 146150	GRCh38/hg38 19q13.2-13.31(chr19:42738443-43025849)x3	PSG1, PSG11 +5 more	Copy number gain	See cases	GBenign
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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
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 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

ClinVar

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Links from Gene

Items: 94