ClinVar for Gene (Select 5672) - ClinVar

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Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310896	NM_002780.5(PSG4):c.953G>C (p.Gly318Ala)	PSG4 (G196A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310895	NM_002780.5(PSG4):c.1090T>C (p.Tyr364His)	PSG4 (Y364H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310894	NM_002780.5(PSG4):c.400G>A (p.Val134Ile)	PSG4 (V134I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310892	NM_002780.5(PSG4):c.615T>A (p.Phe205Leu)	PSG4 (F205L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310891	NM_002780.5(PSG4):c.847A>G (p.Ser283Gly)	PSG4 (S161G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310890	NM_002780.5(PSG4):c.597C>A (p.Asn199Lys)	PSG4 (N199K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310889	NM_002780.5(PSG4):c.473C>T (p.Pro158Leu)	PSG4 (P36L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310888	NM_002780.5(PSG4):c.170A>G (p.Asn57Ser)	PSG4 (N57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310887	NM_002780.5(PSG4):c.1190G>A (p.Arg397His)	PSG4 (R275H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310886	NM_002780.5(PSG4):c.7C>A (p.Pro3Thr)	PSG4 (P3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310885	NM_002780.5(PSG4):c.1010T>C (p.Ile337Thr)	PSG4 (I244T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310884	NM_002780.5(PSG4):c.1008C>A (p.Ser336Arg)	PSG4 (S243R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220257	NM_002780.5(PSG4):c.958C>A (p.Arg320Ser)	PSG4 (R320S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220256	NM_002780.5(PSG4):c.839T>C (p.Leu280Pro)	PSG4 (L158P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220255	NM_002780.5(PSG4):c.775A>G (p.Thr259Ala)	PSG4 (T259A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220254	NM_002780.5(PSG4):c.706C>T (p.Leu236Phe)	PSG4 (L114F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220253	NM_002780.5(PSG4):c.65C>T (p.Ala22Val)	PSG4 (A22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220252	NM_002780.5(PSG4):c.632T>C (p.Ile211Thr)	PSG4 (I89T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3220251	NM_002780.5(PSG4):c.530G>A (p.Ser177Asn)	PSG4 (S55N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220250	NM_002780.5(PSG4):c.427C>A (p.His143Asn)	PSG4 (H143N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220249	NM_002780.5(PSG4):c.1238T>A (p.Val413Asp)	PSG4 (V413D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220248	NM_002780.5(PSG4):c.1171C>T (p.Leu391Phe)	PSG4 (L391F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650057	NM_002780.5(PSG4):c.65-576G>A	PSG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650056	NM_002780.5(PSG4):c.903G>A (p.Thr301=)	PSG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650055	NM_002780.5(PSG4):c.1250T>C (p.Ile417Thr)	PSG4 (I295T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615327	NM_002780.5(PSG4):c.664C>A (p.Pro222Thr)	PSG4 (P100T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569873	NM_002780.5(PSG4):c.113T>C (p.Ile38Thr)	PSG4 (I38T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559868	NM_002780.5(PSG4):c.50G>C (p.Gly17Ala)	PSG4 (G17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538922	NM_002780.5(PSG4):c.109A>G (p.Thr37Ala)	PSG4 (T37A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532504	NM_002780.5(PSG4):c.248T>C (p.Val83Ala)	PSG4 (V83A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484429	NM_002780.5(PSG4):c.482C>T (p.Ala161Val)	PSG4 (A39V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465268	NM_002780.5(PSG4):c.382C>T (p.Arg128Cys)	PSG4 (R128C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461341	NM_002780.5(PSG4):c.1066G>A (p.Ala356Thr)	PSG4 (A263T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400714	NM_002780.5(PSG4):c.847A>C (p.Ser283Arg)	PSG4 (S161R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394941	NM_002780.5(PSG4):c.452T>A (p.Ile151Asn)	PSG4 (I151N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394554	NM_002780.5(PSG4):c.916G>A (p.Gly306Arg)	PSG4 (G213R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385104	NM_002780.5(PSG4):c.461G>C (p.Ser154Thr)	PSG4 (S154T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384239	NM_002780.5(PSG4):c.710C>T (p.Pro237Leu)	PSG4 (P115L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373854	NM_002780.5(PSG4):c.53T>C (p.Val18Ala)	PSG4 (V18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350218	NM_002780.5(PSG4):c.778T>G (p.Phe260Val)	PSG4 (F138V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346749	NM_002780.5(PSG4):c.1174T>C (p.Tyr392His)	PSG4 (Y270H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334113	NM_002780.5(PSG4):c.995C>T (p.Pro332Leu)	PSG4 (P239L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322444	NM_002780.5(PSG4):c.362C>G (p.Thr121Ser)	PSG4 (T121S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315637	NM_002780.5(PSG4):c.856G>A (p.Val286Ile)	PSG4 (V164I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311336	NM_002780.5(PSG4):c.187G>A (p.Ala63Thr)	PSG4 (A63T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307644	NM_002780.5(PSG4):c.92C>T (p.Pro31Leu)	PSG4 (P31L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273589	NM_002780.5(PSG4):c.1081C>G (p.Arg361Gly)	PSG4 (R361G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271849	NM_002780.5(PSG4):c.8C>T (p.Pro3Leu)	PSG4 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265231	NM_002780.5(PSG4):c.387T>A (p.Asp129Glu)	PSG4 (D129E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258013	NM_002780.5(PSG4):c.565A>G (p.Met189Val)	PSG4 (M189V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241435	NM_002780.5(PSG4):c.703C>T (p.Leu235Phe)	PSG4 (L235F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2233824	NM_002780.5(PSG4):c.34C>T (p.Arg12Cys)	PSG4 (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215521	NM_002780.5(PSG4):c.325A>C (p.Ile109Leu)	PSG4 (I109L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215160	NM_002780.5(PSG4):c.1082G>A (p.Arg361Gln)	PSG4 (R239Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214335	NM_002780.5(PSG4):c.925C>G (p.Gln309Glu)	PSG4 (Q216E +2 more)	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 1229390	NM_002780.5(PSG4):c.674C>T (p.Ala225Val)	PSG4 (A103V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 769014	NM_002780.5(PSG4):c.799A>G (p.Lys267Glu)	PSG4 (K174E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 722043	NM_002780.5(PSG4):c.450C>T (p.Ser150=)	PSG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 722042	NM_002780.5(PSG4):c.823C>T (p.Leu275=)	PSG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 157455	Single allele	LINC03078, LOC284344 +4 more	Deletion	Normal pregnancy	Gnot provided
Select item 157454	Single allele	PSG11-AS1, PSG4 +1 more	Deletion	Preeclampsia	Gnot provided
Select item 157453	Single allele	PSG1, PSG11 +6 more	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 157451	Single allele	PSG1, PSG11 +5 more	Deletion	Normal pregnancy	Gnot provided
Select item 157446	Single allele	PSG1, PSG11 +5 more	Deletion	Normal pregnancy	Gnot provided
Select item 154803	GRCh38/hg38 19q13.31(chr19:42974981-43237562)x1	LOC284344, PSG11 +4 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 150308	GRCh38/hg38 19q13.31(chr19:43025676-43237562)x1	LOC284344, PSG11 +4 more	Copy number loss	See cases	GLikely 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 147219	GRCh38/hg38 19q13.31(chr19:43204810-43253584)x1	LOC284344, PSG4 +1 more	Copy number loss	See cases	GBenign
Select item 147177	GRCh38/hg38 19q13.31(chr19:43187154-43241966)x1	LOC284344, PSG4	Copy number loss	See cases	GBenign
Select item 147164	GRCh38/hg38 19q13.31(chr19:43187154-43253584)x1	LOC284344, PSG4 +1 more	Copy number loss	See cases	GBenign
Select item 147136	GRCh38/hg38 19q13.31(chr19:43185848-43253584)x1	LOC284344, PSG4 +2 more	Copy number loss	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 144249	GRCh38/hg38 19q13.31(chr19:43025649-43237158)x3	LOC284344, PSG11 +4 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

ClinVar

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Links from Gene

Items: 88