PSG9[gene] - ClinVar

Search results

Items: 90

	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 157455	Single allele	LINC03078, LOC284344 +4 more	Deletion	Normal pregnancy	Gnot provided
Select item 147136	GRCh38/hg38 19q13.31(chr19:43185848-43253584)x1	LOC284344, PSG4 +2 more	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 147219	GRCh38/hg38 19q13.31(chr19:43204810-43253584)x1	LOC284344, PSG4 +1 more	Copy number loss	See cases	GBenign
Select item 2650058	NM_002784.5(PSG9):c.1243+13C>G	PSG9 (P326R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3220314	NM_002784.5(PSG9):c.1238T>C (p.Val413Ala)	PSG9 (V413A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593590	NM_002784.5(PSG9):c.1234A>G (p.Lys412Glu)	PSG9 (K226E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220313	NM_002784.5(PSG9):c.1227G>C (p.Met409Ile)	PSG9 (M316I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251945	NM_002784.5(PSG9):c.1214T>C (p.Ile405Thr)	PSG9 (I312T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220312	NM_002784.5(PSG9):c.1178C>A (p.Ala393Asp)	PSG9 (A207D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770286	NM_002784.5(PSG9):c.1168G>A (p.Gly390Arg)	PSG9 (G297R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3220311	NM_002784.5(PSG9):c.1138T>C (p.Phe380Leu)	PSG9 (F287L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378552	NM_002784.5(PSG9):c.1116T>G (p.Phe372Leu)	PSG9 (F372L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220310	NM_002784.5(PSG9):c.1100C>T (p.Thr367Ile)	PSG9 (T181I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589824	NM_002784.5(PSG9):c.1094T>C (p.Phe365Ser)	PSG9 (F272S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220309	NM_002784.5(PSG9):c.1088A>G (p.Glu363Gly)	PSG9 (E177G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341669	NM_002784.5(PSG9):c.1051G>T (p.Asp351Tyr)	PSG9 (D351Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327868	NM_002784.5(PSG9):c.1007G>T (p.Arg336Ile)	PSG9 (R336I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330061	NM_002784.5(PSG9):c.995C>T (p.Pro332Leu)	PSG9 (P332L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293969	NM_002784.5(PSG9):c.991G>C (p.Gly331Arg)	PSG9 (G238R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310938	NM_002784.5(PSG9):c.980A>T (p.Asn327Ile)	PSG9 (N327I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375675	NM_002784.5(PSG9):c.967C>T (p.Pro323Ser)	PSG9 (P323S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485708	NM_002784.5(PSG9):c.959G>T (p.Arg320Leu)	PSG9 (R227L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220327	NM_002784.5(PSG9):c.946T>G (p.Tyr316Asp)	PSG9 (Y223D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314632	NM_002784.5(PSG9):c.944G>A (p.Arg315Gln)	PSG9 (R222Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605132	NM_002784.5(PSG9):c.935T>C (p.Ile312Thr)	PSG9 (I312T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351978	NM_002784.5(PSG9):c.896G>A (p.Ser299Asn)	PSG9 (S206N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310935	NM_002784.5(PSG9):c.863G>C (p.Arg288Pro)	PSG9 (R195P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538996	NM_002784.5(PSG9):c.836G>A (p.Ser279Asn)	PSG9 (S186N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310939	NM_002784.5(PSG9):c.776C>A (p.Ala259Asp)	PSG9 (A166D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220326	NM_002784.5(PSG9):c.766G>C (p.Asp256His)	PSG9 (D256H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220325	NM_002784.5(PSG9):c.762T>G (p.Asn254Lys)	PSG9 (N254K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352714	NM_002784.5(PSG9):c.750C>A (p.Asn250Lys)	PSG9 (N250K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220324	NM_002784.5(PSG9):c.734C>A (p.Thr245Asn)	PSG9 (T245N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358841	NM_002784.5(PSG9):c.734C>T (p.Thr245Ile)	PSG9 (T152I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373052	NM_002784.5(PSG9):c.723C>G (p.Ile241Met)	PSG9 (I148M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220323	NM_002784.5(PSG9):c.722T>A (p.Ile241Asn)	PSG9 (I148N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492760	NM_002784.5(PSG9):c.703C>T (p.Leu235Phe)	PSG9 (L235F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405198	NM_002784.5(PSG9):c.641C>G (p.Pro214Arg)	PSG9 (P214R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285458	NM_002784.5(PSG9):c.635C>A (p.Ala212Glu)	PSG9 (A212E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539376	NM_002784.5(PSG9):c.625A>C (p.Lys209Gln)	PSG9 (K209Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462765	NM_002784.5(PSG9):c.610C>A (p.Leu204Ile)	PSG9 (L204I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462764	NM_002784.5(PSG9):c.608A>T (p.Tyr203Phe)	PSG9 (Y203F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565023	NM_002784.5(PSG9):c.589A>G (p.Lys197Glu)	PSG9 (K197E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2463829	NM_002784.5(PSG9):c.559C>G (p.Leu187Val)	PSG9 (L187V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220321	NM_002784.5(PSG9):c.557G>A (p.Ser186Asn)	PSG9 (S186N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310937	NM_002784.5(PSG9):c.533A>G (p.Tyr178Cys)	PSG9 (Y178C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322363	NM_002784.5(PSG9):c.530G>C (p.Ser177Thr)	PSG9 (S177T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220320	NM_002784.5(PSG9):c.497G>T (p.Arg166Leu)	PSG9 (R166L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220319	NM_002784.5(PSG9):c.496C>A (p.Arg166Ser)	PSG9 (R166S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220318	NM_002784.5(PSG9):c.482C>T (p.Ala161Val)	PSG9 (A161V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650059	NM_002784.5(PSG9):c.441C>G (p.Pro147=)	PSG9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3220317	NM_002784.5(PSG9):c.426A>T (p.Leu142Phe)	PSG9 (L142F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355765	NM_002784.5(PSG9):c.404T>A (p.Ile135Asn)	PSG9 (I135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310934	NM_002784.5(PSG9):c.400G>C (p.Glu134Gln)	PSG9 (E134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220316	NM_002784.5(PSG9):c.380G>A (p.Arg127Gln)	PSG9 (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366446	NM_002784.5(PSG9):c.341G>A (p.Arg114Gln)	PSG9 (R114Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253253	NM_002784.5(PSG9):c.299C>T (p.Thr100Ile)	PSG9 (T100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336883	NM_002784.5(PSG9):c.283T>C (p.Tyr95His)	PSG9 (Y95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310933	NM_002784.5(PSG9):c.269T>C (p.Ile90Thr)	PSG9 (I90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623034	NM_002784.5(PSG9):c.242C>G (p.Ser81Trp)	PSG9 (S81W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371906	NM_002784.5(PSG9):c.214A>G (p.Met72Val)	PSG9 (M72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310932	NM_002784.5(PSG9):c.125C>T (p.Pro42Leu)	PSG9 (P42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307994	NM_002784.5(PSG9):c.124C>A (p.Pro42Thr)	PSG9 (P42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611830	NM_002784.5(PSG9):c.119C>T (p.Ala40Val)	PSG9 (A40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542764	NM_002784.5(PSG9):c.113T>C (p.Ile38Thr)	PSG9 (I38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456676	NM_002784.5(PSG9):c.89C>A (p.Pro30Gln)	PSG9 (P30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408842	NM_002784.5(PSG9):c.89C>T (p.Pro30Leu)	PSG9 (P30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356053	NM_002784.5(PSG9):c.88C>G (p.Pro30Ala)	PSG9 (P30A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220322	NM_002784.5(PSG9):c.67T>C (p.Ser23Pro)	PSG9 (S23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296658	NM_002784.5(PSG9):c.45G>T (p.Trp15Cys)	PSG9 (W15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310942	NM_002784.5(PSG9):c.40A>C (p.Thr14Pro)	PSG9 (T14P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257227	NM_002784.5(PSG9):c.35G>A (p.Arg12His)	PSG9 (R12H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359183	NM_002784.5(PSG9):c.34C>T (p.Arg12Cys)	PSG9 (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310941	NM_002784.5(PSG9):c.32A>G (p.Gln11Arg)	PSG9 (Q11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310940	NM_002784.5(PSG9):c.29C>G (p.Thr10Arg)	PSG9 (T10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549873	NM_002784.5(PSG9):c.22T>C (p.Ser8Pro)	PSG9 (S8P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549864	NM_002784.5(PSG9):c.13C>T (p.Pro5Ser)	PSG9 (P5S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386732	NM_002784.5(PSG9):c.8C>T (p.Pro3Leu)	PSG9 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265962	NM_002784.5(PSG9):c.7C>G (p.Pro3Ala)	PSG9 (P3A)	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 157453	Single allele	PSG1, PSG11 +6 more	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided

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Items: 90