PSG11[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +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 149888	GRCh38/hg38 19q13.31(chr19:42918795-43237562)x1	LOC284344, PSG11 +5 more	Copy number loss	See cases	GLikely benign
Select item 154803	GRCh38/hg38 19q13.31(chr19:42974981-43237562)x1	LOC284344, PSG11 +4 more	Copy number loss	See cases	GLikely benign
Select item 2285762	NM_002785.3(PSG11):c.925G>A (p.Gly309Ser)	PSG11 (G309S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327595	NM_002785.3(PSG11):c.914A>G (p.Asn305Ser)	PSG11 (N183S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348194	NM_002785.3(PSG11):c.679C>T (p.Arg227Cys)	PSG11 (R227C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611891	NM_002785.3(PSG11):c.658T>G (p.Trp220Gly)	PSG11 (W98G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261802	NM_002785.3(PSG11):c.627G>T (p.Lys209Asn)	PSG11 (K209N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380998	NM_002785.3(PSG11):c.587C>G (p.Ser196Cys)	PSG11 (S196C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528077	NM_002785.3(PSG11):c.565A>G (p.Met189Val)	PSG11 (M67V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350100	NM_002785.3(PSG11):c.544A>G (p.Met182Val)	PSG11 (M182V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399611	NM_002785.3(PSG11):c.490A>G (p.Thr164Ala)	PSG11 (T164A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384561	NM_002785.3(PSG11):c.486G>T (p.Met162Ile)	PSG11 (M40I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333243	NM_002785.3(PSG11):c.409T>A (p.Tyr137Asn)	PSG11 (Y137N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238720	NM_002785.3(PSG11):c.376A>C (p.Lys126Gln)	PSG11 (K126Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238719	NM_002785.3(PSG11):c.353G>T (p.Gly118Val)	PSG11 (G118V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238718	NM_002785.3(PSG11):c.350C>G (p.Ala117Gly)	PSG11 (A117G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219542	NM_002785.3(PSG11):c.316T>C (p.Ser106Pro)	PSG11 (S106P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459523	NM_002785.3(PSG11):c.239C>T (p.Thr80Ile)	PSG11 (T80I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384017	NM_002785.3(PSG11):c.232T>G (p.Tyr78Asp)	PSG11 (Y78D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247486	NM_002785.3(PSG11):c.223C>T (p.Leu75Phe)	PSG11 (L75F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328965	NM_002785.3(PSG11):c.194A>C (p.Tyr65Ser)	PSG11 (Y65S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239118	NM_002785.3(PSG11):c.148G>T (p.Asp50Tyr)	PSG11 (D50Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348095	NM_002785.3(PSG11):c.113T>C (p.Ile38Thr)	PSG11 (I38T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 144249	GRCh38/hg38 19q13.31(chr19:43025649-43237158)x3	LOC284344, PSG11 +4 more	Copy number gain	See cases	GBenign
Select item 150308	GRCh38/hg38 19q13.31(chr19:43025676-43237562)x1	LOC284344, PSG11 +4 more	Copy number loss	See cases	GLikely benign
Select item 2528645	NM_002785.3(PSG11):c.34C>G (p.His12Asp)	PSG11 (H12D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381176	NM_002785.3(PSG11):c.19C>T (p.Pro7Ser)	PSG11 (P7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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	ERCC2, PPP5C +121 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 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

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Items: 57