PSG11-AS1[gene] - ClinVar

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Items: 37

	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 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 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 147885	GRCh38/hg38 19q13.2-13.31(chr19:42850107-43237158)x1	LOC284344, PSG1 +7 more	Copy number loss	See cases	GBenign
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 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 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 157454	Single allele	PSG11-AS1, PSG4 +1 more	Deletion	Preeclampsia	Gnot provided
Select item 157455	Single allele	LINC03078, LOC284344 +4 more	Deletion	Normal pregnancy	Gnot provided
Select item 2395583	NM_002781.4(PSG5):c.983G>A (p.Arg328His)	PSG11-AS1, PSG5 (R328H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368209	NM_002781.4(PSG5):c.968C>T (p.Pro323Leu)	PSG5, PSG11-AS1 (P323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769013	NM_002781.4(PSG5):c.921T>C (p.Ala307=)	PSG11-AS1, PSG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220264	NM_002781.4(PSG5):c.917C>T (p.Ser306Leu)	PSG11-AS1, PSG5 (S306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256084	NM_002781.4(PSG5):c.910C>T (p.Arg304Cys)	PSG11-AS1, PSG5 (R304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472982	NM_002781.4(PSG5):c.901T>C (p.Cys301Arg)	PSG11-AS1, PSG5 (C301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311337	NM_002781.4(PSG5):c.882G>T (p.Lys294Asn)	PSG11-AS1, PSG5 (K294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310898	NM_002781.4(PSG5):c.829G>A (p.Gly277Arg)	PSG11-AS1, PSG5 (G277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220263	NM_002781.4(PSG5):c.826A>T (p.Asn276Tyr)	PSG11-AS1, PSG5 (N276Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220262	NM_002781.4(PSG5):c.797A>G (p.Asn266Ser)	PSG11-AS1, PSG5 (N266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524331	NM_002781.4(PSG5):c.794C>G (p.Ser265Cys)	PSG11-AS1, PSG5 (S265C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370877	NM_002781.4(PSG5):c.659G>A (p.Arg220Gln)	PSG11-AS1, PSG5 (R220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246394	NM_002781.4(PSG5):c.617G>A (p.Ser206Asn)	PSG11-AS1, PSG5 (S206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383598	NM_002781.4(PSG5):c.587C>T (p.Pro196Leu)	PSG11-AS1, PSG5 (P196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512946	NM_002781.4(PSG5):c.563C>T (p.Pro188Leu)	PSG11-AS1, PSG5 (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475909	NM_002781.4(PSG5):c.536T>C (p.Ile179Thr)	PSG11-AS1, PSG5 (I179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333927	NM_002781.4(PSG5):c.535A>G (p.Ile179Val)	PSG11-AS1, PSG5 (I179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311594	NM_002781.4(PSG5):c.525C>G (p.Asn175Lys)	PSG11-AS1, PSG5 (N175K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784397	NM_002781.4(PSG5):c.516G>A (p.Lys172=)	PSG11-AS1, PSG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343177	NM_002781.4(PSG5):c.510A>C (p.Glu170Asp)	PSG11-AS1, PSG5 (E170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342910	NM_002781.4(PSG5):c.496G>C (p.Ala166Pro)	PSG11-AS1, PSG5 (A166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220261	NM_002781.4(PSG5):c.493T>G (p.Leu165Val)	PSG11-AS1, PSG5 (L165V)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 37