PLSCR1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 57836	GRCh38/hg38 3q24(chr3:144319831-146552546)x1	LNCSRLR, LOC123192011 +16 more	Copy number loss	See cases	GPathogenic
Select item 2490975	NM_021105.3(PLSCR1):c.926G>A (p.Gly309Asp)	PLSCR1 (G309D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396244	NM_021105.3(PLSCR1):c.879G>A (p.Met293Ile)	PLSCR1 (M188I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302038	NM_021105.3(PLSCR1):c.847T>G (p.Leu283Val)	PLSCR1 (L178V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465266	NM_021105.3(PLSCR1):c.719G>T (p.Cys240Phe)	PLSCR1 (C233F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339499	NM_021105.3(PLSCR1):c.633C>A (p.His211Gln)	PLSCR1 (H106Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328964	NM_021105.3(PLSCR1):c.505G>T (p.Gly169Cys)	PLSCR1 (G169C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299449	NM_021105.3(PLSCR1):c.415G>A (p.Val139Ile)	PLSCR1 (V151I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215469	NM_021105.3(PLSCR1):c.251C>T (p.Pro84Leu)	PLSCR1 (P77L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215468	NM_021105.3(PLSCR1):c.175G>A (p.Ala59Thr)	PLSCR1 (A71T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215467	NM_021105.3(PLSCR1):c.154G>A (p.Gly52Ser)	PLSCR1 (G45S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208189	NM_021105.3(PLSCR1):c.146C>G (p.Pro49Arg)	PLSCR1 (P42R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385621	NM_021105.3(PLSCR1):c.80C>T (p.Pro27Leu)	PLSCR1 (P20L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394531	NM_021105.3(PLSCR1):c.52C>A (p.Pro18Thr)	PLSCR1 (C9* +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062703	GRCh37/hg19 3q24(chr3:144717495-148147770)x1	PLOD2, PLSCR1 +5 more	Copy number loss	not specified	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814486	GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	WWTR1, CP +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 814485	GRCh37/hg19 3q24(chr3:142909055-147190850)x1	SLC9A9, PLSCR4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394989	GRCh37/hg19 3q24(chr3:146213629-146254335)x3	PLSCR1, PLSCR2	Copy number gain	See cases	GLikely benign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 32