ClinVar for Gene (Select 101752399) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306660	NM_178238.4(PILRB):c.229C>T (p.His77Tyr)	PILRB, STAG3L5P-PVRIG2P-PILRB (H77Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3306659	NM_178238.4(PILRB):c.416T>G (p.Leu139Trp)	PILRB, STAG3L5P-PVRIG2P-PILRB (L139W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3306658	NM_178238.4(PILRB):c.590C>T (p.Ala197Val)	PILRB, STAG3L5P-PVRIG2P-PILRB (A197V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3306656	NM_178238.4(PILRB):c.303G>T (p.Trp101Cys)	PILRB, STAG3L5P-PVRIG2P-PILRB (W101C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3306655	NM_178238.4(PILRB):c.316G>A (p.Glu106Lys)	PILRB, STAG3L5P-PVRIG2P-PILRB (E106K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3213069	NM_178238.4(PILRB):c.616C>G (p.Leu206Val)	PILRB, STAG3L5P-PVRIG2P-PILRB (L206V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3213068	NM_178238.4(PILRB):c.461C>A (p.Thr154Lys)	PILRB, STAG3L5P-PVRIG2P-PILRB (T154K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3213067	NM_178238.4(PILRB):c.449C>T (p.Thr150Ile)	PILRB, STAG3L5P-PVRIG2P-PILRB (T150I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3213066	NM_178238.4(PILRB):c.286C>T (p.Arg96Trp)	PILRB, STAG3L5P-PVRIG2P-PILRB (R96W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3213065	NM_178238.4(PILRB):c.154C>T (p.Pro52Ser)	PILRB, STAG3L5P-PVRIG2P-PILRB (P52S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3213064	NM_178238.4(PILRB):c.133A>G (p.Met45Val)	PILRB, STAG3L5P-PVRIG2P-PILRB (M45V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2605024	NM_178238.4(PILRB):c.346C>G (p.Arg116Gly)	PILRB, STAG3L5P-PVRIG2P-PILRB (R116G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2589479	NM_178238.4(PILRB):c.218G>A (p.Arg73Gln)	PILRB, STAG3L5P-PVRIG2P-PILRB (R73Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2561211	NM_178238.4(PILRB):c.382G>A (p.Glu128Lys)	PILRB, STAG3L5P-PVRIG2P-PILRB (E128K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2521521	NM_178238.4(PILRB):c.599A>G (p.Lys200Arg)	PILRB, STAG3L5P-PVRIG2P-PILRB (K200R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2484585	NM_178238.4(PILRB):c.223C>G (p.His75Asp)	PILRB, STAG3L5P-PVRIG2P-PILRB (H75D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2408375	NM_178238.4(PILRB):c.88A>T (p.Ser30Cys)	PILRB, STAG3L5P-PVRIG2P-PILRB (S30C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2361139	NM_178238.4(PILRB):c.167A>G (p.Tyr56Cys)	PILRB, STAG3L5P-PVRIG2P-PILRB (Y56C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2314575	NM_178238.4(PILRB):c.553A>G (p.Ser185Gly)	PILRB, STAG3L5P-PVRIG2P-PILRB (S185G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2308566	NM_178238.4(PILRB):c.490A>G (p.Thr164Ala)	PILRB, STAG3L5P-PVRIG2P-PILRB (T164A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2307180	NM_178238.4(PILRB):c.626T>G (p.Leu209Arg)	PILRB, STAG3L5P-PVRIG2P-PILRB (L209R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223570	NM_178238.4(PILRB):c.544T>C (p.Trp182Arg)	PILRB, STAG3L5P-PVRIG2P-PILRB (W182R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217661	NM_178238.4(PILRB):c.445A>G (p.Ile149Val)	PILRB, STAG3L5P-PVRIG2P-PILRB (I149V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217203	NM_178238.4(PILRB):c.287G>A (p.Arg96Gln)	PILRB, STAG3L5P-PVRIG2P-PILRB (R96Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32