ClinVar for Gene (Select 79899) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219554	NM_001160167.2(PRR5L):c.938G>T (p.Gly313Val)	PRR5L (G313V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219553	NM_001160167.2(PRR5L):c.889T>G (p.Ser297Ala)	PRR5L (S169A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219552	NM_001160167.2(PRR5L):c.784C>T (p.Arg262Trp)	PRR5L (R262W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219551	NM_001160167.2(PRR5L):c.723C>T (p.His241=)	PRR5L (T199I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3219550	NM_001160167.2(PRR5L):c.508G>A (p.Val170Met)	PRR5L (V170M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219549	NM_001160167.2(PRR5L):c.45G>T (p.Lys15Asn)	PRR5L (K15N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219548	NM_001160167.2(PRR5L):c.307G>A (p.Ala103Thr)	PRR5L (A22T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219547	NM_001160167.2(PRR5L):c.217G>A (p.Glu73Lys)	PRR5L (E73K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219546	NM_001160167.2(PRR5L):c.16G>A (p.Ala6Thr)	PRR5L (A6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619105	NM_001160167.2(PRR5L):c.1091G>A (p.Cys364Tyr)	PRR5L (C236Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597599	NM_001160167.2(PRR5L):c.701C>T (p.Thr234Met)	PRR5L (T234M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595310	NM_001160167.2(PRR5L):c.719G>A (p.Arg240Gln)	PRR5L (G198S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559324	NM_001160167.2(PRR5L):c.1054G>A (p.Gly352Arg)	PRR5L (G352R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554350	NM_001160167.2(PRR5L):c.997C>A (p.His333Asn)	PRR5L (H333N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532007	NM_001160167.2(PRR5L):c.766C>T (p.Pro256Ser)	PRR5L (P128S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527368	NM_001160167.2(PRR5L):c.124C>T (p.Arg42Trp)	PRR5L (R42W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472532	NM_001160167.2(PRR5L):c.667G>A (p.Gly223Ser)	PRR5L (G95S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458981	NM_001160167.2(PRR5L):c.679G>C (p.Asp227His)	PRR5L (D227H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341982	NM_001160167.2(PRR5L):c.1000C>T (p.Arg334Trp)	PRR5L (R334W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341502	NM_001160167.2(PRR5L):c.947C>A (p.Ala316Asp)	PRR5L (A316D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333034	NM_001160167.2(PRR5L):c.1042G>A (p.Gly348Arg)	PRR5L (G348R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208339	NM_001160167.2(PRR5L):c.362G>T (p.Arg121Leu)	PRR5L (R40L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206718	NM_001160167.2(PRR5L):c.1024A>G (p.Ile342Val)	PRR5L (I214V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205820	NM_001160167.2(PRR5L):c.122C>A (p.Ala41Asp)	PRR5L (A41D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 1227648	NM_001160167.2(PRR5L):c.415A>G (p.Thr139Ala)	PRR5L (T139A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 790088	NM_001160167.2(PRR5L):c.936G>T (p.Leu312=)	PRR5L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 790087	NM_001160167.2(PRR5L):c.891G>A (p.Ser297=)	PRR5L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776603	NM_001160167.2(PRR5L):c.8G>A (p.Arg3His)	PRR5L (R3H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 716420	NM_001160167.2(PRR5L):c.234C>T (p.Asn78=)	PRR5L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 443176	GRCh37/hg19 11p13-12(chr11:35126357-38814431)x1	CD44, COMMD9 +10 more	Copy number loss	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 149701	GRCh38/hg38 11p13-12(chr11:36007377-40318124)x1	COMMD9, IFTAP +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 59413	GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1	CD44, CD44-AS1 +66 more	Copy number loss	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 48