25878[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	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 3338423	Single allele	APIP, CD44 +74 more	Duplication	11p13 microduplication syndrome	GUncertain significance
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 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 149701	GRCh38/hg38 11p13-12(chr11:36007377-40318124)x1	COMMD9, IFTAP +36 more	Copy number loss	See cases	GLikely pathogenic
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 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 3310509	NM_001160167.2(PRR5L):c.31G>T (p.Val11Phe)	PRR5L (V11F)	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 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 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 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 716420	NM_001160167.2(PRR5L):c.234C>T (p.Asn78=)	PRR5L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 1227648	NM_001160167.2(PRR5L):c.415A>G (p.Thr139Ala)	PRR5L (T139A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 3310510	NM_001160167.2(PRR5L):c.833A>C (p.Glu278Ala)	PRR5L (E150A +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 790087	NM_001160167.2(PRR5L):c.891G>A (p.Ser297=)	PRR5L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 3310512	NM_001160167.2(PRR5L):c.1037C>T (p.Pro346Leu)	PRR5L (P346L +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 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 3310513	NM_001160167.2(PRR5L):c.1088A>G (p.Asn363Ser)	PRR5L (N235S +1 more)	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 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	MAML2, MAP3K11 +955 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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 53