24554[HGNC] - ClinVar

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Items: 74

	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 2288806	NM_001001991.3(PAMR1):c.2142G>T (p.Trp714Cys)	PAMR1 (W603C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596925	NM_001001991.3(PAMR1):c.2041C>T (p.Pro681Ser)	PAMR1 (P641S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208277	NM_001001991.3(PAMR1):c.2021C>T (p.Pro674Leu)	PAMR1 (P563L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208276	NM_001001991.3(PAMR1):c.2006C>T (p.Ala669Val)	PAMR1 (A669V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304165	NM_001001991.3(PAMR1):c.2000G>A (p.Gly667Asp)	PAMR1 (G627D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245282	NM_001001991.3(PAMR1):c.1925G>A (p.Ser642Asn)	PAMR1 (S602N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641723	NM_001001991.3(PAMR1):c.1902T>C (p.His634=)	PAMR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3208275	NM_001001991.3(PAMR1):c.1853G>A (p.Arg618His)	PAMR1 (R635H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383632	NM_001001991.3(PAMR1):c.1852C>T (p.Arg618Cys)	PAMR1 (R578C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304166	NM_001001991.3(PAMR1):c.1819G>A (p.Val607Met)	PAMR1 (V496M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353578	NM_001001991.3(PAMR1):c.1754G>A (p.Arg585Gln)	PAMR1 (R545Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208274	NM_001001991.3(PAMR1):c.1721C>T (p.Thr574Ile)	PAMR1 (T463I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599054	NM_001001991.3(PAMR1):c.1712G>A (p.Arg571His)	PAMR1 (R531H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356518	NM_001001991.3(PAMR1):c.1711C>T (p.Arg571Cys)	PAMR1 (R460C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304168	NM_001001991.3(PAMR1):c.1588G>A (p.Asp530Asn)	PAMR1 (D419N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593120	NM_001001991.3(PAMR1):c.1586G>A (p.Arg529Gln)	PAMR1 (R529Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325546	NM_001001991.3(PAMR1):c.1570T>G (p.Leu524Val)	PAMR1 (L541V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343790	NM_001001991.3(PAMR1):c.1540A>G (p.Met514Val)	PAMR1 (M514V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383947	NM_001001991.3(PAMR1):c.1420G>A (p.Gly474Arg)	PAMR1 (G434R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2921187	NM_001001991.3(PAMR1):c.1382G>A (p.Arg461His)	PAMR1 (R461H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2590809	NM_001001991.3(PAMR1):c.1313G>A (p.Arg438Gln)	PAMR1 (R327Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2207954	NM_001001991.3(PAMR1):c.1312C>T (p.Arg438Trp)	PAMR1 (R398W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208273	NM_001001991.3(PAMR1):c.1286G>A (p.Cys429Tyr)	PAMR1 (C429Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208272	NM_001001991.3(PAMR1):c.1262G>A (p.Arg421His)	PAMR1 (R310H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304169	NM_001001991.3(PAMR1):c.1258C>T (p.Arg420Cys)	PAMR1 (R309C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253042	NM_001001991.3(PAMR1):c.1177G>A (p.Ala393Thr)	PAMR1 (A282T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342553	NM_001001991.3(PAMR1):c.1129G>A (p.Ala377Thr)	PAMR1 (A266T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313846	NM_001001991.3(PAMR1):c.1076T>A (p.Val359Asp)	PAMR1 (V248D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304167	NM_001001991.3(PAMR1):c.1034C>T (p.Ala345Val)	PAMR1 (A234V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208271	NM_001001991.3(PAMR1):c.987C>G (p.Cys329Trp)	PAMR1 (C329W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330163	NM_001001991.3(PAMR1):c.980G>T (p.Arg327Ile)	PAMR1 (R327I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372427	NM_001001991.3(PAMR1):c.928G>A (p.Val310Met)	PAMR1 (V310M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378906	NM_001001991.3(PAMR1):c.907C>T (p.Arg303Cys)	PAMR1 (R192C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208287	NM_001001991.3(PAMR1):c.863A>G (p.Asn288Ser)	PAMR1 (N248S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304170	NM_001001991.3(PAMR1):c.851G>T (p.Gly284Val)	PAMR1 (G301V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208286	NM_001001991.3(PAMR1):c.847C>A (p.Pro283Thr)	PAMR1 (P172T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601711	NM_001001991.3(PAMR1):c.809G>A (p.Arg270His)	PAMR1 (R159H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208285	NM_001001991.3(PAMR1):c.682G>A (p.Gly228Ser)	PAMR1 (G228S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208283	NM_001001991.3(PAMR1):c.679G>A (p.Asp227Asn)	PAMR1 (D227N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513674	NM_001001991.3(PAMR1):c.631G>C (p.Gly211Arg)	PAMR1 (G171R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208282	NM_001001991.3(PAMR1):c.607C>T (p.Arg203Trp)	PAMR1 (R163W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223961	NM_001001991.3(PAMR1):c.553C>T (p.Arg185Cys)	PAMR1 (R185C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208281	NM_001001991.3(PAMR1):c.542A>C (p.Tyr181Ser)	PAMR1 (Y141S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236497	NM_001001991.3(PAMR1):c.542A>G (p.Tyr181Cys)	PAMR1 (Y181C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307253	NM_001001991.3(PAMR1):c.520G>T (p.Asp174Tyr)	PAMR1 (D134Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208280	NM_001001991.3(PAMR1):c.488A>G (p.Gln163Arg)	PAMR1 (Q163R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235100	NM_001001991.3(PAMR1):c.266A>C (p.Glu89Ala)	PAMR1 (E89A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508682	NM_001001991.3(PAMR1):c.160G>A (p.Val54Ile)	PAMR1 (V14I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619368	NM_001001991.3(PAMR1):c.121A>G (p.Met41Val)	PAMR1 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595471	NM_001001991.3(PAMR1):c.46C>G (p.Leu16Val)	PAMR1 (L16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208279	NM_001001991.3(PAMR1):c.35C>T (p.Thr12Ile)	PAMR1 (T12I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208278	NM_001001991.3(PAMR1):c.35C>G (p.Thr12Ser)	PAMR1 (T12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607245	NM_001001991.3(PAMR1):c.14G>A (p.Cys5Tyr)	PAMR1 (C5Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684640	GRCh37/hg19 11p13(chr11:35516838-35724011)x3	FJX1, PAMR1 +1 more	Copy number gain	not provided	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 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	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 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	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

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Items: 74