LOC100506235[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 150869	GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3	BCYRN1, CALM2 +60 more	Copy number gain	See cases	GLikely pathogenic
Select item 1180438	NC_000002.12:g.47804639_48361567dup	FBXO11, FOXN2 +17 more	Duplication	See cases	Gnot provided
Select item 58367	GRCh38/hg38 2p16.3(chr2:47832570-48405178)x1	FBXO11, FOXN2 +14 more	Copy number loss	See cases	GUncertain significance
Select item 2746463	NM_001190274.2(FBXO11):c.149_196del (p.Gln50_Pro65del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1613329	NM_001190274.2(FBXO11):c.147_182del (p.Gln50_Pro61del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2903319	NM_001190274.2(FBXO11):c.171_179del (p.Pro64_Pro66del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2874679	NM_001190274.2(FBXO11):c.171T>C (p.Pro57=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1616116	NM_001190274.2(FBXO11):c.171T>G (p.Pro57=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474259	NM_001190274.2(FBXO11):c.162_170dup (p.Gln55_Pro57dup)	FBXO11, LOC100506235	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1902681	NM_001190274.2(FBXO11):c.149AGC[11] (p.Gln56_Pro57insGlnGlnGlnGln)	FBXO11, LOC100506235	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1569806	NM_001190274.2(FBXO11):c.149AGC[9] (p.Gln55_Gln56dup)	FBXO11, LOC100506235	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1533430	NM_001190274.2(FBXO11):c.149AGC[10] (p.Gln54_Gln56dup)	FBXO11, LOC100506235	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1392187	NM_001190274.2(FBXO11):c.170C>A (p.Pro57His)	FBXO11, LOC100506235 (P57H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359517	NM_001190274.2(FBXO11):c.169_170insAGCCTCCGCCGCCGCCGCAGCAGCAGCAGCAGCAGCAGCAGC (p.50_56Q[8]P[5]Q[8])	FBXO11, LOC100506235	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 975697	NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup)	LOC100506235, FBXO11	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2045675	NM_001190274.2(FBXO11):c.169C>G (p.Pro57Ala)	FBXO11, LOC100506235 (P57A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1656377	NM_001190274.2(FBXO11):c.149AGC[4] (p.Gln54_Gln56del)	FBXO11, LOC100506235	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 1533284	NM_001190274.2(FBXO11):c.149AGC[5] (p.Gln55_Gln56del)	FBXO11, LOC100506235	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1412969	NM_001190274.2(FBXO11):c.149AGC[6] (p.Gln56del)	FBXO11, LOC100506235 (Q56del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2779801	NM_001190274.2(FBXO11):c.168G>A (p.Gln56=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1516709	NM_001190274.2(FBXO11):c.167A>C (p.Gln56Pro)	FBXO11, LOC100506235 (Q56P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3001135	NM_001190274.2(FBXO11):c.134_166del (p.Pro45_Gln55del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1709225	NM_001190274.2(FBXO11):c.166C>T (p.Gln56Ter)	FBXO11, LOC100506235 (Q56*)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2844735	NM_001190274.2(FBXO11):c.165G>A (p.Gln55=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1483659	NM_001190274.2(FBXO11):c.162G>T (p.Gln54His)	FBXO11, LOC100506235 (Q54H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873662	NM_001190274.2(FBXO11):c.160_161insCGCCCC (p.Gln53_Gln54insProPro)	FBXO11, LOC100506235	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1801904	NM_001190274.2(FBXO11):c.160_161insCTCCGCCGCCGCCGCCGCAGC (p.Gln53_Gln54insProProProProProProGln)	FBXO11, LOC100506235	Insertion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1583725	NM_001190274.2(FBXO11):c.134_160del (p.Pro45_Gln53del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1422785	NM_001190274.2(FBXO11):c.134_157dup (p.Pro45_Gln52dup)	FBXO11, LOC100506235	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 1590735	NM_001190274.2(FBXO11):c.134_157del (p.Pro45_Gln52del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2115995	NM_001190274.2(FBXO11):c.134_154dup (p.Gln51_Gln52insProProProProProGlnGln)	FBXO11, LOC100506235	Duplication (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1622354	NM_001190274.2(FBXO11):c.134_154del (p.Pro45_Gln51del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2873663	NM_001190274.2(FBXO11):c.151_152insCGCCCC (p.Gln50_Gln51insProPro)	FBXO11, LOC100506235	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1909700	NM_001190274.2(FBXO11):c.151_152insCGC (p.Gln50_Gln51insPro)	FBXO11, LOC100506235	Insertion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1435514	NM_001190274.2(FBXO11):c.152A>C (p.Gln51Pro)	FBXO11, LOC100506235 (Q51P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1543244	NM_001190274.2(FBXO11):c.137CGC[5] (p.Pro49dup)	FBXO11, LOC100506235	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1509900	NM_001190274.2(FBXO11):c.123_149del (p.Pro45_Gln53del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1478867	NM_001190274.2(FBXO11):c.148_149insCGCAGC (p.Pro49_Gln50insProGln)	FBXO11, LOC100506235	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 1297476	NM_001190274.2(FBXO11):c.149A>G (p.Gln50Arg)	FBXO11, LOC100506235 (Q50R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 1164883	NM_001190274.2(FBXO11):c.149A>C (p.Gln50Pro)	FBXO11, LOC100506235 (Q50P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2809789	NM_001190274.2(FBXO11):c.107_148del (p.Pro36_Pro49del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2062940	NM_001190274.2(FBXO11):c.123_146dup (p.Gln52_Gln53insProProProProProGlnGlnGln)	FBXO11, LOC100506235	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1992913	NM_001190274.2(FBXO11):c.120_146delinsTCCGCCGCCGCCGCAGCAGCAGCA (p.Gln42_Pro49delinsProProProGlnGlnGlnGln)	FBXO11, LOC100506235	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1671121	NM_001190274.2(FBXO11):c.120_146delinsTCCGCCGCCGCCGCA (p.Gln42_Pro49delinsProProProGln)	FBXO11, LOC100506235	Indel (inframe_indel)	not provided	GLikely benign
Select item 1617551	NM_001190274.2(FBXO11):c.123_146del (p.Pro45_Gln52del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1319283	NM_001190274.2(FBXO11):c.146C>A (p.Pro49Gln)	FBXO11, LOC100506235 (P49Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1435679	NM_001190274.2(FBXO11):c.145C>T (p.Pro49Ser)	FBXO11, LOC100506235 (P49S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184380	NM_001190274.2(FBXO11):c.135_143del (p.Pro47_Pro49del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1964897	NM_001190274.2(FBXO11):c.123_143del (p.Gln42_Pro48del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1624029	NM_001190274.2(FBXO11):c.143C>T (p.Pro48Leu)	FBXO11, LOC100506235 (P48L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1935639	NM_001190274.2(FBXO11):c.135_140dup (p.Pro49_Gln50insProPro)	LOC100506235, FBXO11	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1933271	NM_001190274.2(FBXO11):c.141G>C (p.Pro47=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2804289	NM_001190274.2(FBXO11):c.140C>T (p.Pro47Leu)	FBXO11, LOC100506235 (P47L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2704756	NM_001190274.2(FBXO11):c.131_139del (p.Gln44_Pro46del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2026353	NM_001190274.2(FBXO11):c.139C>T (p.Pro47Ser)	FBXO11, LOC100506235 (P47S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1390781	NM_001190274.2(FBXO11):c.137C>T (p.Pro46Leu)	FBXO11, LOC100506235 (P46L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302054	NM_001190274.2(FBXO11):c.137C>G (p.Pro46Arg)	FBXO11, LOC100506235 (P46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594199	NM_001190274.2(FBXO11):c.125_136del (p.Gln42_Pro45del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2770588	NM_001190274.2(FBXO11):c.129_134dup (p.Pro45_Pro46insGlnPro)	FBXO11, LOC100506235	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1577756	NM_001190274.2(FBXO11):c.135T>G (p.Pro45=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532921	NM_001190274.2(FBXO11):c.105GCCCCAGCAGCAGCC[3] (p.37QQQPP[3])	FBXO11, LOC100506235	Microsatellite (inframe_insertion)	not provided +1 more	GLikely benign
Select item 2070185	NM_001190274.2(FBXO11):c.134C>G (p.Pro45Arg)	FBXO11, LOC100506235 (P45R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1078575	NM_001190274.2(FBXO11):c.105GCCCCAGCAGCAGCC[1] (p.37QQQPP[1])	FBXO11, LOC100506235	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1529721	NM_001190274.2(FBXO11):c.133C>T (p.Pro45Ser)	FBXO11, LOC100506235 (P45S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1610567	NM_001190274.2(FBXO11):c.132G>A (p.Gln44=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903106	NM_001190274.2(FBXO11):c.119_130del (p.Pro40_Gln43del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1799565	NM_001190274.2(FBXO11):c.130C>T (p.Gln44Ter)	FBXO11, LOC100506235 (Q44*)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2168631	NM_001190274.2(FBXO11):c.129G>A (p.Gln43=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2992082	NM_001190274.2(FBXO11):c.125A>C (p.Gln42Pro)	FBXO11, LOC100506235 (Q42P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1031217	NM_001190274.2(FBXO11):c.125A>G (p.Gln42Arg)	FBXO11, LOC100506235 (Q42R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2074103	NM_001190274.2(FBXO11):c.96_122dup (p.Pro41_Gln42insProGlnProProGlnGlnGlnProPro)	FBXO11, LOC100506235	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1644173	NM_001190274.2(FBXO11):c.123C>A (p.Pro41=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351705	NM_001190274.2(FBXO11):c.123C>G (p.Pro41=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965259	NM_001190274.2(FBXO11):c.122C>T (p.Pro41Leu)	FBXO11, LOC100506235 (P41L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2148918	NM_001190274.2(FBXO11):c.99_122del (p.Pro35_Gln42del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1610405	NM_001190274.2(FBXO11):c.96_122del (p.Pro33_Pro41del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1353895	NM_001190274.2(FBXO11):c.117GCC[1] (p.Pro41del)	FBXO11, LOC100506235 (P41del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1577890	NM_001190274.2(FBXO11):c.120G>T (p.Pro40=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534378	NM_001190274.2(FBXO11):c.120G>A (p.Pro40=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200626	NM_001190274.2(FBXO11):c.77_118dup (p.Gln39_Pro40insGlnProProGlnGlnProProProGlnProProGlnGlnGln)	FBXO11, LOC100506235	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2030620	NM_001190274.2(FBXO11):c.77_118del (p.Gln26_Gln39del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2875856	NM_001190274.2(FBXO11):c.92_115del (p.Pro31_Gln38del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3002407	NM_001190274.2(FBXO11):c.104_112dup (p.Gln37_Gln38insProProGln)	LOC100506235, FBXO11	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2902078	NM_001190274.2(FBXO11):c.98_112del (p.Pro33_Gln37del)	LOC100506235, FBXO11	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1465523	NM_001190274.2(FBXO11):c.104_112del (p.32PPQ[1])	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2707708	NM_001190274.2(FBXO11):c.110A>T (p.Gln37Leu)	FBXO11, LOC100506235 (Q37L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1550385	NM_001190274.2(FBXO11):c.83_109del (p.Pro28_Pro36del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1031216	NM_001190274.2(FBXO11):c.107C>T (p.Pro36Leu)	FBXO11, LOC100506235 (P36L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 975696	NM_001190274.2(FBXO11):c.96_107del (p.Pro33_Pro36del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided +1 more	GLikely benign
Select item 1976160	NM_001190274.2(FBXO11):c.106C>T (p.Pro36Ser)	FBXO11, LOC100506235 (P36S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3016079	NM_001190274.2(FBXO11):c.105G>C (p.Pro35=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2908641	NM_001190274.2(FBXO11):c.105G>A (p.Pro35=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1609984	NM_001190274.2(FBXO11):c.105G>T (p.Pro35=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077550	NM_001190274.2(FBXO11):c.104C>T (p.Pro35Leu)	FBXO11, LOC100506235 (P35L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1625499	NM_001190274.2(FBXO11):c.89_103del (p.Gln30_Gln34del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign

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