ClinVar for Gene (Select 4753) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2618013	NM_001145108.2(NELL2):c.2311A>G (p.Lys771Glu)	NELL2 (K821E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611953	NM_001145108.2(NELL2):c.212C>T (p.Thr71Ile)	NELL2 (T121I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558214	NM_001145108.2(NELL2):c.188C>T (p.Thr63Ile)	NELL2 (T113I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555787	NM_001145108.2(NELL2):c.1141G>C (p.Glu381Gln)	NELL2 (E404Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553999	NM_001145108.2(NELL2):c.2032G>A (p.Asp678Asn)	NELL2 (D677N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529036	NM_001145108.2(NELL2):c.1601C>T (p.Ala534Val)	NELL2 (A533V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515982	NM_001145108.2(NELL2):c.155A>G (p.His52Arg)	NELL2 (H102R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512109	NM_001145108.2(NELL2):c.1273C>G (p.Arg425Gly)	NELL2 (R424G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511737	NM_001145108.2(NELL2):c.146C>T (p.Pro49Leu)	NELL2 (P72L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462375	NM_001145108.2(NELL2):c.1469A>G (p.Gln490Arg)	NELL2 (Q540R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460855	NM_001145108.2(NELL2):c.841T>C (p.Tyr281His)	NELL2 (Y280H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456926	NM_001145108.2(NELL2):c.1324G>A (p.Asp442Asn)	NELL2 (D442N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454218	NM_001145108.2(NELL2):c.2330T>C (p.Met777Thr)	NELL2 (M800T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390847	NM_001145108.2(NELL2):c.1227G>T (p.Glu409Asp)	NELL2 (E409D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368620	NM_001145108.2(NELL2):c.982A>G (p.Lys328Glu)	NELL2 (K328E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357014	NM_001145108.2(NELL2):c.2055T>A (p.Asp685Glu)	NELL2 (D684E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356922	NM_001145108.2(NELL2):c.67G>A (p.Gly23Ser)	NELL2 (G23S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354022	NM_001145108.2(NELL2):c.1108G>A (p.Glu370Lys)	NELL2 (E393K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353106	NM_001145108.2(NELL2):c.1619T>C (p.Val540Ala)	NELL2 (V540A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351895	NM_001145108.2(NELL2):c.1343G>A (p.Arg448His)	NELL2 (R448H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333921	NM_001145108.2(NELL2):c.289C>T (p.His97Tyr)	NELL2 (H147Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323034	NM_001145108.2(NELL2):c.1783C>T (p.Pro595Ser)	NELL2 (P594S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321190	NM_001145108.2(NELL2):c.1991C>T (p.Ser664Leu)	NELL2 (S687L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319212	NM_001145108.2(NELL2):c.1896T>G (p.His632Gln)	NELL2 (H632Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315630	NM_001145108.2(NELL2):c.1072C>T (p.Leu358Phe)	NELL2 (L357F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284946	NM_001145108.2(NELL2):c.674A>G (p.Asn225Ser)	NELL2 (N224S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282575	NM_001145108.2(NELL2):c.2390G>A (p.Cys797Tyr)	NELL2 (C847Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273969	NM_001145108.2(NELL2):c.2021G>A (p.Arg674Gln)	NELL2 (R697Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267863	NM_001145108.2(NELL2):c.1886G>A (p.Arg629Gln)	NELL2 (R628Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257597	NM_001145108.2(NELL2):c.613A>C (p.Met205Leu)	NELL2 (M204L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236118	NM_001145108.2(NELL2):c.-23G>A	NELL2 (R16Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218456	NM_001145108.2(NELL2):c.1324G>T (p.Asp442Tyr)	NELL2 (D441Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208776	NM_001145108.2(NELL2):c.2159A>T (p.Gln720Leu)	NELL2 (Q770L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527707	GRCh37/hg19 12q12(chr12:45181335-45776599)	ANO6, DBX2 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979962	GRCh37/hg19 12q12(chr12:43953566-46197331)x3	DBX2, ANO6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563897	GRCh37/hg19 12q12(chr12:45097478-45169681)x1	NELL2	Copy number loss	not provided	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 155670	GRCh38/hg38 12q12(chr12:43477600-44820113)x4	ADAMTS20, IRAK4 +18 more	Copy number gain	See cases	GLikely benign
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 146347	GRCh38/hg38 12q12(chr12:43514638-44793576)x3	ADAMTS20, IRAK4 +18 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 49