ClinVar for Gene (Select 2519) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2605444	NM_032020.5(FUCA2):c.1081A>G (p.Lys361Glu)	FUCA2 (K361E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556450	NM_032020.5(FUCA2):c.1085T>G (p.Val362Gly)	FUCA2 (V362G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479623	NM_032020.5(FUCA2):c.967C>A (p.Leu323Ile)	FUCA2 (L323I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
Select item 2412285	NM_032020.5(FUCA2):c.248T>C (p.Ile83Thr)	FUCA2 (I83T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404424	NM_032020.5(FUCA2):c.74C>T (p.Pro25Leu)	FUCA2 (P25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396537	NM_032020.5(FUCA2):c.701C>T (p.Pro234Leu)	FUCA2 (P234L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393489	NM_032020.5(FUCA2):c.62T>C (p.Leu21Pro)	FUCA2 (L21P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391584	NM_032020.5(FUCA2):c.1129A>C (p.Asn377His)	FUCA2 (N377H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372135	NM_032020.5(FUCA2):c.1385C>G (p.Ala462Gly)	FUCA2 (A462G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316075	NM_032020.5(FUCA2):c.550T>C (p.Phe184Leu)	FUCA2 (F184L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315521	NM_032020.5(FUCA2):c.920A>T (p.Glu307Val)	FUCA2 (E307V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246538	NM_032020.5(FUCA2):c.356A>G (p.Asp119Gly)	FUCA2 (D119G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233472	NM_032020.5(FUCA2):c.110C>T (p.Thr37Ile)	FUCA2 (T37I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221347	NM_032020.5(FUCA2):c.838C>T (p.Arg280Cys)	FUCA2 (R280C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808164	GRCh37/hg19 6q24.2(chr6:143645794-143860372)x3	ADAT2, AIG1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527299	GRCh37/hg19 6q24.2-24.3(chr6:143331663-145817051)	ADAT2, AIG1 +10 more	Copy number gain	not specified	GPathogenic
Select item 1071172	NC_000006.11:g.(?_143772160)_(144508648_?)del	PEX3, PHACTR2 +7 more	Deletion	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 1056147	NC_000006.11:g.(?_143771700)_(144086935_?)dup	ADAT2, FUCA2 +2 more	Duplication	not provided	GUncertain significance
Select item 832557	NC_000006.12:g.(?_143333282)_(143511634_?)dup	ADAT2, AIG1 +2 more	Duplication	not provided	GUncertain significance
Select item 785194	NM_032020.5(FUCA2):c.413-5T>C	FUCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785193	NM_032020.5(FUCA2):c.964-7T>A	FUCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 722340	NM_032020.5(FUCA2):c.243A>G (p.Glu81=)	FUCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716073	NM_032020.5(FUCA2):c.1149T>C (p.Asp383=)	FUCA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 623453	NM_032020.5(FUCA2):c.208G>A (p.Gly70Ser)	FUCA2 (G70S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38