3344[Gene ID] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +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 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 2211543	NM_002158.4(FOXN2):c.125C>G (p.Pro42Arg)	FOXN2 (P42R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533283	NM_002158.4(FOXN2):c.247A>C (p.Ser83Arg)	FOXN2 (S83R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308498	NM_002158.4(FOXN2):c.254T>G (p.Leu85Trp)	FOXN2 (L85W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617740	NM_002158.4(FOXN2):c.359T>C (p.Leu120Pro)	FOXN2 (L120P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 770869	NM_002158.4(FOXN2):c.522A>G (p.Glu174=)	FOXN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2259523	NM_002158.4(FOXN2):c.572C>T (p.Pro191Leu)	FOXN2 (P191L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213997	NM_002158.4(FOXN2):c.587A>G (p.Asn196Ser)	FOXN2 (N196S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510454	NM_002158.4(FOXN2):c.692G>A (p.Arg231Gln)	FOXN2 (R231Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2241527	NM_002158.4(FOXN2):c.735G>A (p.Met245Ile)	FOXN2 (M245I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2485441	NM_002158.4(FOXN2):c.748T>A (p.Ser250Thr)	FOXN2 (S250T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2614607	NM_002158.4(FOXN2):c.799G>A (p.Ala267Thr)	FOXN2 (A267T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2462533	NM_002158.4(FOXN2):c.803T>C (p.Leu268Ser)	FOXN2 (L268S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2613157	NM_002158.4(FOXN2):c.836A>G (p.His279Arg)	FOXN2 (H279R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2368708	NM_002158.4(FOXN2):c.857T>C (p.Leu286Ser)	FOXN2 (L286S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2525564	NM_002158.4(FOXN2):c.890A>G (p.Asp297Gly)	FOXN2 (D297G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 786762	NM_002158.4(FOXN2):c.945A>T (p.Ala315=)	FOXN2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2325279	NM_002158.4(FOXN2):c.967C>G (p.Leu323Val)	FOXN2 (L323V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2620965	NM_002158.4(FOXN2):c.1015G>A (p.Val339Met)	FOXN2 (V339M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2243498	NM_002158.4(FOXN2):c.1231C>T (p.Arg411Cys)	FOXN2 (R411C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2411581	NM_002158.4(FOXN2):c.1286G>A (p.Arg429Gln)	FOXN2 (R429Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1399732	NC_000002.11:g.(?_48018046)_(50170949_?)dup	FBXO11, FOXN2 +8 more	Duplication	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 1041513	NC_000002.11:g.(?_47672677)_(51259192_?)dup	FBXO11, FOXN2 +11 more	Duplication	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 996705	Single allele	FBXO11, FOXN2 +2 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 979344	GRCh37/hg19 2p16.3(chr2:48509668-48619172)x1	FOXN2	Copy number loss	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442274	GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1	ACYP2, ASB3 +25 more	Copy number loss	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394538	GRCh37/hg19 2p16.3(chr2:48500265-49197158)x1	FOXN2, FSHR +5 more	Copy number loss	See cases	GUncertain significance

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Items: 40