FOXN4[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 2589212	NM_213596.3(FOXN4):c.1472C>T (p.Pro491Leu)	FOXN4 (P491L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369613	NM_213596.3(FOXN4):c.1406C>T (p.Ser469Leu)	FOXN4 (S469L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314721	NM_213596.3(FOXN4):c.1391G>T (p.Gly464Val)	FOXN4 (G464V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216758	NM_213596.3(FOXN4):c.1390G>A (p.Gly464Ser)	FOXN4 (G464S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096527	NM_213596.3(FOXN4):c.1348G>A (p.Ala450Thr)	FOXN4 (A450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348664	NM_213596.3(FOXN4):c.1285G>A (p.Ala429Thr)	FOXN4 (A429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300895	NM_213596.3(FOXN4):c.1264G>A (p.Asp422Asn)	FOXN4 (D422N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205830	NM_213596.3(FOXN4):c.1237G>A (p.Asp413Asn)	FOXN4 (D413N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096526	NM_213596.3(FOXN4):c.1192C>A (p.Pro398Thr)	FOXN4 (P398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353678	NM_213596.3(FOXN4):c.1163C>T (p.Pro388Leu)	FOXN4 (P388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280921	NM_213596.3(FOXN4):c.1111C>G (p.Leu371Val)	FOXN4 (L371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279637	NM_213596.3(FOXN4):c.1106C>T (p.Ala369Val)	FOXN4 (A369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096525	NM_213596.3(FOXN4):c.1084C>T (p.His362Tyr)	FOXN4 (H362Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096524	NM_213596.3(FOXN4):c.1063T>C (p.Ser355Pro)	FOXN4 (S355P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096523	NM_213596.3(FOXN4):c.1016G>C (p.Gly339Ala)	FOXN4 (G339A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537740	NM_213596.3(FOXN4):c.983T>C (p.Leu328Pro)	FOXN4 (L328P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482173	NM_213596.3(FOXN4):c.976C>T (p.Pro326Ser)	FOXN4 (P326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096536	NM_213596.3(FOXN4):c.965A>G (p.Glu322Gly)	FOXN4 (E322G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096535	NM_213596.3(FOXN4):c.952G>A (p.Gly318Ser)	FOXN4 (G318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345835	NM_213596.3(FOXN4):c.946C>T (p.Arg316Cys)	FOXN4 (R316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280922	NM_213596.3(FOXN4):c.927C>G (p.Asp309Glu)	FOXN4 (D309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096534	NM_213596.3(FOXN4):c.872C>A (p.Ala291Asp)	FOXN4 (A291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233421	NM_213596.3(FOXN4):c.871G>A (p.Ala291Thr)	FOXN4 (A291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229741	NM_213596.3(FOXN4):c.787C>T (p.Arg263Cys)	FOXN4 (R263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228684	NM_213596.3(FOXN4):c.769A>C (p.Lys257Gln)	FOXN4 (K257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381706	NM_213596.3(FOXN4):c.695C>T (p.Thr232Met)	FOXN4 (T232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096533	NM_213596.3(FOXN4):c.652G>A (p.Glu218Lys)	FOXN4 (E218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096532	NM_213596.3(FOXN4):c.559C>T (p.His187Tyr)	FOXN4 (H187Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517310	NM_213596.3(FOXN4):c.557T>G (p.Leu186Arg)	FOXN4 (L186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096531	NM_213596.3(FOXN4):c.508C>T (p.Arg170Trp)	FOXN4 (R170W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403431	NM_213596.3(FOXN4):c.491G>A (p.Gly164Asp)	FOXN4 (G164D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096530	NM_213596.3(FOXN4):c.455C>T (p.Pro152Leu)	FOXN4 (P152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096529	NM_213596.3(FOXN4):c.446C>T (p.Pro149Leu)	FOXN4 (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595354	NM_213596.3(FOXN4):c.407C>T (p.Pro136Leu)	FOXN4 (P136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570348	NM_213596.3(FOXN4):c.373G>A (p.Val125Met)	FOXN4 (V125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556356	NM_213596.3(FOXN4):c.278G>A (p.Ser93Asn)	FOXN4 (S93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340373	NM_213596.3(FOXN4):c.187G>T (p.Gly63Cys)	FOXN4 (G63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244660	NM_213596.3(FOXN4):c.170T>C (p.Leu57Pro)	FOXN4 (L57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400398	NM_213596.3(FOXN4):c.121G>A (p.Gly41Arg)	FOXN4 (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248700	NM_213596.3(FOXN4):c.83A>G (p.Tyr28Cys)	FOXN4 (Y28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 815553	GRCh37/hg19 12q24.11(chr12:109199902-110267493)x3	UBE3B, FOXN4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 442495	GRCh37/hg19 12q24.11(chr12:109190922-109989416)x3	ACACB, ALKBH2 +9 more	Copy number gain	See cases	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +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	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 51