IL31[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 150419	GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3	B3GNT4, BCL7A +57 more	Copy number gain	See cases	GUncertain significance
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 3109382	NM_001014336.2(IL31):c.451G>A (p.Ala151Thr)	IL31, LRRC43 (A151T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285869	NM_001014336.2(IL31):c.383C>T (p.Thr128Ile)	IL31, LRRC43 (T128I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248964	NM_001014336.2(IL31):c.376G>A (p.Val126Met)	IL31, LRRC43 (V126M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366827	NM_001014336.2(IL31):c.355G>A (p.Ala119Thr)	IL31, LRRC43 (A119T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308644	NM_001014336.2(IL31):c.319A>G (p.Ile107Val)	IL31, LRRC43 (I107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244453	NM_001014336.2(IL31):c.297C>A (p.Asp99Glu)	IL31, LRRC43 (D99E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559676	NM_001014336.2(IL31):c.293T>C (p.Leu98Pro)	IL31, LRRC43 (L98P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608419	NM_001014336.2(IL31):c.202T>C (p.Tyr68His)	IL31, LRRC43 (Y68H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109380	NM_001014336.2(IL31):c.183C>T (p.Gly61=)	IL31, LRRC43	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3109379	NM_001014336.2(IL31):c.183C>G (p.Gly61=)	IL31, LRRC43	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3109378	NM_001014336.2(IL31):c.163G>A (p.Asp55Asn)	IL31, LRRC43 (D55N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109377	NM_001014336.2(IL31):c.104G>A (p.Ser35Asn)	IL31, LRRC43 (S35N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301574	NM_001014336.2(IL31):c.101C>G (p.Pro34Arg)	IL31, LRRC43 (P34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109383	NM_001014336.2(IL31):c.85G>A (p.Val29Ile)	IL31, LRRC43 (V29I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109381	NM_001014336.2(IL31):c.26C>T (p.Thr9Met)	IL31, LRRC43 (T9M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ZCCHC8, ANAPC5 +24 more	Deletion	not provided	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 1527743	GRCh37/hg19 12q24.31(chr12:121882818-122666131)	BCL7A, CFAP251 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1328462	GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3	B3GNT4, BCL7A +25 more	Copy number gain	not provided	GUncertain significance
Select item 687858	GRCh37/hg19 12q24.31(chr12:122351591-122848069)x1	B3GNT4, BCL7A +8 more	Copy number loss	not provided	GUncertain significance
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 686027	GRCh37/hg19 12q24.31(chr12:122598025-122995374)x3	B3GNT4, CLIP1 +7 more	Copy number gain	not provided	GUncertain significance
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 394726	GRCh37/hg19 12q24.31(chr12:122614468-123019270)x3	CLIP1, DIABLO +8 more	Copy number gain	See cases	GUncertain significance
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: 43