Related gene-specific medical variations for Gene (Select 254050) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3120719	NM_001098519.2(LRRC43):c.47G>T (p.Gly16Val)	LOC130009036, LRRC43 (G16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120718	NM_001098519.2(LRRC43):c.41A>G (p.Glu14Gly)	LOC130009036, LRRC43 (E14G)	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 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 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 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 2620368	NM_001098519.2(LRRC43):c.25T>A (p.Ser9Thr)	LOC130009036, LRRC43 (S9T)	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 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 2540086	NM_001098519.2(LRRC43):c.1947G>T (p.Glu649Asp)	LOC130009038, LRRC43 (E464D +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 2211372	NM_001098519.2(LRRC43):c.64C>T (p.Pro22Ser)	LOC130009036, LRRC43 (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance