ClinVar for MedGen (Select 2568) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321244	NM_001145306.2(CDK6):c.*5310T>C	CDK6	Single nucleotide variant (3 prime UTR variant)	Behcet disease	Gassociation
Select item 1321243	NM_001145306.2(CDK6):c.647+21377A>G	CDK6	Single nucleotide variant (intron variant)	Behcet disease	Gassociation
Select item 916547	NM_003855.5(IL18R1):c.59-1038C>A	IL18R1	Single nucleotide variant (intron variant)	Behcet disease	Gassociation
Select item 916546	NM_003855.5(IL18R1):c.-29+1269C>T	IL18R1	Single nucleotide variant (intron variant)	Behcet disease +1 more	GBenign; association
Select item 916545	NM_003855.5(IL18R1):c.-29+2476T>G	IL18R1	Single nucleotide variant (intron variant)	Behcet disease	Gassociation
Select item 430715	NM_000243.3(MEFV):c.332G>A (p.Gly111Glu)	MEFV (G111E)	Single nucleotide variant (missense variant +1 more)	Behcet disease	GPathogenic
Select item 430693	NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile)	ADA2 (V307I +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 378735	NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)	TNFRSF1A (R312K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 375253	NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)	MEFV (L367V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 375252	NM_000243.3(MEFV):c.1211A>G (p.His404Arg)	MEFV (H404R +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +1 more	GUncertain significance
Select item 375251	NM_001282225.2(ADA2):c.740C>T (p.Ala247Val)	ADA2 (A205V +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 375247	NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)	ADA2 (M267I +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 375246	NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp)	ADA2 (R49W +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 317171	NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met)	PSTPIP1 (T68M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 280942	NM_003978.5(PSTPIP1):c.865G>C (p.Asp289His)	PSTPIP1 (D289H +2 more)	Single nucleotide variant (missense variant +1 more)	Behcet disease	GPathogenic
Select item 280941	NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile)	PSTPIP1 (V122I +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 268134	NM_001370466.1(NOD2):c.964C>T (p.Leu322Phe)	NOD2 (L349F +1 more)	Single nucleotide variant (missense variant +1 more)	Behcet disease	GPathogenic
Select item 267320	NM_022162.2(NOD2):c.241C>G (p.Leu81Val)	NOD2 (L81V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 267319	NM_022162.2(NOD2):c.2197G>T (p.Val733Leu)	NOD2 (V733L +1 more)	Single nucleotide variant (missense variant +1 more)	Behcet disease	GPathogenic
Select item 267318	NM_001065.3(TNFRSF1A):c.463C>T (p.His155Tyr)	TNFRSF1A (H155Y +1 more)	Single nucleotide variant (missense variant +2 more)	Behcet disease	GPathogenic
Select item 267317	NM_022162.2(NOD2):c.2446G>A	NOD2 (V816I +1 more)	Single nucleotide variant (missense variant +1 more)	Behcet disease	GPathogenic
Select item 234423	NM_001065.4(TNFRSF1A):c.596T>C (p.Ile199Thr)	TNFRSF1A (I199T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 22