ClinVar for MedGen (Select 1648422) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690559	NM_001013838.3(CARMIL2):c.1753_1754del (p.Gln585fs)	CARMIL2 (Q549fs +1 more)	Deletion (frameshift variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GLikely pathogenic
Select item 2671920	NM_001013838.3(CARMIL2):c.1681C>T (p.Arg561Trp)	CARMIL2 (R525W +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 2585317	NM_001013838.3(CARMIL2):c.1528C>T (p.Gln510Ter)	CARMIL2 (Q510* +1 more)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency due to CARMIL2 deficiency	GLikely pathogenic
Select item 2500011	NM_001013838.3(CARMIL2):c.1546G>A (p.Val516Met)	CARMIL2 (V480M +1 more)	Single nucleotide variant (missense variant)	CARMIL2-related condition +1 more	GUncertain significance
Select item 2439755	NM_001013838.3(CARMIL2):c.3444TGG[1] (p.Gly1150del)	CARMIL2 (G1114del +1 more)	Microsatellite (inframe_deletion)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 2439754	NM_001013838.3(CARMIL2):c.323C>G (p.Ala108Gly)	CARMIL2 (A108G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 1705623	NM_001013838.3(CARMIL2):c.473T>G (p.Phe158Cys)	CARMIL2 (F158C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 1676252	NM_001013838.3(CARMIL2):c.926T>C (p.Leu309Pro)	CARMIL2 (L309P)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 1613154	NM_001013838.3(CARMIL2):c.1509+14C>A	CARMIL2	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GBenign/Likely benign
Select item 1585289	NM_001013838.3(CARMIL2):c.1308C>G (p.Asp436Glu)	CARMIL2 (D400E +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1581961	NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu)	CARMIL2 (D482E +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1539447	NM_001013838.3(CARMIL2):c.3894G>A (p.Ala1298=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1448554	NM_001013838.3(CARMIL2):c.1937G>A (p.Arg646Gln)	CARMIL2 (R646Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1339528	NM_001013838.3(CARMIL2):c.1334+1G>T	CARMIL2	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GLikely pathogenic
Select item 1333422	NM_001013838.3(CARMIL2):c.2313+1G>A	CARMIL2	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GLikely pathogenic
Select item 1327958	NM_001013838.3(CARMIL2):c.688-32C>T	CARMIL2	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GBenign
Select item 1317831	NM_001013838.3(CARMIL2):c.4195+39C>T	ACD, CARMIL2	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GBenign/Likely benign
Select item 1177520	NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter)	CARMIL2 (R174*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1166790	NM_001013838.3(CARMIL2):c.1440-8T>C	CARMIL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1164990	NM_001013838.3(CARMIL2):c.3221+20T>C	CARMIL2	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GBenign/Likely benign
Select item 1063548	NM_001013838.3(CARMIL2):c.226G>A (p.Ala76Thr)	CARMIL2 (A76T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency +1 more	GUncertain significance
Select item 1028934	NM_001013838.3(CARMIL2):c.745G>A (p.Glu249Lys)	CARMIL2 (E249K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 1028933	NM_001013838.3(CARMIL2):c.3827G>A (p.Arg1276Lys)	CARMIL2 (R1240K +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 982945	NM_001013838.3(CARMIL2):c.958+1G>C	CARMIL2	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GLikely pathogenic
Select item 977751	NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs)	CARMIL2 (K559fs +1 more)	Deletion (frameshift variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GPathogenic
Select item 565285	NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)	CARMIL2 (R50T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GLikely pathogenic
Select item 565284	NM_001013838.3(CARMIL2):c.2536_2548del (p.Leu846fs)	CARMIL2 (L810fs +1 more)	Deletion (frameshift variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GPathogenic
Select item 565281	NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)	CARMIL2 (L639H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 565280	NM_001013838.3(CARMIL2):c.2557C>T (p.Gln853Ter)	CARMIL2 (Q853* +1 more)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency due to CARMIL2 deficiency	GPathogenic
Select item 565279	NM_001013838.3(CARMIL2):c.1574T>A (p.Leu525Gln)	CARMIL2 (L525Q +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GPathogenic
Select item 565278	NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg)	CARMIL2 (L372R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GLikely pathogenic
Select item 266036	NM_001013838.3(CARMIL2):c.871+1G>T	CARMIL2	Single nucleotide variant (splice donor variant)	Combined immunodeficiency +1 more	GPathogenic
Select item 266035	NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs)	CARMIL2 (A164fs)	Duplication (frameshift variant)	Combined immunodeficiency +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 33