TMIGD3[gene] - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 2243308	NM_020683.7(TMIGD3):c.991C>G (p.Pro331Ala)	ADORA3, TMIGD3 (P162A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246467	NM_020683.7(TMIGD3):c.854G>C (p.Arg285Pro)	ADORA3, TMIGD3 (R116P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338228	NM_020683.7(TMIGD3):c.793del (p.Trp265fs)	TMIGD3 (W184fs +2 more)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 2254119	NM_020683.7(TMIGD3):c.715C>T (p.Arg239Trp)	ADORA3, TMIGD3 (R239W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256319	NM_020683.7(TMIGD3):c.451A>G (p.Ile151Val)	ADORA3, TMIGD3 (I70V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381157	NM_020683.7(TMIGD3):c.419T>C (p.Met140Thr)	ADORA3, TMIGD3 (M59T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261144	NM_000677.4(ADORA3):c.681G>T (p.Lys227Asn)	ADORA3, TMIGD3 (K227N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242996	NM_000677.4(ADORA3):c.617A>T (p.Asn206Ile)	ADORA3, TMIGD3 (N206I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3035442	NM_000677.4(ADORA3):c.583G>A (p.Ala195Thr)	ADORA3, TMIGD3 (A195T +1 more)	Single nucleotide variant (missense variant +2 more)	ADORA3-related disorder	GLikely benign
Select item 3048814	NM_000677.4(ADORA3):c.566C>A (p.Pro189His)	ADORA3, TMIGD3 (P189H +1 more)	Single nucleotide variant (missense variant +2 more)	ADORA3-related disorder	GUncertain significance
Select item 1243184	NM_000677.3(ADORA3):c.-581G>A	TMIGD3, ADORA3	Single nucleotide variant (intron variant)	not provided	GBenign