"GeneDx"[submitter] AND "TMIE"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1239252	NM_001370524.1(TMIE):c.-66-4749dup	TMIE	Duplication (intron variant)	not provided	GBenign
Select item 1189555	NM_001370524.1(TMIE):c.-66-4749del	TMIE	Deletion (intron variant)	not provided	GLikely benign
Select item 1258770	NM_001370524.1(TMIE):c.-66-4757C>A	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213145	NM_001370524.1(TMIE):c.-66-4751C>G	TMIE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265561	NM_001370524.1(TMIE):c.-66-4533G>A	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262078	NM_001370524.1(TMIE):c.-66-4532C>A	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272920	NM_001370524.1(TMIE):c.-66-4531A>T	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345547	NM_147196.3(TMIE):c.-37C>A	TMIE	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1427527	NM_147196.3(TMIE):c.14C>G (p.Pro5Arg)	TMIE (P5R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 47959	NM_147196.3(TMIE):c.34G>T (p.Val12Leu)	TMIE (V12L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 47963	NM_147196.3(TMIE):c.40G>A (p.Gly14Ser)	TMIE (G14S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2310325	NM_147196.3(TMIE):c.49G>A (p.Ala17Thr)	TMIE (A17T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 817378	NM_147196.3(TMIE):c.58del (p.Val20fs)	TMIE (V20fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1214509	NM_147196.3(TMIE):c.59T>A (p.Val20Glu)	TMIE (V20E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 900353	NM_147196.3(TMIE):c.64C>T (p.Leu22Phe)	TMIE (L22F)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6 +1 more	GUncertain significance
Select item 372538	NM_147196.3(TMIE):c.92A>G (p.Glu31Gly)	TMIE (E31G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1214686	NM_147196.3(TMIE):c.93+70G>C	TMIE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274205	NM_147196.3(TMIE):c.94-305G>A	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251470	NM_147196.3(TMIE):c.94-291T>C	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181466	NM_147196.3(TMIE):c.94-123A>T	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181439	NM_147196.3(TMIE):c.94-88T>G	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244908	NM_147196.3(TMIE):c.94-31C>G	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253168	NM_147196.3(TMIE):c.94-25C>T	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 47956	NM_147196.3(TMIE):c.102G>A (p.Thr34=)	TMIE	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1418052	NM_147196.3(TMIE):c.122C>T (p.Pro41Leu)	TMIE (P41L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1175546	NM_147196.3(TMIE):c.148G>T (p.Val50Leu)	TMIE (V50L)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6 +1 more	GConflicting classifications of pathogenicity
Select item 2446297	NM_147196.3(TMIE):c.162G>A (p.Met54Ile)	TMIE (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 165459	NM_147196.3(TMIE):c.174C>T (p.His58=)	TMIE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 165460	NM_147196.3(TMIE):c.191C>T (p.Ser64Leu)	TMIE (S64L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 901505	NM_147196.3(TMIE):c.192G>A (p.Ser64=)	TMIE	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 6 +1 more	GConflicting classifications of pathogenicity
Select item 287642	NM_147196.3(TMIE):c.206C>T (p.Ser69Phe)	TMIE (S69F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2572747	NM_147196.3(TMIE):c.211+1G>C	TMIE	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504683	NM_147196.3(TMIE):c.211+5G>A	TMIE	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1211355	NM_147196.3(TMIE):c.211+60C>T	TMIE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276955	NM_147196.3(TMIE):c.212-160T>C	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286762	NM_147196.3(TMIE):c.212-63G>A	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 505528	NM_147196.3(TMIE):c.218C>T (p.Thr73Met)	TMIE (T73M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 228014	NM_147196.3(TMIE):c.219G>A (p.Thr73=)	TMIE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3390	NM_147196.3(TMIE):c.241C>T (p.Arg81Cys)	TMIE (R81C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515000	NM_147196.3(TMIE):c.367AAG[11] (p.Lys130_Lys131dup)	TMIE	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 179307	NM_147196.3(TMIE):c.367AAG[10] (p.Lys131dup)	TMIE	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 47960	NM_147196.3(TMIE):c.366T>G (p.Asp122Glu)	TMIE (D122E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 262622	NM_147196.3(TMIE):c.367AAG[7] (p.Lys130_Lys131del)	TMIE	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 227101	NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del)	TMIE	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 47962	NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del)	TMIE (K131del +1 more)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 6 +2 more	GBenign
Select item 3369116	NM_147196.3(TMIE):c.440A>G (p.Asn147Ser)	TMIE (N147S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345550	NM_147196.3(TMIE):c.*51C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 902081	NM_147196.3(TMIE):c.*260C>A	TMIE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1251806	NM_147196.3(TMIE):c.261_269del	TMIE	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1264378	NM_147196.3(TMIE):c.275_279del	TMIE	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1251264	NM_147196.3(TMIE):c.278_279insGG	TMIE	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 3360845	NM_147196.3(TMIE):c.256C>T (p.Arg86Trp)	TMIE (R33W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 53