"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 517316	NM_147196.2(TMIE):c.(?_-216)_*(1276_?)dup	TMIE	Duplication	not specified	GUncertain significance
Select item 47959	NM_147196.3(TMIE):c.34G>T (p.Val12Leu)	TMIE (V12L)	Single nucleotide variant (missense variant +1 more)	not specified +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 505213	NM_147196.3(TMIE):c.101C>T (p.Thr34Met)	TMIE (T34M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 47956	NM_147196.3(TMIE):c.102G>A (p.Thr34=)	TMIE	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 517406	NM_147196.3(TMIE):c.123G>A (p.Pro41=)	TMIE	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 165459	NM_147196.3(TMIE):c.174C>T (p.His58=)	TMIE	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 6 +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 specified +2 more	GConflicting classifications of pathogenicity
Select item 47957	NM_147196.3(TMIE):c.211+3G>C	TMIE	Single nucleotide variant (intron variant)	Rare genetic deafness	GLikely pathogenic
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 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)	Autosomal recessive nonsyndromic hearing loss 6 +2 more	GConflicting classifications of pathogenicity
Select item 229316	NM_147196.3(TMIE):c.247C>T (p.Pro83Ser)	TMIE (P83S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 47958	NM_147196.3(TMIE):c.251G>T (p.Arg84Leu)	TMIE (R84L +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness	GLikely pathogenic
Select item 504684	NM_147196.3(TMIE):c.361+11C>T	TMIE	Single nucleotide variant (intron variant)	not specified	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 227101	NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del)	TMIE	Microsatellite (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 165461	NM_147196.3(TMIE):c.367_393= (p.Lys123_Lys131=)	TMIE	Indel (no sequence alteration)	not specified	GBenign
Select item 47962	NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del)	TMIE (K131del +1 more)	Microsatellite (inframe_deletion)	not specified +2 more	GBenign
Select item 47961	NM_147196.3(TMIE):c.388_391delinsG (p.Lys130_Lys131delinsGlu)	TMIE	Indel	not specified	GLikely benign
Select item 517501	NM_147196.3(TMIE):c.390G>A (p.Lys130=)	TMIE	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 666936	NM_147196.3(TMIE):c.419A>G (p.Lys140Arg)	TMIE (K87R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23