ClinVar for MedGen (Select 322088) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342310	NM_001370524.1(TMIE):c.-507_-66-2329del	TMIE	Deletion (splice donor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6	GPathogenic
Select item 1185676	NM_147196.3(TMIE):c.144_145del (p.Val49fs)	TMIE (V49fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6	GPathogenic
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 984396	NM_147196.3(TMIE):c.122_125dup (p.Pro43fs)	TMIE (P43fs)	Duplication (5 prime UTR variant +1 more)	Sensorineural hearing loss disorder +1 more	GPathogenic/Likely pathogenic
Select item 902960	NM_147196.3(TMIE):c.*803C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902959	NM_147196.3(TMIE):c.*719G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902958	NM_147196.3(TMIE):c.*671G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902957	NM_147196.3(TMIE):c.*642C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
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 902080	NM_147196.3(TMIE):c.*253G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 902079	NM_147196.3(TMIE):c.*148A>G	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902078	NM_147196.3(TMIE):c.*94A>C	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902077	NM_147196.3(TMIE):c.*47T>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 901506	NM_147196.3(TMIE):c.413C>T (p.Ala138Val)	TMIE (A138V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
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 900406	NM_147196.3(TMIE):c.*974C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
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 900352	NM_147196.3(TMIE):c.-8G>T	TMIE	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 900351	NM_147196.3(TMIE):c.-73C>T	TMIE	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6	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 345559	NM_147196.3(TMIE):c.*975G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6 +1 more	GBenign
Select item 345558	NM_147196.3(TMIE):c.*905G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345557	NM_147196.3(TMIE):c.*829G>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345556	NM_147196.3(TMIE):c.*767G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345555	NM_147196.3(TMIE):c.*695G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GLikely benign
Select item 345554	NM_147196.3(TMIE):c.*691G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345553	NM_147196.3(TMIE):c.*687C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345552	NM_147196.3(TMIE):c.*612C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345551	NM_147196.3(TMIE):c.*313C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	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 345548	NM_147196.3(TMIE):c.144A>G (p.Thr48=)	TMIE	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
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 345546	NM_147196.2(TMIE):c.-154G>A	TMIE	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 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 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 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 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 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 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 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 3394	NM_147196.3(TMIE):c.170G>A (p.Trp57Ter)	TMIE (W57* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 6	GPathogenic
Select item 3393	NM_147196.3(TMIE):c.94-2_98delinsC	TMIE	Indel (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 6	GPathogenic
Select item 3392	NM_147196.3(TMIE):c.274C>T (p.Arg92Trp)	TMIE (R92W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 6	GConflicting classifications of pathogenicity
Select item 3391	NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)	TMIE (R84W +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GLikely pathogenic
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 3389	NM_147196.3(TMIE):c.122_125del (p.Pro41fs)	TMIE (P41fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6	GPathogenic

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Links from MedGen

Items: 47