ClinVar for MedGen (Select 413222) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069168	NM_001128228.3(TPRN):c.1525_1532del (p.Pro509fs)	TPRN (P509fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 79	GLikely pathogenic
Select item 2627632	NM_001128228.3(TPRN):c.301G>T (p.Glu101Ter)	TMEM203, LOC130003092 +1 more (E101*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 79	GPathogenic
Select item 1806299	NM_001128228.3(TPRN):c.943dup (p.Leu315fs)	TPRN (L315fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 79 +1 more	GPathogenic
Select item 1478433	NM_001128228.3(TPRN):c.770C>T (p.Pro257Leu)	TPRN (P257L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1199833	NM_001128228.3(TPRN):c.1725+5G>A	TPRN	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 79 +1 more	GUncertain significance
Select item 811203	NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe)	TPRN (L566F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 627484	NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter)	TPRN (E387*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 79	GLikely pathogenic
Select item 627483	NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter)	LOC130003093, TPRN (W18*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 79	GPathogenic
Select item 513463	NM_001128228.3(TPRN):c.1073T>C (p.Leu358Pro)	TPRN (L358P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 79 +2 more	GBenign
Select item 440352	NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys)	TPRN (E646K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 288938	NM_001128228.3(TPRN):c.691C>T (p.Arg231Trp)	TPRN (R231W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 228025	NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr)	TPRN (A675T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193181	NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser)	TPRN (A187S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 79 +2 more	GBenign
Select item 193179	NM_001128228.3(TPRN):c.858C>T (p.Cys286=)	TPRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 165579	NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del)	TPRN (E621del)	Microsatellite (inframe_deletion)	not specified +2 more	GBenign
Select item 165576	NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu)	TPRN (P686L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 138	NM_001128228.3(TPRN):c.1530del (p.Thr511fs)	TPRN (T511fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 79	GPathogenic
Select item 137	NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)	TPRN (G76fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 79 +2 more	GPathogenic
Select item 136	NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs)	TPRN (L80fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 79	GPathogenic
Select item 135	NM_001128228.3(TPRN):c.1427del (p.Pro476fs)	TPRN (P476fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 79	GPathogenic
Select item 134	NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter)	TPRN (W413*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic

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Items: 21