Related gene-specific medical variations for Gene (Select 286262) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378025	NM_001128228.3(TPRN):c.143T>C (p.Val48Ala)	LOC130003093, TPRN (V48A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370050	NM_001128228.3(TPRN):c.170G>T (p.Arg57Leu)	LOC130003093, TPRN (R57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361974	NM_001128228.3(TPRN):c.1850_1864del (p.Glu617_Glu621del)	TPRN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3328338	NM_001128228.3(TPRN):c.125C>T (p.Ala42Val)	LOC130003093, TPRN (A42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181627	NM_001128228.3(TPRN):c.346G>T (p.Ala116Ser)	LOC130003092, TPRN (A116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075890	NM_001128228.3(TPRN):c.25del (p.Ser9fs)	LOC130003093, TPRN (S9fs)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 2960593	NM_001128228.3(TPRN):c.99G>A (p.Leu33=)	LOC130003093, TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915764	NM_001128228.3(TPRN):c.15G>C (p.Gly5=)	LOC130003093, TPRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2891192	NM_001128228.3(TPRN):c.354C>A (p.Ile118=)	LOC130003092, TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723809	NM_001128228.3(TPRN):c.96G>T (p.Ala32=)	LOC130003093, TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627632	NM_001128228.3(TPRN):c.301G>T (p.Glu101Ter)	LOC130003092, TMEM203 +1 more (E101*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 79	GPathogenic
Select item 2502630	NM_001128228.3(TPRN):c.361G>A (p.Ala121Thr)	LOC130003092, TPRN (A121T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2350864	NM_001128228.3(TPRN):c.164C>T (p.Pro55Leu)	LOC130003093, TPRN (P55L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333886	NM_001128228.3(TPRN):c.79C>T (p.Arg27Trp)	LOC130003093, TPRN (R27W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2053563	NM_001128228.3(TPRN):c.171C>T (p.Arg57=)	LOC130003093, TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034254	NM_001128228.3(TPRN):c.349C>T (p.Gln117Ter)	LOC130003092, TPRN (Q117*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1946544	NM_001128228.3(TPRN):c.341G>C (p.Gly114Ala)	LOC130003092, TPRN (G114A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1801058	NM_001128228.3(TPRN):c.310C>T (p.Pro104Ser)	LOC130003092, TPRN (P104S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1800975	NM_001128228.3(TPRN):c.320C>T (p.Pro107Leu)	LOC130003092, TPRN (P107L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676429	NM_001128228.3(TPRN):c.863C>T (p.Ser288Phe)	TPRN (S288F)	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 1532441	NM_001128228.3(TPRN):c.309G>A (p.Val103=)	LOC130003092, TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507117	NM_001128228.3(TPRN):c.43G>A (p.Val15Met)	LOC130003093, TPRN (V15M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495330	NM_001128228.3(TPRN):c.103G>A (p.Gly35Arg)	LOC130003093, TPRN (G35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423514	NM_001128228.3(TPRN):c.116C>T (p.Pro39Leu)	LOC130003093, TPRN (P39L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1359394	NM_001128228.3(TPRN):c.19C>T (p.Pro7Ser)	LOC130003093, TPRN (P7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1327307	NM_001128228.3(TPRN):c.329C>T (p.Pro110Leu)	LOC130003092, TPRN (P110L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1313946	NM_001128228.3(TPRN):c.122C>T (p.Ala41Val)	LOC130003093, TPRN (A41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309188	NM_001128228.3(TPRN):c.107del (p.Gly36fs)	LOC130003093, TPRN (G36fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1206756	NM_001128228.3(TPRN):c.60T>G (p.Arg20=)	TPRN, LOC130003093	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1197680	NM_001128228.3(TPRN):c.199G>C (p.Glu67Gln)	LOC130003093, TPRN (E67Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187226	NM_001128228.3(TPRN):c.335C>T (p.Ala112Val)	LOC130003092, TPRN (A112V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 817440	NM_001128228.3(TPRN):c.9_34del (p.Leu4fs)	LOC130003093, TPRN (L4fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 683161	NM_001128228.3(TPRN):c.162C>A (p.Gly54=)	LOC130003093, TPRN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 512252	NM_001128228.3(TPRN):c.157C>T (p.Leu53=)	LOC130003093, TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 281645	NM_001128228.3(TPRN):c.206G>A (p.Arg69Gln)	LOC130003093, TPRN (R69Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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Links from Gene

Items: 36