Related gene-specific medical variations for Gene (Select 386677) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289599	NM_198691.3(KRTAP10-1):c.737T>A (p.Met246Lys)	KRTAP10-1, TSPEAR (M246K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289598	NM_198691.3(KRTAP10-1):c.515C>T (p.Ala172Val)	KRTAP10-1, TSPEAR (A172V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289597	NM_198691.3(KRTAP10-1):c.100C>A (p.Leu34Ile)	KRTAP10-1, TSPEAR (L34I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289596	NM_198691.3(KRTAP10-1):c.604G>A (p.Val202Ile)	KRTAP10-1, TSPEAR (V202I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289595	NM_198691.3(KRTAP10-1):c.181G>A (p.Ala61Thr)	KRTAP10-1, TSPEAR (A61T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289594	NM_198691.3(KRTAP10-1):c.510T>G (p.His170Gln)	KRTAP10-1, TSPEAR (H170Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3116813	NM_198691.3(KRTAP10-1):c.97G>A (p.Ala33Thr)	KRTAP10-1, TSPEAR (A33T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116812	NM_198691.3(KRTAP10-1):c.829T>A (p.Cys277Ser)	KRTAP10-1, TSPEAR (C277S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116811	NM_198691.3(KRTAP10-1):c.821G>A (p.Arg274His)	KRTAP10-1, TSPEAR (R274H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116810	NM_198691.3(KRTAP10-1):c.734G>A (p.Cys245Tyr)	KRTAP10-1, TSPEAR (C245Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116809	NM_198691.3(KRTAP10-1):c.704T>C (p.Leu235Pro)	KRTAP10-1, TSPEAR (L235P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116808	NM_198691.3(KRTAP10-1):c.685T>C (p.Ser229Pro)	KRTAP10-1, TSPEAR (S229P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116807	NM_198691.3(KRTAP10-1):c.448G>T (p.Val150Leu)	KRTAP10-1, TSPEAR (V150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116806	NM_198691.3(KRTAP10-1):c.385C>T (p.Pro129Ser)	KRTAP10-1, TSPEAR (P129S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116805	NM_198691.3(KRTAP10-1):c.290A>G (p.Gln97Arg)	KRTAP10-1, TSPEAR (Q97R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116804	NM_198691.3(KRTAP10-1):c.272C>T (p.Thr91Ile)	KRTAP10-1, TSPEAR (T91I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116803	NM_198691.3(KRTAP10-1):c.260C>T (p.Pro87Leu)	KRTAP10-1, TSPEAR (P87L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116802	NM_198691.3(KRTAP10-1):c.155G>A (p.Arg52His)	KRTAP10-1, TSPEAR (R52H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025016	NM_198691.3(KRTAP10-1):c.754T>C (p.Cys252Arg)	KRTAP10-1, TSPEAR (C252R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2687868	NM_144991.3(TSPEAR):c.304-5751T>A	KRTAP10-1, TSPEAR (D159E)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GBenign
Select item 2687866	NM_144991.3(TSPEAR):c.304-5753G>T	KRTAP10-1, TSPEAR (D159Y)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GBenign
Select item 2652760	NM_144991.3(TSPEAR):c.304-6166C>A	KRTAP10-1, TSPEAR (A21D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2652759	NM_198691.3(KRTAP10-1):c.778G>C (p.Ala260Pro)	KRTAP10-1, TSPEAR (A260P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2607231	NM_198691.3(KRTAP10-1):c.743T>A (p.Val248Asp)	KRTAP10-1, TSPEAR (V248D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558678	NM_198691.3(KRTAP10-1):c.574G>A (p.Val192Ile)	KRTAP10-1, TSPEAR (V192I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528679	NM_198691.3(KRTAP10-1):c.271A>G (p.Thr91Ala)	KRTAP10-1, TSPEAR (T91A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517977	NM_198691.3(KRTAP10-1):c.826G>A (p.Ala276Thr)	KRTAP10-1, TSPEAR (A276T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2484529	NM_198691.3(KRTAP10-1):c.55G>C (p.Val19Leu)	KRTAP10-1, TSPEAR (V19L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466511	NM_198691.3(KRTAP10-1):c.131C>G (p.Thr44Ser)	KRTAP10-1, TSPEAR (T44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458666	NM_198691.3(KRTAP10-1):c.769T>A (p.Ser257Thr)	KRTAP10-1, TSPEAR (S257T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454655	NM_198691.3(KRTAP10-1):c.842C>A (p.Ala281Asp)	KRTAP10-1, TSPEAR (A281D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394391	NM_198691.3(KRTAP10-1):c.820C>T (p.Arg274Cys)	KRTAP10-1, TSPEAR (R274C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381616	NM_198691.3(KRTAP10-1):c.551G>A (p.Cys184Tyr)	KRTAP10-1, TSPEAR (C184Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2381615	NM_198691.3(KRTAP10-1):c.544G>T (p.Ala182Ser)	KRTAP10-1, TSPEAR (A182S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351139	NM_198691.3(KRTAP10-1):c.643A>G (p.Ser215Gly)	KRTAP10-1, TSPEAR (S215G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349034	NM_198691.3(KRTAP10-1):c.613G>A (p.Gly205Arg)	KRTAP10-1, TSPEAR (G205R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280934	NM_198691.3(KRTAP10-1):c.818G>C (p.Cys273Ser)	KRTAP10-1, TSPEAR (C273S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251015	NM_198691.3(KRTAP10-1):c.412C>A (p.Gln138Lys)	KRTAP10-1, TSPEAR (Q138K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246132	NM_198691.3(KRTAP10-1):c.758C>A (p.Ala253Asp)	KRTAP10-1, TSPEAR (A253D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237503	NM_198691.3(KRTAP10-1):c.763G>A (p.Ala255Thr)	KRTAP10-1, TSPEAR (A255T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2211494	NM_198691.3(KRTAP10-1):c.233C>T (p.Ser78Leu)	KRTAP10-1, TSPEAR (S78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206780	NM_198691.3(KRTAP10-1):c.521G>A (p.Cys174Tyr)	KRTAP10-1, TSPEAR (C174Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1695029	NM_198691.3(KRTAP10-1):c.837C>T (p.Arg279=)	KRTAP10-1, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1033115	NM_144991.3(TSPEAR):c.304-5450G>T	KRTAP10-1, TSPEAR (A260S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 98	GUncertain significance
Select item 376948	NM_198691.3(KRTAP10-1):c.22G>A (p.Val8Ile)	KRTAP10-1, TSPEAR (V8I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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Links from Gene

Items: 45