Related gene-specific medical variations for Gene (Select 386682) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2652761	NM_198696.3(KRTAP10-3):c.540T>C (p.Pro180=)	KRTAP10-3, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2606158	NM_198696.3(KRTAP10-3):c.266G>A (p.Cys89Tyr)	KRTAP10-3, TSPEAR (C89Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596499	NM_198696.3(KRTAP10-3):c.569G>A (p.Arg190His)	KRTAP10-3, TSPEAR (R190H)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595371	NM_198696.3(KRTAP10-3):c.605C>T (p.Thr202Met)	KRTAP10-3, TSPEAR (T202M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591857	NM_198696.3(KRTAP10-3):c.556C>G (p.Pro186Ala)	KRTAP10-3, TSPEAR (P186A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570292	NM_198696.3(KRTAP10-3):c.547A>T (p.Thr183Ser)	KRTAP10-3, TSPEAR (T183S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2570137	NM_198696.3(KRTAP10-3):c.493G>A (p.Val165Met)	KRTAP10-3, TSPEAR (V165M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569130	NM_198696.3(KRTAP10-3):c.25T>C (p.Cys9Arg)	KRTAP10-3, TSPEAR (C9R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558949	NM_198696.3(KRTAP10-3):c.125G>C (p.Cys42Ser)	KRTAP10-3, TSPEAR (C42S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535856	NM_198696.3(KRTAP10-3):c.317A>T (p.Lys106Met)	KRTAP10-3, TSPEAR (K106M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535855	NM_198696.3(KRTAP10-3):c.316A>G (p.Lys106Glu)	KRTAP10-3, TSPEAR (K106E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533276	NM_198696.3(KRTAP10-3):c.488G>A (p.Arg163His)	KRTAP10-3, TSPEAR (R163H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510776	NM_198696.3(KRTAP10-3):c.616C>T (p.Leu206Phe)	KRTAP10-3, TSPEAR (L206F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509477	NM_198696.3(KRTAP10-3):c.541G>A (p.Ala181Thr)	KRTAP10-3, TSPEAR (A181T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2471456	NM_198696.3(KRTAP10-3):c.16A>G (p.Met6Val)	KRTAP10-3, TSPEAR (M6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462603	NM_198696.3(KRTAP10-3):c.91T>C (p.Cys31Arg)	TSPEAR, KRTAP10-3 (C31R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458667	NM_198696.3(KRTAP10-3):c.389C>G (p.Ser130Cys)	KRTAP10-3, TSPEAR (S130C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2394750	NM_198696.3(KRTAP10-3):c.382G>A (p.Val128Ile)	TSPEAR, KRTAP10-3 (V128I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382887	NM_198696.3(KRTAP10-3):c.86C>T (p.Pro29Leu)	KRTAP10-3, TSPEAR (P29L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380193	NM_198696.3(KRTAP10-3):c.502T>C (p.Ser168Pro)	KRTAP10-3, TSPEAR (S168P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2351794	NM_198696.3(KRTAP10-3):c.440G>A (p.Cys147Tyr)	KRTAP10-3, TSPEAR (C147Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347015	NM_198696.3(KRTAP10-3):c.419C>G (p.Ser140Cys)	TSPEAR, KRTAP10-3 (S140C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346113	NM_198696.3(KRTAP10-3):c.571C>A (p.Pro191Thr)	KRTAP10-3, TSPEAR (P191T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292658	NM_198696.3(KRTAP10-3):c.274T>C (p.Ser92Pro)	TSPEAR, KRTAP10-3 (S92P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288076	NM_198696.3(KRTAP10-3):c.335C>G (p.Pro112Arg)	TSPEAR, KRTAP10-3 (P112R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283571	NM_198696.3(KRTAP10-3):c.4G>A (p.Ala2Thr)	KRTAP10-3, TSPEAR (A2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247751	NM_198696.3(KRTAP10-3):c.454T>G (p.Cys152Gly)	TSPEAR, KRTAP10-3 (C152G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226288	NM_198696.3(KRTAP10-3):c.28T>C (p.Ser10Pro)	TSPEAR, KRTAP10-3 (S10P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221097	NM_198696.3(KRTAP10-3):c.209G>A (p.Gly70Asp)	TSPEAR, KRTAP10-3 (G70D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1301811	NM_144991.3(TSPEAR):c.303+9641C>A	KRTAP10-3, TSPEAR (P191Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 98	GLikely benign
Select item 221312	NM_144991.3(TSPEAR):c.303+9076A>G	KRTAP10-3, TSPEAR (T3A)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GBenign

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Items: 31