TEKT3[gene] and "single gene"[properties] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2212515	NM_031898.3(TEKT3):c.1454G>A (p.Arg485Gln)	TEKT3 (R485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175749	NM_031898.3(TEKT3):c.1448C>G (p.Thr483Ser)	TEKT3 (T483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325262	NM_031898.3(TEKT3):c.1405G>A (p.Asp469Asn)	TEKT3 (D469N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273692	NM_031898.3(TEKT3):c.1405G>C (p.Asp469His)	TEKT3 (D469H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479370	NM_031898.3(TEKT3):c.1367A>G (p.Glu456Gly)	TEKT3 (E456G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325265	NM_031898.3(TEKT3):c.1288A>G (p.Thr430Ala)	TEKT3 (T430A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286312	NM_031898.3(TEKT3):c.1268A>C (p.Glu423Ala)	TEKT3 (E423A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362556	NM_031898.3(TEKT3):c.1267G>A (p.Glu423Lys)	TEKT3 (E423K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175748	NM_031898.3(TEKT3):c.1249C>G (p.Gln417Glu)	TEKT3 (Q417E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514546	NM_031898.3(TEKT3):c.1220C>T (p.Pro407Leu)	TEKT3 (P407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175747	NM_031898.3(TEKT3):c.1064C>T (p.Ala355Val)	TEKT3 (A355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515318	NM_031898.3(TEKT3):c.1052T>C (p.Ile351Thr)	TEKT3 (I351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386120	NM_031898.3(TEKT3):c.991G>T (p.Val331Leu)	TEKT3 (V331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312537	NM_031898.3(TEKT3):c.929G>A (p.Arg310His)	TEKT3 (R310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222284	NM_031898.3(TEKT3):c.925C>G (p.Leu309Val)	TEKT3 (L309V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624008	NM_031898.3(TEKT3):c.913G>A (p.Asp305Asn)	TEKT3 (D305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325264	NM_031898.3(TEKT3):c.871G>T (p.Asp291Tyr)	TEKT3 (D291Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325261	NM_031898.3(TEKT3):c.824G>A (p.Arg275His)	TEKT3 (R275H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175756	NM_031898.3(TEKT3):c.796C>T (p.Arg266Trp)	TEKT3 (R266W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270490	NM_031898.3(TEKT3):c.790G>T (p.Ala264Ser)	TEKT3 (A264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358446	NM_031898.3(TEKT3):c.788C>T (p.Thr263Met)	TEKT3 (T263M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515684	NM_031898.3(TEKT3):c.758A>G (p.Glu253Gly)	TEKT3 (E253G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443975	NM_031898.3(TEKT3):c.752A>C (p.Gln251Pro)	TEKT3	Single nucleotide variant (missense variant)	Spermatogenic failure 81	GPathogenic
Select item 2344538	NM_031898.3(TEKT3):c.662C>T (p.Thr221Met)	TEKT3 (T221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249365	NM_031898.3(TEKT3):c.631G>T (p.Val211Phe)	TEKT3 (V211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314247	NM_031898.3(TEKT3):c.568G>A (p.Ala190Thr)	TEKT3 (A190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443974	NM_031898.3(TEKT3):c.548G>A (p.Arg183Gln)	TEKT3	Single nucleotide variant (missense variant)	Spermatogenic failure 81	GPathogenic
Select item 3175755	NM_031898.3(TEKT3):c.547C>T (p.Arg183Trp)	TEKT3 (R183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443973	NM_031898.3(TEKT3):c.543_547delinsTTGA (p.Glu182_Arg183delinsTer)	TEKT3	Indel (nonsense)	Spermatogenic failure 81	GPathogenic
Select item 3175754	NM_031898.3(TEKT3):c.546G>T (p.Glu182Asp)	TEKT3 (E182D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325263	NM_031898.3(TEKT3):c.523A>C (p.Thr175Pro)	TEKT3 (T175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341636	NM_031898.3(TEKT3):c.491T>A (p.Leu164Ter)	TEKT3 (L164*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 3175753	NM_031898.3(TEKT3):c.488A>G (p.Glu163Gly)	TEKT3 (E163G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175752	NM_031898.3(TEKT3):c.470A>C (p.Lys157Thr)	TEKT3 (K157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175751	NM_031898.3(TEKT3):c.461G>T (p.Gly154Val)	TEKT3 (G154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241897	NM_031898.3(TEKT3):c.445C>A (p.Arg149Ser)	TEKT3 (R149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225196	NM_031898.3(TEKT3):c.376C>T (p.Arg126Cys)	TEKT3 (R126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365480	NM_031898.3(TEKT3):c.320A>G (p.Tyr107Cys)	TEKT3 (Y107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590475	NM_031898.3(TEKT3):c.308A>G (p.Asn103Ser)	TEKT3 (N103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266507	NM_031898.3(TEKT3):c.287C>G (p.Pro96Arg)	TEKT3 (P96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219426	NM_031898.3(TEKT3):c.200C>T (p.Pro67Leu)	TEKT3 (P67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485372	NM_031898.3(TEKT3):c.122A>G (p.Asn41Ser)	TEKT3 (N41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588257	NM_031898.3(TEKT3):c.106C>T (p.Arg36Cys)	TEKT3 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261958	NM_031898.3(TEKT3):c.96C>A (p.Ser32Arg)	TEKT3 (S32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410817	NM_031898.3(TEKT3):c.26C>T (p.Thr9Met)	TEKT3 (T9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1177482	GRCh37/hg19 17p12(chr17:15229779-15265326)x3	TEKT3	Copy number gain	Charcot-Marie-Tooth disease, type IA	Gnot provided

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Items: 46