ClinVar for Gene (Select 55714) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238887	NM_001080477.4(TENM3):c.5243A>G (p.Glu1748Gly)	TENM3 (E1475G +12 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238886	NM_001080477.4(TENM3):c.2065G>A (p.Gly689Ser)	TENM3 (G417S +2 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238885	NM_001080477.4(TENM3):c.1847A>T (p.Asp616Val)	TENM3 (D344V +2 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3175930	NM_001080477.4(TENM3):c.953C>T (p.Ser318Leu)	TENM3 (S46L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175929	NM_001080477.4(TENM3):c.940G>A (p.Ala314Thr)	TENM3 (A314T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175927	NM_001080477.4(TENM3):c.8006G>A (p.Gly2669Glu)	TENM3 (G2396E +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175926	NM_001080477.4(TENM3):c.7957G>A (p.Gly2653Ser)	TENM3 (G2560S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175925	NM_001080477.4(TENM3):c.7892G>A (p.Arg2631Gln)	TENM3 (R2537Q +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175924	NM_001080477.4(TENM3):c.7831A>C (p.Met2611Leu)	TENM3 (M2517L +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175923	NM_001080477.4(TENM3):c.7535A>T (p.Asn2512Ile)	TENM3 (N2240I +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175922	NM_001080477.4(TENM3):c.7423G>A (p.Val2475Met)	TENM3 (V2219M +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175921	NM_001080477.4(TENM3):c.7015C>A (p.His2339Asn)	TENM3 (H2073N +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175920	NM_001080477.4(TENM3):c.670G>A (p.Ala224Thr)	TENM3 (A131T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175918	NM_001080477.4(TENM3):c.6623G>C (p.Ser2208Thr)	TENM3 (S1943T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175917	NM_001080477.4(TENM3):c.6521G>A (p.Arg2174His)	TENM3 (R1901H +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175916	NM_001080477.4(TENM3):c.6443T>C (p.Met2148Thr)	TENM3 (M2054T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175915	NM_001080477.4(TENM3):c.5875A>G (p.Ile1959Val)	TENM3 (I1866V +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175914	NM_001080477.4(TENM3):c.583C>G (p.Gln195Glu)	TENM3 (Q102E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175913	NM_001080477.4(TENM3):c.5749C>T (p.Pro1917Ser)	TENM3 (P263S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175912	NM_001080477.4(TENM3):c.5678C>T (p.Thr1893Ile)	TENM3 (T239I +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175911	NM_001080477.4(TENM3):c.5605A>G (p.Met1869Val)	TENM3 (M1604V +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175910	NM_001080477.4(TENM3):c.5420C>T (p.Pro1807Leu)	TENM3 (P153L +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175909	NM_001080477.4(TENM3):c.5164G>A (p.Val1722Ile)	TENM3 (V1628I +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3175908	NM_001080477.4(TENM3):c.5039C>T (p.Ser1680Leu)	TENM3 (S1408L +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175907	NM_001080477.4(TENM3):c.4897G>A (p.Asp1633Asn)	TENM3 (D1360N +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175906	NM_001080477.4(TENM3):c.440T>A (p.Leu147Gln)	TENM3 (L147Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175905	NM_001080477.4(TENM3):c.4319T>C (p.Leu1440Ser)	TENM3 (L1447S +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175904	NM_001080477.4(TENM3):c.4139G>A (p.Arg1380Gln)	TENM3 (R1108Q +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175903	NM_001080477.4(TENM3):c.4022G>A (p.Arg1341His)	TENM3 (R1068H +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175902	NM_001080477.4(TENM3):c.3898G>A (p.Val1300Ile)	TENM3 (V1027I +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175901	NM_001080477.4(TENM3):c.3719G>A (p.Arg1240His)	TENM3 (R1146H +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175900	NM_001080477.4(TENM3):c.3599C>A (p.Ser1200Tyr)	TENM3 (S1107Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175899	NM_001080477.4(TENM3):c.3311A>G (p.Tyr1104Cys)	TENM3 (Y1104C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175898	NM_001080477.4(TENM3):c.3260C>T (p.Ser1087Leu)	TENM3 (S815L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175897	NM_001080477.4(TENM3):c.2980G>C (p.Glu994Gln)	TENM3 (E722Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175896	NM_001080477.4(TENM3):c.2935C>T (p.Pro979Ser)	TENM3 (P979S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175895	NM_001080477.4(TENM3):c.2669C>T (p.Pro890Leu)	TENM3 (P797L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175894	NM_001080477.4(TENM3):c.247C>G (p.Leu83Val)	TENM3 (L83V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175893	NM_001080477.4(TENM3):c.2437C>T (p.Arg813Trp)	TENM3 (R541W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175892	NM_001080477.4(TENM3):c.2377A>G (p.Ile793Val)	TENM3 (I521V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3175891	NM_001080477.4(TENM3):c.2076G>C (p.Met692Ile)	TENM3 (M692I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175890	NM_001080477.4(TENM3):c.205A>G (p.Arg69Gly)	TENM3 (R69G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175889	NM_001080477.4(TENM3):c.1991C>T (p.Ser664Phe)	TENM3 (S392F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175888	NM_001080477.4(TENM3):c.1449C>G (p.Ile483Met)	TENM3 (I211M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175887	NM_001080477.4(TENM3):c.1429C>T (p.Leu477Phe)	TENM3 (L205F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175886	NM_001080477.4(TENM3):c.1409G>A (p.Arg470Gln)	TENM3 (R198Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175885	NM_001080477.4(TENM3):c.1246C>G (p.Leu416Val)	TENM3 (L144V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175884	NM_001080477.4(TENM3):c.1241A>G (p.Gln414Arg)	TENM3 (Q414R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3058480	NM_001080477.4(TENM3):c.3798G>T (p.Pro1266=)	TENM3	Single nucleotide variant (synonymous variant)	TENM3-related disorder	GLikely benign
Select item 3054298	NM_001080477.4(TENM3):c.8013C>T (p.Tyr2671=)	TENM3	Single nucleotide variant (synonymous variant)	TENM3-related disorder	GLikely benign
Select item 3053935	NM_001080477.4(TENM3):c.5160G>A (p.Pro1720=)	TENM3	Single nucleotide variant (synonymous variant)	TENM3-related disorder	GLikely benign
Select item 3053502	NM_001080477.4(TENM3):c.5409G>A (p.Thr1803=)	TENM3	Single nucleotide variant (synonymous variant)	TENM3-related disorder	GLikely benign
Select item 3051474	NM_001080477.4(TENM3):c.2585+9T>G	TENM3	Single nucleotide variant (intron variant)	TENM3-related disorder	GLikely benign
Select item 3048652	NM_001080477.4(TENM3):c.3862+5C>T	TENM3	Single nucleotide variant (intron variant)	TENM3-related disorder	GLikely benign
Select item 3048255	NM_001080477.4(TENM3):c.7871C>G (p.Ala2624Gly)	TENM3 (A2351G +12 more)	Single nucleotide variant (missense variant)	TENM3-related disorder	GLikely benign
Select item 3042630	NM_001080477.4(TENM3):c.7335T>C (p.Asp2445=)	TENM3	Single nucleotide variant (synonymous variant)	TENM3-related disorder	GLikely benign
Select item 3042104	NM_001080477.4(TENM3):c.1704C>T (p.Ser568=)	TENM3	Single nucleotide variant (synonymous variant)	TENM3-related disorder	GLikely benign
Select item 3041034	NM_001080477.4(TENM3):c.4759T>C (p.Leu1587=)	TENM3	Single nucleotide variant (synonymous variant)	TENM3-related disorder	GLikely benign
Select item 3038569	NM_001080477.4(TENM3):c.512-9_512-4del	TENM3	Deletion (intron variant)	TENM3-related disorder	GLikely benign
Select item 3036605	NM_001080477.4(TENM3):c.6510G>C (p.Leu2170=)	TENM3	Single nucleotide variant (synonymous variant)	TENM3-related disorder	GLikely benign
Select item 3035427	NM_001080477.4(TENM3):c.1639+9G>T	TENM3	Single nucleotide variant (intron variant)	TENM3-related disorder	GLikely benign
Select item 3034079	NM_001080477.4(TENM3):c.4783T>C (p.Leu1595=)	TENM3	Single nucleotide variant (synonymous variant)	TENM3-related disorder	GLikely benign
Select item 3029496	NM_001080477.4(TENM3):c.543C>T (p.Thr181=)	TENM3	Single nucleotide variant (synonymous variant +1 more)	TENM3-related disorder	GLikely benign
Select item 3025348	NM_001080477.4(TENM3):c.4834G>A (p.Gly1612Ser)	TENM3 (G1339S +11 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AFG2A, AFM +537 more	Copy number gain	not provided	GPathogenic
Select item 3011965	NM_001080477.4(TENM3):c.4050T>C (p.Ile1350=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000865	NM_001080477.4(TENM3):c.2763A>G (p.Pro921=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994859	NM_001080477.4(TENM3):c.2585+16C>G	TENM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969881	NM_001080477.4(TENM3):c.5178C>T (p.Thr1726=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967600	NM_001080477.4(TENM3):c.3862+15C>A	TENM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956525	NM_001080477.4(TENM3):c.2369-16A>C	TENM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917693	NM_001080477.4(TENM3):c.439C>T (p.Leu147=)	TENM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2916194	NM_001080477.4(TENM3):c.5187G>A (p.Pro1729=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908861	NM_001080477.4(TENM3):c.4542G>A (p.Ala1514=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907578	NM_001080477.4(TENM3):c.2172T>C (p.Asp724=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888899	NM_001080477.4(TENM3):c.36G>A (p.Leu12=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883402	NM_001080477.4(TENM3):c.4260A>G (p.Glu1420=)	TENM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2865075	NM_001080477.4(TENM3):c.8014G>A (p.Val2672Ile)	TENM3 (V2678I +12 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2840283	NM_001080477.4(TENM3):c.6342G>A (p.Lys2114=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821748	NM_001080477.4(TENM3):c.7137A>G (p.Pro2379=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763000	NM_001080477.4(TENM3):c.5106C>T (p.Gly1702=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2757823	NM_001080477.4(TENM3):c.6459C>T (p.Tyr2153=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2754123	NM_001080477.4(TENM3):c.1311G>A (p.Pro437=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2719028	NM_001080477.4(TENM3):c.5991T>C (p.Gly1997=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2716474	NM_001080477.4(TENM3):c.3055A>G (p.Lys1019Glu)	TENM3 (K926E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685134	GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1	ADAM29, AGA +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2665030	NM_001080477.4(TENM3):c.749+4836T>G	TENM3	Single nucleotide variant (intron variant)	Microphthalmia, isolated, with coloboma 9	GUncertain significance
Select item 2665029	NM_001080477.4(TENM3):c.631A>G (p.Arg211Gly)	TENM3 (R118G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Microphthalmia, isolated, with coloboma 9	GUncertain significance
Select item 2655204	NM_001080477.4(TENM3):c.1896C>T (p.Cys632=)	TENM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620086	NM_001080477.4(TENM3):c.2987C>T (p.Thr996Ile)	TENM3 (T903I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620034	NM_001080477.4(TENM3):c.7797G>T (p.Gln2599His)	TENM3 (Q2334H +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614774	NM_001080477.4(TENM3):c.7615T>G (p.Phe2539Val)	TENM3 (F2274V +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614183	NM_001080477.4(TENM3):c.7181G>A (p.Ser2394Asn)	TENM3 (S2122N +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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