TTC21A[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 3053633	NM_001366900.1(TTC21A):c.38T>C (p.Ile13Thr)	TTC21A (I13T)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GLikely benign
Select item 1050420	NM_001366900.1(TTC21A):c.50A>G (p.Gln17Arg)	TTC21A (Q17R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3038160	NM_001366900.1(TTC21A):c.88G>T (p.Val30Leu)	TTC21A (V30L)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GBenign
Select item 3329798	NM_001366900.1(TTC21A):c.105C>G (p.Phe35Leu)	TTC21A (F35L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336033	NM_001366900.1(TTC21A):c.118G>A (p.Val40Met)	TTC21A (V40M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522686	NM_001366900.1(TTC21A):c.126G>C (p.Lys42Asn)	TTC21A (K42N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460629	NM_001366900.1(TTC21A):c.191G>A (p.Ser64Asn)	TTC21A (S64N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3060399	NM_001366900.1(TTC21A):c.272G>A (p.Arg91Gln)	TTC21A (R91Q)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GBenign
Select item 2243472	NM_001366900.1(TTC21A):c.331A>T (p.Thr111Ser)	TTC21A (T111S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 627573	NM_001366900.1(TTC21A):c.341A>G (p.Tyr114Cys)	TTC21A (Y114C)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 37	GPathogenic
Select item 3184155	NM_001366900.1(TTC21A):c.385G>A (p.Ala129Thr)	TTC21A (A129T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250854	NM_001366900.1(TTC21A):c.395A>G (p.Tyr132Cys)	TTC21A (Y132C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2339000	NM_001366900.1(TTC21A):c.403C>A (p.Arg135Ser)	TTC21A (R135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397026	NM_001366900.1(TTC21A):c.406A>G (p.Met136Val)	TTC21A (M136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184156	NM_001366900.1(TTC21A):c.440A>G (p.Tyr147Cys)	TTC21A (Y147C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329799	NM_001366900.1(TTC21A):c.442G>A (p.Val148Met)	TTC21A (V148M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329805	NM_001366900.1(TTC21A):c.443T>G (p.Val148Gly)	TTC21A (V148G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243530	NM_001366900.1(TTC21A):c.475A>G (p.Lys159Glu)	TTC21A (K159E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329802	NM_001366900.1(TTC21A):c.490A>G (p.Lys164Glu)	TTC21A (K164E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184157	NM_001366900.1(TTC21A):c.502G>A (p.Glu168Lys)	TTC21A (E168K)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2390596	NM_001366900.1(TTC21A):c.604G>A (p.Val202Met)	TTC21A (V161M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184158	NM_001366900.1(TTC21A):c.619A>G (p.Thr207Ala)	TTC21A (T166A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 627571	NM_001366900.1(TTC21A):c.716+1G>A	TTC21A	Single nucleotide variant (splice donor variant)	Spermatogenic failure 37	GPathogenic
Select item 2363733	NM_001366900.1(TTC21A):c.766G>A (p.Val256Met)	TTC21A (V215M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357191	NM_001366900.1(TTC21A):c.772G>A (p.Glu258Lys)	TTC21A (E217K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335506	NM_001366900.1(TTC21A):c.842C>T (p.Thr281Ile)	TTC21A (T240I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3060288	NM_001366900.1(TTC21A):c.845G>A (p.Arg282Lys)	TTC21A (R241K +2 more)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GBenign
Select item 3060631	NM_001366900.1(TTC21A):c.853G>A (p.Glu285Lys)	TTC21A (E244K +2 more)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GBenign
Select item 2540351	NM_001366900.1(TTC21A):c.901T>A (p.Cys301Ser)	TTC21A (C301S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184159	NM_001366900.1(TTC21A):c.967C>T (p.Pro323Ser)	TTC21A (P323S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184160	NM_001366900.1(TTC21A):c.971C>T (p.Ser324Leu)	TTC21A (S332L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053795	NM_001366900.1(TTC21A):c.974A>G (p.Tyr325Cys)	TTC21A (Y284C +2 more)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GBenign
Select item 3184143	NM_001366900.1(TTC21A):c.1006T>C (p.Phe336Leu)	TTC21A (F295L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184144	NM_001366900.1(TTC21A):c.1007T>C (p.Phe336Ser)	TTC21A (F295S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184145	NM_001366900.1(TTC21A):c.1010T>C (p.Ile337Thr)	TTC21A (I337T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467680	NM_001366900.1(TTC21A):c.1037T>C (p.Leu346Ser)	TTC21A (L346S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2376848	NM_001366900.1(TTC21A):c.1059G>A (p.Met353Ile)	TTC21A (M312I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241662	NM_001366900.1(TTC21A):c.1082C>G (p.Ala361Gly)	TTC21A (A320G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184146	NM_001366900.1(TTC21A):c.1198A>C (p.Ile400Leu)	TTC21A (I359L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329794	NM_001366900.1(TTC21A):c.1238G>T (p.Gly413Val)	TTC21A (G421V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184147	NM_001366900.1(TTC21A):c.1250C>A (p.Thr417Asn)	TTC21A (T425N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043509	NM_001366900.1(TTC21A):c.1256C>T (p.Ala419Val)	TTC21A (A378V +2 more)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GBenign
Select item 3039132	NM_001366900.1(TTC21A):c.1256C>A (p.Ala419Glu)	TTC21A (A378E +2 more)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GBenign
Select item 2317852	NM_001366900.1(TTC21A):c.1265A>G (p.Lys422Arg)	TTC21A (K430R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653684	NM_001366900.1(TTC21A):c.1284C>T (p.His428=)	TTC21A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2294834	NM_001366900.1(TTC21A):c.1303A>T (p.Ile435Phe)	TTC21A (I394F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467737	NM_001366900.1(TTC21A):c.1340C>T (p.Pro447Leu)	TTC21A (P406L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342326	NM_001366900.1(TTC21A):c.1456G>A (p.Val486Ile)	TTC21A (V445I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052205	NM_001366900.1(TTC21A):c.1505A>T (p.Gln502Leu)	TTC21A (Q461L +2 more)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GLikely benign
Select item 2589101	NM_001366900.1(TTC21A):c.1556G>A (p.Arg519His)	TTC21A (R527H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301315	NM_001366900.1(TTC21A):c.1612T>C (p.Tyr538His)	TTC21A (Y497H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299655	NM_001366900.1(TTC21A):c.1655A>T (p.Glu552Val)	TTC21A (E511V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364636	NM_001366900.1(TTC21A):c.1673A>G (p.Asn558Ser)	TTC21A (N517S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237787	NM_001366900.1(TTC21A):c.1720G>A (p.Ala574Thr)	TTC21A (A533T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317027	NM_001366900.1(TTC21A):c.1721C>A (p.Ala574Asp)	TTC21A (A574D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329796	NM_001366900.1(TTC21A):c.1757A>G (p.Lys586Arg)	TTC21A (K586R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055427	NM_001366900.1(TTC21A):c.1843C>T (p.Arg615Trp)	TTC21A (R574W +3 more)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GBenign
Select item 2230867	NM_001366900.1(TTC21A):c.1852A>G (p.Ile618Val)	TTC21A (I625V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466050	NM_001366900.1(TTC21A):c.1879C>T (p.Arg627Trp)	TTC21A (R627W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615006	NM_001366900.1(TTC21A):c.1880G>A (p.Arg627Gln)	TTC21A (R627Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245592	NM_001366900.1(TTC21A):c.1943G>A (p.Gly648Asp)	TTC21A (G655D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025327	NM_001366900.1(TTC21A):c.1948C>A (p.Pro650Thr)	TTC21A (P609T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2592987	NM_001366900.1(TTC21A):c.2015C>T (p.Ala672Val)	TTC21A (A631V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034825	NM_001366900.1(TTC21A):c.2037C>T (p.Ile679=)	TTC21A	Single nucleotide variant (synonymous variant +1 more)	TTC21A-related disorder	GBenign
Select item 3329801	NM_001366900.1(TTC21A):c.2060T>A (p.Met687Lys)	TTC21A (M694K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329800	NM_001366900.1(TTC21A):c.2079G>A (p.Met693Ile)	TTC21A (M700I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184148	NM_001366900.1(TTC21A):c.2101C>G (p.Leu701Val)	TTC21A (L660V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549794	NM_001366900.1(TTC21A):c.2119T>C (p.Tyr707His)	TTC21A (Y666H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184149	NM_001366900.1(TTC21A):c.2127A>T (p.Arg709Ser)	TTC21A (R709S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039788	NM_001366900.1(TTC21A):c.2135G>A (p.Arg712His)	TTC21A (R671H +3 more)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GBenign
Select item 2498927	NM_001366900.1(TTC21A):c.2135+3A>G	TTC21A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3329803	NM_001366900.1(TTC21A):c.2201T>G (p.Ile734Ser)	TTC21A (I734S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370049	NM_001366900.1(TTC21A):c.2284G>A (p.Gly762Arg)	TTC21A (G721R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 627572	NM_001366900.1(TTC21A):c.2308C>T (p.Gln770Ter)	TTC21A (Q777* +3 more)	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 37	GPathogenic
Select item 3329795	NM_001366900.1(TTC21A):c.2327A>G (p.Glu776Gly)	TTC21A (E783G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329791	NM_001366900.1(TTC21A):c.2387A>T (p.Lys796Ile)	TTC21A (K755I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618043	NM_001366900.1(TTC21A):c.2483A>C (p.Asn828Thr)	TTC21A (N836T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599586	NM_001366900.1(TTC21A):c.2542G>C (p.Val848Leu)	TTC21A (V855L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 627574	NM_001366900.1(TTC21A):c.2542del (p.Ala847_Val848insTer)	TTC21A	Deletion (nonsense +1 more)	Spermatogenic failure 37	GPathogenic
Select item 3184150	NM_001366900.1(TTC21A):c.2548G>C (p.Glu850Gln)	TTC21A (E850Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261060	NM_001366900.1(TTC21A):c.2559C>A (p.Asn853Lys)	TTC21A (N853K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513996	NM_001366900.1(TTC21A):c.2581C>T (p.Arg861Trp)	TTC21A (R861W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039304	NM_001366900.1(TTC21A):c.2676C>T (p.Tyr892=)	TTC21A	Single nucleotide variant (synonymous variant +1 more)	TTC21A-related disorder	GBenign
Select item 3329797	NM_001366900.1(TTC21A):c.2716A>G (p.Lys906Glu)	TTC21A (K906E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050474	NM_001366900.1(TTC21A):c.2741C>G (p.Thr914Ser)	TTC21A (T873S +3 more)	Single nucleotide variant (missense variant +1 more)	TTC21A-related disorder	GBenign
Select item 2236142	NM_001366900.1(TTC21A):c.2798A>C (p.Asp933Ala)	TTC21A (D892A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043158	NM_001366900.1(TTC21A):c.2904G>A (p.Ala968=)	TTC21A	Single nucleotide variant (synonymous variant +1 more)	TTC21A-related disorder	GBenign
Select item 3024797	NM_001366900.1(TTC21A):c.2939C>T (p.Ala980Val)	TTC21A (A939V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3056219	NM_001366900.1(TTC21A):c.2940G>A (p.Ala980=)	TTC21A	Single nucleotide variant (synonymous variant +1 more)	TTC21A-related disorder	GBenign
Select item 2636901	NM_001366900.1(TTC21A):c.3025_3043del (p.Leu1009fs)	TTC21A (L1009fs +3 more)	Deletion (frameshift variant +1 more)	TTC21A-related disorder	GLikely pathogenic
Select item 2367386	NM_001366900.1(TTC21A):c.3047G>A (p.Arg1016Gln)	TTC21A (R1023Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329793	NM_001366900.1(TTC21A):c.3091T>A (p.Cys1031Ser)	TTC21A (C1031S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 627575	NM_001366900.1(TTC21A):c.3095+5G>T	TTC21A	Single nucleotide variant (intron variant)	Spermatogenic failure 37	GPathogenic
Select item 2602929	NM_001366900.1(TTC21A):c.3113A>G (p.Asn1038Ser)	TTC21A (N1046S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470147	NM_001366900.1(TTC21A):c.3159G>C (p.Trp1053Cys)	TTC21A (W1012C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461527	NM_001366900.1(TTC21A):c.3183G>A (p.Met1061Ile)	TTC21A (M1061I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184151	NM_001366900.1(TTC21A):c.3200A>C (p.Asn1067Thr)	TTC21A (N1074T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345569	NM_001366900.1(TTC21A):c.3211G>A (p.Glu1071Lys)	TTC21A (E1030K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 2