TEKT1[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 3175727	NM_053285.2(TEKT1):c.1249G>C (p.Val417Leu)	TEKT1 (V417L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262313	NM_053285.2(TEKT1):c.1202A>T (p.Asp401Val)	TEKT1 (D401V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175726	NM_053285.2(TEKT1):c.1199G>A (p.Arg400Gln)	TEKT1 (R400Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466029	NM_053285.2(TEKT1):c.1198C>T (p.Arg400Trp)	TEKT1 (R400W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332202	NM_053285.2(TEKT1):c.1174C>A (p.Gln392Lys)	TEKT1 (Q392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535763	NM_053285.2(TEKT1):c.1034C>T (p.Thr345Ile)	TEKT1 (T345I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394993	NM_053285.2(TEKT1):c.997G>A (p.Ala333Thr)	TEKT1 (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175736	NM_053285.2(TEKT1):c.988C>T (p.Arg330Cys)	TEKT1 (R330C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175735	NM_053285.2(TEKT1):c.983T>G (p.Leu328Arg)	TEKT1 (L328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376024	NM_053285.2(TEKT1):c.976G>T (p.Val326Leu)	TEKT1 (V326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175734	NM_053285.2(TEKT1):c.967C>T (p.Arg323Trp)	TEKT1 (R323W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175733	NM_053285.2(TEKT1):c.942T>A (p.His314Gln)	TEKT1 (H314Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040798	NM_053285.2(TEKT1):c.933G>T (p.Lys311Asn)	TEKT1 (K311N)	Single nucleotide variant (missense variant)	TEKT1-related disorder	GLikely benign
Select item 3175732	NM_053285.2(TEKT1):c.877G>A (p.Glu293Lys)	TEKT1 (E293K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325259	NM_053285.2(TEKT1):c.863A>G (p.Glu288Gly)	TEKT1 (E288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038118	NM_053285.2(TEKT1):c.818A>G (p.Asp273Gly)	TEKT1 (D273G)	Single nucleotide variant (missense variant)	TEKT1-related disorder	GLikely benign
Select item 2272223	NM_053285.2(TEKT1):c.803T>C (p.Leu268Pro)	TEKT1 (L268P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325256	NM_053285.2(TEKT1):c.761G>A (p.Arg254His)	TEKT1 (R254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325255	NM_053285.2(TEKT1):c.731G>A (p.Arg244Gln)	TEKT1 (R244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325257	NM_053285.2(TEKT1):c.610G>A (p.Ala204Thr)	TEKT1 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286560	NM_053285.2(TEKT1):c.557A>G (p.Asp186Gly)	TEKT1 (D186G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532445	NM_053285.2(TEKT1):c.530A>T (p.Asp177Val)	TEKT1 (D177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509326	NM_053285.2(TEKT1):c.484C>T (p.Arg162Trp)	TEKT1 (R162W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548385	NM_053285.2(TEKT1):c.475G>A (p.Glu159Lys)	TEKT1 (E159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604222	NM_053285.2(TEKT1):c.433G>A (p.Gly145Ser)	TEKT1 (G145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313133	NM_053285.2(TEKT1):c.418G>T (p.Ala140Ser)	TEKT1 (A140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477220	NM_053285.2(TEKT1):c.414G>T (p.Lys138Asn)	TEKT1 (K138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175731	NM_053285.2(TEKT1):c.365G>A (p.Arg122His)	TEKT1 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175730	NM_053285.2(TEKT1):c.364C>T (p.Arg122Cys)	TEKT1 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740048	NM_053285.2(TEKT1):c.357-10C>A	TEKT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3175728	NM_053285.2(TEKT1):c.133G>A (p.Val45Met)	TEKT1 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341272	NM_053285.2(TEKT1):c.98G>A (p.Arg33Gln)	TEKT1 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311622	NM_053285.2(TEKT1):c.98G>T (p.Arg33Leu)	TEKT1 (R33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325258	NM_053285.2(TEKT1):c.92G>A (p.Arg31Lys)	TEKT1 (R31K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257433	NM_053285.2(TEKT1):c.92G>T (p.Arg31Met)	TEKT1 (R31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254046	NM_053285.2(TEKT1):c.88C>G (p.Gln30Glu)	TEKT1 (Q30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175729	NM_053285.2(TEKT1):c.25C>T (p.Pro9Ser)	TEKT1 (P9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1526565	GRCh37/hg19 17p13.1(chr17:6630435-6778040)	FBXO39, TEKT1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1340661	GRCh37/hg19 17p13.1(chr17:6630436-6811274)x1	FBXO39, TEKT1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1076973	NC_000017.10:g.(?_6589506)_(7128436_?)del	ACADVL, ALOX12 +15 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1020704	NC_000017.10:g.(?_6328780)_(7128416_?)dup	ACADVL, AIPL1 +22 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815899	GRCh37/hg19 17p13.1(chr17:6630435-6800894)x1	TEKT1, FBXO39 +1 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic

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Items: 62