ClinVar for Gene (Select 83439) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3175178	NM_031283.3(TCF7L1):c.7C>A (p.Gln3Lys)	TCF7L1 (Q3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175177	NM_031283.3(TCF7L1):c.50G>A (p.Gly17Glu)	TCF7L1 (G17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175176	NM_031283.3(TCF7L1):c.500C>T (p.Thr167Met)	TCF7L1 (T167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175175	NM_031283.3(TCF7L1):c.499A>C (p.Thr167Pro)	TCF7L1 (T167P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175174	NM_031283.3(TCF7L1):c.322C>T (p.Pro108Ser)	TCF7L1 (P108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175173	NM_031283.3(TCF7L1):c.1679C>T (p.Pro560Leu)	TCF7L1 (P560L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175172	NM_031283.3(TCF7L1):c.1614G>T (p.Gln538His)	TCF7L1 (Q538H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175171	NM_031283.3(TCF7L1):c.1571C>T (p.Ser524Leu)	TCF7L1 (S524L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175170	NM_031283.3(TCF7L1):c.142G>C (p.Glu48Gln)	TCF7L1 (E48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175169	NM_031283.3(TCF7L1):c.1426C>A (p.Leu476Met)	TCF7L1 (L476M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651092	NM_031283.3(TCF7L1):c.1458G>A (p.Leu486=)	TCF7L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651091	NM_031283.3(TCF7L1):c.34G>A (p.Gly12Ser)	TCF7L1 (G12S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2602681	NM_031283.3(TCF7L1):c.1534C>T (p.Arg512Trp)	TCF7L1 (R512W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602007	NM_031283.3(TCF7L1):c.163A>G (p.Ser55Gly)	TCF7L1 (S55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544094	NM_031283.3(TCF7L1):c.109G>A (p.Glu37Lys)	TCF7L1 (E37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534669	NM_031283.3(TCF7L1):c.64A>G (p.Ser22Gly)	TCF7L1 (S22G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524898	NM_031283.3(TCF7L1):c.512C>G (p.Ser171Cys)	TCF7L1 (S171C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510751	NM_031283.3(TCF7L1):c.1417G>A (p.Gly473Arg)	TCF7L1 (G473R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463557	NM_031283.3(TCF7L1):c.1727A>G (p.Gln576Arg)	TCF7L1 (Q576R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461616	NM_031283.3(TCF7L1):c.931G>A (p.Val311Ile)	TCF7L1 (V311I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403725	NM_031283.3(TCF7L1):c.5C>A (p.Pro2His)	TCF7L1 (P2H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402854	NM_031283.3(TCF7L1):c.1681T>C (p.Ser561Pro)	TCF7L1 (S561P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396425	NM_031283.3(TCF7L1):c.257G>C (p.Arg86Thr)	TCF7L1 (R86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359276	NM_031283.3(TCF7L1):c.1591T>C (p.Ser531Pro)	TCF7L1 (S531P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353510	NM_031283.3(TCF7L1):c.43A>G (p.Ser15Gly)	TCF7L1 (S15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348620	NM_031283.3(TCF7L1):c.887C>G (p.Ala296Gly)	TCF7L1 (A296G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345334	NM_031283.3(TCF7L1):c.498C>G (p.Asp166Glu)	TCF7L1 (D166E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344761	NM_031283.3(TCF7L1):c.1651A>C (p.Met551Leu)	TCF7L1 (M551L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338138	NM_031283.3(TCF7L1):c.358C>T (p.Pro120Ser)	TCF7L1 (P120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319632	NM_031283.3(TCF7L1):c.1747G>A (p.Val583Ile)	TCF7L1 (V583I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319278	NM_031283.3(TCF7L1):c.695C>T (p.Pro232Leu)	TCF7L1 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307399	NM_031283.3(TCF7L1):c.470A>C (p.Asp157Ala)	TCF7L1 (D157A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251555	NM_031283.3(TCF7L1):c.1208G>A (p.Arg403Gln)	TCF7L1 (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227206	NM_031283.3(TCF7L1):c.1736C>G (p.Pro579Arg)	TCF7L1 (P579R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214816	NM_031283.3(TCF7L1):c.988G>A (p.Val330Met)	TCF7L1 (V330M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214255	NM_031283.3(TCF7L1):c.190G>A (p.Glu64Lys)	TCF7L1 (E64K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211507	NM_031283.3(TCF7L1):c.710C>G (p.Ser237Cys)	TCF7L1 (S237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1299932	NM_031283.3(TCF7L1):c.22GGC[6] (p.Gly14del)	TCF7L1 (G14del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1289588	NM_031283.3(TCF7L1):c.525+264A>G	TCF7L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283343	NM_031283.3(TCF7L1):c.442-218A>G	TCF7L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278934	NM_031283.3(TCF7L1):c.845+118C>A	TCF7L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277108	NM_031283.3(TCF7L1):c.525+76A>G	TCF7L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259370	NM_031283.3(TCF7L1):c.442-193G>A	TCF7L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243946	NM_031283.3(TCF7L1):c.846-178C>G	TCF7L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239616	NM_031283.3(TCF7L1):c.658+326T>C	TCF7L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237874	NM_031283.3(TCF7L1):c.658+242A>G	TCF7L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222639	NM_031283.3(TCF7L1):c.442-222_442-221insGCC	TCF7L1	Insertion (intron variant)	not provided	GBenign
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 814279	GRCh37/hg19 2p11.2(chr2:85401388-85615492)x3	RETSAT, TGOLN2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814278	GRCh37/hg19 2p11.2(chr2:85357332-85685465)x3	SH2D6, TCF7L1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 784988	NM_031283.3(TCF7L1):c.478T>A (p.Ser160Thr)	TCF7L1 (S160T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562661	GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3	MAT2A, TCF7L1 +22 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 151420	GRCh38/hg38 2p11.2(chr2:85179123-85369264)x3	ELMOD3, LOC102724579 +11 more	Copy number gain	See cases	GUncertain significance
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 66