TFB1M[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	LOC115308161, LOC116183076 +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997593, LOC129997594 +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	TMEM242, TMEM242-DT +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	LOC126859906, LOC126859907 +539 more	Copy number loss	See cases	GPathogenic
Select item 2223442	NM_012454.4(TIAM2):c.3223G>A (p.Gly1075Ser)	TFB1M, TIAM2 (G1075S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3177330	NM_012454.4(TIAM2):c.3253C>T (p.Pro1085Ser)	TFB1M, TIAM2 (P1085S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397503	NM_012454.4(TIAM2):c.3257C>T (p.Pro1086Leu)	TFB1M, TIAM2 (P1086L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622555	NM_012454.4(TIAM2):c.3264G>T (p.Arg1088Ser)	TFB1M, TIAM2 (R1088S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778273	NM_012454.4(TIAM2):c.3265= (p.Ser1089=)	TFB1M, TIAM2 (P1089S)	Variation (no sequence alteration)	not provided	GBenign
Select item 3177331	NM_012454.4(TIAM2):c.3274C>T (p.Arg1092Cys)	TFB1M, TIAM2 (R17C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373731	NM_012454.4(TIAM2):c.3296G>A (p.Arg1099His)	TFB1M, TIAM2 (R24H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470893	NM_012454.4(TIAM2):c.3308T>G (p.Val1103Gly)	TFB1M, TIAM2 (V1103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177332	NM_012454.4(TIAM2):c.3343G>C (p.Val1115Leu)	TFB1M, TIAM2 (V1115L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177333	NM_012454.4(TIAM2):c.3350A>C (p.Asp1117Ala)	TFB1M, TIAM2 (D42A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177334	NM_012454.4(TIAM2):c.3398C>T (p.Thr1133Ile)	TFB1M, TIAM2 (T1133I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244602	NM_012454.4(TIAM2):c.3421G>C (p.Glu1141Gln)	TFB1M, TIAM2 (E1141Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177335	NM_012454.4(TIAM2):c.3450G>A (p.Met1150Ile)	TFB1M, TIAM2 (M1150I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246164	NM_012454.4(TIAM2):c.3481C>G (p.Leu1161Val)	TFB1M, TIAM2 (L1161V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266586	NM_012454.4(TIAM2):c.3650G>A (p.Arg1217Gln)	TFB1M, TIAM2 (R1217Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177337	NM_012454.4(TIAM2):c.3721C>G (p.Leu1241Val)	TFB1M, TIAM2 (L166V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618931	NM_012454.4(TIAM2):c.3860C>T (p.Ala1287Val)	TFB1M, TIAM2 (A1287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592137	NM_012454.4(TIAM2):c.3935G>A (p.Ser1312Asn)	TFB1M, TIAM2 (S237N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338054	NM_012454.4(TIAM2):c.3983T>C (p.Met1328Thr)	TFB1M, TIAM2 (M1328T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463928	NM_012454.4(TIAM2):c.3992C>T (p.Thr1331Met)	TFB1M, TIAM2 (T256M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229981	NM_012454.4(TIAM2):c.4133G>A (p.Arg1378Gln)	TFB1M, TIAM2 (R1378Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531926	NM_012454.4(TIAM2):c.4150A>G (p.Thr1384Ala)	TFB1M, TIAM2 (T309A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510267	NM_012454.4(TIAM2):c.4196C>T (p.Ala1399Val)	TFB1M, TIAM2 (A1399V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326368	NM_012454.4(TIAM2):c.4243A>G (p.Ile1415Val)	TFB1M, TIAM2 (I340V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025978	NM_012454.4(TIAM2):c.4314-8C>G	TFB1M, TIAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2312190	NM_012454.4(TIAM2):c.4319G>A (p.Ser1440Asn)	TFB1M, TIAM2 (S1440N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268930	NM_012454.4(TIAM2):c.4374C>A (p.Phe1458Leu)	TFB1M, TIAM2 (F1458L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532516	NM_012454.4(TIAM2):c.4375A>T (p.Arg1459Trp)	TFB1M, TIAM2 (R1459W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306767	NM_012454.4(TIAM2):c.4393G>A (p.Glu1465Lys)	TFB1M, TIAM2 (E390K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177340	NM_012454.4(TIAM2):c.4423C>T (p.Arg1475Cys)	TFB1M, TIAM2 (R400C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177341	NM_012454.4(TIAM2):c.4438A>C (p.Lys1480Gln)	TFB1M, TIAM2 (K1480Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177342	NM_012454.4(TIAM2):c.4557C>A (p.Asp1519Glu)	TFB1M, TIAM2 (D1519E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347599	NM_012454.4(TIAM2):c.4589G>A (p.Ser1530Asn)	TFB1M, TIAM2 (S455N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177344	NM_012454.4(TIAM2):c.4690G>C (p.Glu1564Gln)	TFB1M, TIAM2 (E489Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781889	NM_012454.4(TIAM2):c.4716T>A (p.Asp1572Glu)	TFB1M, TIAM2 (D1572E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3177345	NM_012454.4(TIAM2):c.4844C>T (p.Ser1615Leu)	TFB1M, TIAM2 (S540L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608380	NM_012454.4(TIAM2):c.4873C>T (p.Pro1625Ser)	TFB1M, TIAM2 (P550S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177346	NM_012454.4(TIAM2):c.4888G>A (p.Gly1630Arg)	TFB1M, TIAM2 (G1630R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311700	NM_012454.4(TIAM2):c.4955C>T (p.Ala1652Val)	TFB1M, TIAM2 (A577V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295835	NM_012454.4(TIAM2):c.4983T>A (p.Ser1661Arg)	TFB1M, TIAM2 (S1661R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262370	NM_012454.4(TIAM2):c.5093A>T (p.His1698Leu)	TFB1M, TIAM2 (H623L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177347	NM_012454.4(TIAM2):c.5095G>A (p.Gly1699Arg)	TFB1M, TIAM2 (G1699R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464342	NM_016020.4(TFB1M):c.935A>G (p.Asp312Gly)	TFB1M (D217G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176471	NM_016020.4(TFB1M):c.916G>A (p.Val306Ile)	TFB1M (V211I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176470	NM_016020.4(TFB1M):c.878G>A (p.Arg293His)	TFB1M (R198H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176469	NM_016020.4(TFB1M):c.817C>T (p.Arg273Cys)	TFB1M (R273C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402738	NM_016020.4(TFB1M):c.785G>A (p.Arg262Gln)	TFB1M (R262Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357769	NM_001001346.3(CLDN20):c.115A>G (p.Asn39Asp)	CLDN20, TFB1M (N39D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355178	NM_001001346.3(CLDN20):c.137A>G (p.Gln46Arg)	CLDN20, TFB1M (Q46R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284870	NM_001001346.3(CLDN20):c.145G>A (p.Gly49Arg)	CLDN20, TFB1M (G49R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145489	NM_001001346.3(CLDN20):c.164C>T (p.Thr55Met)	CLDN20, TFB1M (T55M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455703	NM_001001346.3(CLDN20):c.239C>T (p.Ala80Val)	CLDN20, TFB1M (A80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387440	NM_001001346.3(CLDN20):c.404C>T (p.Ser135Leu)	CLDN20, TFB1M (S135L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145490	NM_001001346.3(CLDN20):c.431T>C (p.Ile144Thr)	CLDN20, TFB1M (I144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494344	NM_001001346.3(CLDN20):c.455T>C (p.Val152Ala)	CLDN20, TFB1M (V152A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623520	NM_001001346.3(CLDN20):c.632C>A (p.Ser211Tyr)	CLDN20, TFB1M (S211Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517453	NM_001001346.3(CLDN20):c.644T>C (p.Leu215Pro)	CLDN20, TFB1M (L215P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304507	NM_016020.4(TFB1M):c.655C>T (p.Pro219Ser)	TFB1M (P124S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341714	NM_016020.4(TFB1M):c.620G>A (p.Arg207Gln)	TFB1M (R207Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297570	NM_016020.4(TFB1M):c.595A>G (p.Met199Val)	TFB1M (M199V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405946	NM_016020.4(TFB1M):c.578G>A (p.Arg193His)	TFB1M (R98H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478802	NM_016020.4(TFB1M):c.424C>A (p.Leu142Met)	TFB1M (L142M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375376	NM_016020.4(TFB1M):c.404A>G (p.Asn135Ser)	TFB1M (N40S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176468	NM_016020.4(TFB1M):c.322G>A (p.Val108Ile)	TFB1M (V13I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489931	NM_016020.4(TFB1M):c.290T>G (p.Leu97Arg)	TFB1M (L2R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532576	NM_016020.4(TFB1M):c.213A>T (p.Arg71Ser)	TFB1M (R71S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 710998	NM_016020.4(TFB1M):c.180C>T (p.Tyr60=)	TFB1M	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2533586	NM_016020.4(TFB1M):c.170C>T (p.Ala57Val)	TFB1M (A57V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221486	NM_016020.4(TFB1M):c.19C>T (p.Leu7Phe)	LOC129997507, TFB1M (L7F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592378	NM_016020.4(TFB1M):c.10T>C (p.Ser4Pro)	LOC129997507, TFB1M (S4P)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527310	GRCh37/hg19 6q25.3(chr6:155525920-159889169)	ARID1B, CLDN20 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527309	GRCh37/hg19 6q25.2-25.3(chr6:153647248-158255989)	ARID1B, CLDN20 +10 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527307	GRCh37/hg19 6q25.2-25.3(chr6:153180239-156377315)	CLDN20, CNKSR3 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1340803	GRCh37/hg19 6q25.2-25.3(chr6:153584880-157203309)x1	ARID1B, CLDN20 +7 more	Copy number loss	not provided	GPathogenic
Select item 1047882	GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005)	ARID1B, CLDN20 +6 more	Copy number loss	Corpus callosum, agenesis of +3 more	GPathogenic
Select item 814884	GRCh37/hg19 6q25.2-25.3(chr6:155405078-155584960)x1	TFB1M, TIAM2	Copy number loss	not provided	GUncertain significance
Select item 687133	GRCh37/hg19 6q25.2-25.3(chr6:154648703-156904256)x1	CLDN20, CNKSR3 +5 more	Copy number loss	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 685045	GRCh37/hg19 6q25.2-25.3(chr6:155426680-158863541)x3	TIAM2, TMEM242 +10 more	Copy number gain	not provided	GUncertain significance
Select item 563242	GRCh37/hg19 6q25.3(chr6:155635217-156806854)x3	TFB1M, NOX3	Copy number gain	not provided	GUncertain significance
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic

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Items: 98