Related gene-specific medical variations for Gene (Select 51106) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025978	NM_012454.4(TIAM2):c.4314-8C>G	TFB1M, TIAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2623520	NM_001001346.3(CLDN20):c.632C>A (p.Ser211Tyr)	CLDN20, TFB1M (S211Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622555	NM_012454.4(TIAM2):c.3264G>T (p.Arg1088Ser)	TFB1M, TIAM2 (R1088S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618931	NM_012454.4(TIAM2):c.3860C>T (p.Ala1287Val)	TFB1M, TIAM2 (A1287V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2592378	NM_016020.4(TFB1M):c.10T>C (p.Ser4Pro)	LOC129997507, TFB1M (S4P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2592137	NM_012454.4(TIAM2):c.3935G>A (p.Ser1312Asn)	TFB1M, TIAM2 (S237N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532516	NM_012454.4(TIAM2):c.4375A>T (p.Arg1459Trp)	TFB1M, TIAM2 (R1459W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531926	NM_012454.4(TIAM2):c.4150A>G (p.Thr1384Ala)	TFB1M, TIAM2 (T309A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2517453	NM_001001346.3(CLDN20):c.644T>C (p.Leu215Pro)	CLDN20, TFB1M (L215P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510267	NM_012454.4(TIAM2):c.4196C>T (p.Ala1399Val)	TFB1M, TIAM2 (A1399V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494344	NM_001001346.3(CLDN20):c.455T>C (p.Val152Ala)	CLDN20, TFB1M (V152A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470893	NM_012454.4(TIAM2):c.3308T>G (p.Val1103Gly)	TFB1M, TIAM2 (V1103G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463928	NM_012454.4(TIAM2):c.3992C>T (p.Thr1331Met)	TFB1M, TIAM2 (T256M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455703	NM_001001346.3(CLDN20):c.239C>T (p.Ala80Val)	CLDN20, TFB1M (A80V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397503	NM_012454.4(TIAM2):c.3257C>T (p.Pro1086Leu)	TFB1M, TIAM2 (P1086L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387440	NM_001001346.3(CLDN20):c.404C>T (p.Ser135Leu)	CLDN20, TFB1M (S135L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373731	NM_012454.4(TIAM2):c.3296G>A (p.Arg1099His)	TIAM2, TFB1M (R24H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357769	NM_001001346.3(CLDN20):c.115A>G (p.Asn39Asp)	CLDN20, TFB1M (N39D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355178	NM_001001346.3(CLDN20):c.137A>G (p.Gln46Arg)	CLDN20, TFB1M (Q46R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347599	NM_012454.4(TIAM2):c.4589G>A (p.Ser1530Asn)	TIAM2, TFB1M (S455N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338054	NM_012454.4(TIAM2):c.3983T>C (p.Met1328Thr)	TIAM2, TFB1M (M1328T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326368	NM_012454.4(TIAM2):c.4243A>G (p.Ile1415Val)	TIAM2, TFB1M (I340V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312190	NM_012454.4(TIAM2):c.4319G>A (p.Ser1440Asn)	TIAM2, TFB1M (S1440N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2306767	NM_012454.4(TIAM2):c.4393G>A (p.Glu1465Lys)	TIAM2, TFB1M (E390K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295835	NM_012454.4(TIAM2):c.4983T>A (p.Ser1661Arg)	TIAM2, TFB1M (S1661R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284870	NM_001001346.3(CLDN20):c.145G>A (p.Gly49Arg)	TFB1M, CLDN20 (G49R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268930	NM_012454.4(TIAM2):c.4374C>A (p.Phe1458Leu)	TIAM2, TFB1M (F1458L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266586	NM_012454.4(TIAM2):c.3650G>A (p.Arg1217Gln)	TFB1M, TIAM2 (R1217Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262370	NM_012454.4(TIAM2):c.5093A>T (p.His1698Leu)	TIAM2, TFB1M (H623L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246164	NM_012454.4(TIAM2):c.3481C>G (p.Leu1161Val)	TFB1M, TIAM2 (L1161V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244602	NM_012454.4(TIAM2):c.3421G>C (p.Glu1141Gln)	TIAM2, TFB1M (E1141Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229981	NM_012454.4(TIAM2):c.4133G>A (p.Arg1378Gln)	TFB1M, TIAM2 (R1378Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223442	NM_012454.4(TIAM2):c.3223G>A (p.Gly1075Ser)	TFB1M, TIAM2 (G1075S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2221486	NM_016020.4(TFB1M):c.19C>T (p.Leu7Phe)	LOC129997507, TFB1M (L7F)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	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 778273	NM_012454.4(TIAM2):c.3265= (p.Ser1089=)	TFB1M, TIAM2 (P1089S)	Variation (no sequence alteration)	not provided	GBenign

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Links from Gene

Items: 38