ClinVar for Gene (Select 7047) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3176751	NM_003241.4(TGM4):c.805T>C (p.Trp269Arg)	TGM4 (W269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176749	NM_003241.4(TGM4):c.710A>G (p.Tyr237Cys)	TGM4 (Y237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176748	NM_003241.4(TGM4):c.614A>T (p.Asp205Val)	TGM4 (D205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176747	NM_003241.4(TGM4):c.488C>T (p.Thr163Met)	TGM4 (T163M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176746	NM_003241.4(TGM4):c.455A>T (p.Glu152Val)	TGM4 (E152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176745	NM_003241.4(TGM4):c.440T>C (p.Val147Ala)	TGM4 (V147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176744	NM_003241.4(TGM4):c.2012T>C (p.Val671Ala)	TGM4 (V671A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176743	NM_003241.4(TGM4):c.1966A>G (p.Lys656Glu)	TGM4 (K656E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176742	NM_003241.4(TGM4):c.1252G>A (p.Gly418Arg)	TGM4 (G418R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176741	NM_003241.4(TGM4):c.1220T>C (p.Leu407Ser)	TGM4 (L407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176740	NM_003241.4(TGM4):c.113G>A (p.Arg38Gln)	TGM4 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685915	GRCh37/hg19 3p21.31(chr3:44563378-45177006)x3	CDCP1, CLEC3B +12 more	Copy number gain	not provided	GUncertain significance
Select item 2685079	GRCh37/hg19 3p21.31(chr3:44857814-45025105)x1	EXOSC7, KIF15 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2681609	NM_003241.4(TGM4):c.294C>T (p.Gly98=)	TGM4	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2653727	NM_003241.4(TGM4):c.1540T>C (p.Leu514=)	TGM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611670	NM_003241.4(TGM4):c.1585A>T (p.Thr529Ser)	TGM4 (T529S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599582	NM_003241.4(TGM4):c.1018C>T (p.Pro340Ser)	TGM4 (P340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554182	NM_003241.4(TGM4):c.38T>C (p.Ile13Thr)	TGM4 (I13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533588	NM_003241.4(TGM4):c.617G>A (p.Arg206Lys)	TGM4 (R206K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518040	NM_003241.4(TGM4):c.776C>T (p.Thr259Met)	TGM4 (T259M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495807	NM_003241.4(TGM4):c.1236G>A (p.Met412Ile)	TGM4 (M412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494594	NM_003241.4(TGM4):c.1292G>A (p.Arg431Gln)	TGM4 (R431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480406	NM_003241.4(TGM4):c.992A>C (p.Asp331Ala)	TGM4 (D331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476131	NM_003241.4(TGM4):c.77C>T (p.Thr26Ile)	TGM4 (T26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466552	NM_003241.4(TGM4):c.1454G>A (p.Gly485Glu)	TGM4 (G485E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466138	NM_003241.4(TGM4):c.1069A>G (p.Ser357Gly)	TGM4 (S357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465580	NM_003241.4(TGM4):c.1858G>A (p.Val620Ile)	TGM4 (V620I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463547	NM_003241.4(TGM4):c.1589C>T (p.Ser530Leu)	TGM4 (S530L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395560	NM_003241.4(TGM4):c.1418T>C (p.Leu473Pro)	TGM4 (L473P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390050	NM_003241.4(TGM4):c.1055C>T (p.Thr352Met)	TGM4 (T352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368483	NM_003241.4(TGM4):c.863G>A (p.Ser288Asn)	TGM4 (S288N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365649	NM_003241.4(TGM4):c.1108G>A (p.Ala370Thr)	TGM4 (A370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362460	NM_003241.4(TGM4):c.648G>A (p.Met216Ile)	TGM4 (M216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344029	NM_003241.4(TGM4):c.1159T>C (p.Ser387Pro)	TGM4 (S387P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338226	NM_003241.4(TGM4):c.949A>C (p.Ser317Arg)	TGM4 (S317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294210	NM_003241.4(TGM4):c.527G>A (p.Cys176Tyr)	TGM4 (C176Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282289	NM_003241.4(TGM4):c.1687G>C (p.Gly563Arg)	TGM4 (G563R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276916	NM_003241.4(TGM4):c.1820G>T (p.Cys607Phe)	TGM4 (C607F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271721	NM_003241.4(TGM4):c.733A>G (p.Lys245Glu)	TGM4 (K245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268446	NM_003241.4(TGM4):c.1453G>C (p.Gly485Arg)	TGM4 (G485R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259496	NM_003241.4(TGM4):c.1879C>G (p.Leu627Val)	TGM4 (L627V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249311	NM_003241.4(TGM4):c.1909C>T (p.His637Tyr)	TGM4 (H637Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212913	NM_003241.4(TGM4):c.898A>G (p.Arg300Gly)	TGM4 (R300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	ALS2CL, ARIH2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1184858	NM_003241.4(TGM4):c.806G>A (p.Trp269Ter)	TGM4 (W269*)	Single nucleotide variant (nonsense)	Essential tremor	GLikely pathogenic
Select item 814439	GRCh37/hg19 3p21.31(chr3:44444902-45413927)x1	CDCP1, CLEC3B +16 more	Copy number loss	not provided	GUncertain significance
Select item 775864	NM_003241.4(TGM4):c.63C>T (p.Ala21=)	TGM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770521	NM_003241.4(TGM4):c.1115G>A (p.Arg372His)	TGM4 (R372H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767904	NM_003241.4(TGM4):c.1182C>T (p.Leu394=)	TGM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710920	NM_003241.4(TGM4):c.109C>A (p.Arg37=)	TGM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 54