TENT4B[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	ADCY7, BRD7 +136 more	Copy number loss	See cases	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 59489	GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1	ADCY7, BRD7 +97 more	Copy number loss	See cases	GPathogenic
Select item 3176036	NM_001040284.3(TENT4B):c.4C>T (p.Arg2Trp)	TENT4B (R2W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176020	NM_001365324.3(TENT4B):c.186C>G (p.Ser62Arg)	LOC130058984, TENT4B (S42R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176023	NM_001365324.3(TENT4B):c.220T>C (p.Ser74Pro)	LOC130058984, TENT4B (S74P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569439	NM_001365324.3(TENT4B):c.232C>T (p.Pro78Ser)	LOC130058984, TENT4B (P78S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569440	NM_001365324.3(TENT4B):c.277A>G (p.Ser93Gly)	TENT4B (S93G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569442	NM_001365324.3(TENT4B):c.287T>A (p.Leu96Gln)	TENT4B (L81Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176029	NM_001365324.3(TENT4B):c.314C>T (p.Pro105Leu)	TENT4B (P105L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176030	NM_001365324.3(TENT4B):c.335A>G (p.Asn112Ser)	TENT4B (N92S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176031	NM_001365324.3(TENT4B):c.340A>C (p.Asn114His)	TENT4B (N114H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534391	NM_001365324.3(TENT4B):c.356G>C (p.Gly119Ala)	LOC130058985, TENT4B (G99A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176032	NM_001365324.3(TENT4B):c.449C>T (p.Pro150Leu)	LOC130058985, TENT4B (P135L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176033	NM_001365324.3(TENT4B):c.472A>G (p.Ser158Gly)	LOC130058985, TENT4B (S143G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176034	NM_001365324.3(TENT4B):c.520T>C (p.Tyr174His)	LOC130058985, TENT4B (Y174H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176035	NM_001365324.3(TENT4B):c.538A>G (p.Ser180Gly)	TENT4B (S160G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508664	NM_001365324.3(TENT4B):c.566G>A (p.Arg189Gln)	TENT4B (R169Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534392	NM_001365324.3(TENT4B):c.573C>G (p.Asp191Glu)	TENT4B (D176E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534393	NM_001365324.3(TENT4B):c.577G>A (p.Gly193Ser)	TENT4B (G173S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534394	NM_001365324.3(TENT4B):c.584T>G (p.Val195Gly)	TENT4B (V180G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176038	NM_001365324.3(TENT4B):c.733G>A (p.Val245Ile)	TENT4B (V225I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621950	NM_001365324.3(TENT4B):c.739A>G (p.Lys247Glu)	TENT4B (K227E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491061	NM_001365324.3(TENT4B):c.1199A>G (p.Asn400Ser)	TENT4B (N385S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176019	NM_001365324.3(TENT4B):c.1447G>A (p.Val483Ile)	TENT4B (V463I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176021	NM_001365324.3(TENT4B):c.1594C>T (p.Pro532Ser)	TENT4B (P532S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473810	NM_001365324.3(TENT4B):c.1607G>A (p.Cys536Tyr)	TENT4B (C516Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176022	NM_001365324.3(TENT4B):c.1690C>T (p.Leu564Phe)	TENT4B (L544F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176024	NM_001365324.3(TENT4B):c.1829C>T (p.Pro610Leu)	TENT4B (P548L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043701	NM_001365324.3(TENT4B):c.1858_1860del (p.Gly620del)	TENT4B (G558del +3 more)	Deletion (inframe deletion)	TENT4B-related disorder	GLikely benign
Select item 2588008	NM_001365324.3(TENT4B):c.1862A>G (p.Asn621Ser)	TENT4B (N606S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467088	NM_001365324.3(TENT4B):c.1958A>G (p.Lys653Arg)	TENT4B (K591R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176026	NM_001365324.3(TENT4B):c.1981C>A (p.Leu661Ile)	TENT4B (L599I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176027	NM_001365324.3(TENT4B):c.2002G>T (p.Gly668Cys)	TENT4B (G606C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044728	NM_001365324.3(TENT4B):c.2055A>T (p.Gln685His)	TENT4B (Q623H +3 more)	Single nucleotide variant (missense variant)	TENT4B-related disorder	GLikely benign
Select item 3176028	NM_001365324.3(TENT4B):c.2116G>A (p.Ala706Thr)	TENT4B (A644T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426049	NC_000016.9:g.(?_49525186)_(51631253_?)dup	ADCY7, BRD7 +9 more	Duplication	Nephronophthisis 14	GUncertain significance
Select item 2426048	NC_000016.9:g.(?_49525186)_(51631253_?)del	ADCY7, BRD7 +9 more	Deletion	Nephronophthisis 14	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1707624	GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1	ADCY7, SNX20 +7 more	Copy number loss	Syndromic anorectal malformation	Gassociation
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 688289	GRCh37/hg19 16q12.1(chr16:49966361-50215920)x3	CNEP1R1, HEATR3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442863	GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1	ABCC11, ABCC12 +23 more	Copy number loss	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 59