HEATR3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 64

	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	LINC02128, LINC02133 +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	LOC110120583, LOC110120584 +136 more	Copy number loss	See cases	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 59489	GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1	LOC129390791, LOC129390792 +97 more	Copy number loss	See cases	GPathogenic
Select item 2327837	NM_182922.4(HEATR3):c.39G>C (p.Gln13His)	HEATR3, HEATR3-AS1 (Q13H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2590568	NM_182922.4(HEATR3):c.119C>G (p.Ala40Gly)	HEATR3, HEATR3-AS1 (A40G)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2512533	NM_182922.4(HEATR3):c.143A>T (p.Gln48Leu)	HEATR3 (Q48L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2485589	NM_182922.4(HEATR3):c.143A>G (p.Gln48Arg)	HEATR3 (Q48R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2381631	NM_182922.4(HEATR3):c.227C>T (p.Ala76Val)	HEATR3, LOC130058980 (A76V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2394207	NM_182922.4(HEATR3):c.245G>A (p.Arg82His)	HEATR3, LOC130058980 (R82H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2316434	NM_182922.4(HEATR3):c.248G>C (p.Arg83Pro)	HEATR3, LOC130058980 (R83P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2482091	NM_182922.4(HEATR3):c.389T>A (p.Leu130Gln)	HEATR3 (L13Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1334102	NM_182922.4(HEATR3):c.399+1G>T	HEATR3	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 1	GPathogenic
Select item 1300197	NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg)	HEATR3 (C134R +1 more)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 21 +1 more	GPathogenic
Select item 2560263	NM_182922.4(HEATR3):c.409G>A (p.Gly137Arg)	HEATR3 (G20R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2311685	NM_182922.4(HEATR3):c.592C>T (p.Pro198Ser)	HEATR3 (P198S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2601606	NM_182922.4(HEATR3):c.598A>G (p.Asn200Asp)	HEATR3 (N200D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1334103	NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu)	HEATR3 (P123L +2 more)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 1	GPathogenic
Select item 2611746	NM_182922.4(HEATR3):c.974A>G (p.Asp325Gly)	HEATR3 (D325G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213138	NM_182922.4(HEATR3):c.995A>C (p.His332Pro)	HEATR3 (H101P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517164	NM_182922.4(HEATR3):c.1007T>C (p.Val336Ala)	HEATR3 (V105A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388059	NM_182922.4(HEATR3):c.1030G>A (p.Asp344Asn)	HEATR3 (D344N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540808	NM_182922.4(HEATR3):c.1069A>G (p.Ile357Val)	HEATR3 (I126V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557607	NM_182922.4(HEATR3):c.1085C>G (p.Ala362Gly)	HEATR3 (A245G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358109	NM_182922.4(HEATR3):c.1109T>C (p.Ile370Thr)	HEATR3 (I370T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507762	NM_182922.4(HEATR3):c.1127A>G (p.Asn376Ser)	HEATR3 (N259S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2460649	NM_182922.4(HEATR3):c.1151G>C (p.Trp384Ser)	HEATR3 (W153S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478471	NM_182922.4(HEATR3):c.1192G>C (p.Glu398Gln)	HEATR3 (E167Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488151	NM_182922.4(HEATR3):c.1259C>T (p.Thr420Met)	HEATR3 (T303M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519630	NM_182922.4(HEATR3):c.1271A>G (p.Asn424Ser)	HEATR3 (N193S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1321318	NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr)	HEATR3 (C215Y +2 more)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 2399379	NM_182922.4(HEATR3):c.1381A>G (p.Thr461Ala)	HEATR3 (T230A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556807	NM_182922.4(HEATR3):c.1508C>G (p.Pro503Arg)	HEATR3 (P503R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2581172	NM_182922.4(HEATR3):c.1523A>G (p.His508Arg)	HEATR3 (H277R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259063	NM_182922.4(HEATR3):c.1565T>A (p.Leu522His)	HEATR3 (L522H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589190	NM_182922.4(HEATR3):c.1576A>G (p.Met526Val)	HEATR3 (M295V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342118	NM_182922.4(HEATR3):c.1583C>G (p.Ser528Cys)	HEATR3 (S411C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295691	NM_182922.4(HEATR3):c.1660G>A (p.Gly554Arg)	HEATR3 (G323R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1315571	NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu)	HEATR3 (G353E +2 more)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 21 +1 more	GPathogenic/Likely pathogenic
Select item 2513972	NM_182922.4(HEATR3):c.1852G>A (p.Glu618Lys)	HEATR3 (E501K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2672636	NM_182922.4(HEATR3):c.1894G>C (p.Glu632Gln)	HEATR3 (E401Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2269961	NM_182922.4(HEATR3):c.1954G>C (p.Asp652His)	HEATR3 (D652H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2426049	NC_000016.9:g.(?_49525186)_(51631253_?)dup	BRD7, CNEP1R1 +9 more	Duplication	Nephronophthisis 14	GUncertain significance
Select item 2426048	NC_000016.9:g.(?_49525186)_(51631253_?)del	SNX20, TENT4B +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	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 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	KCTD13, KCTD19 +810 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 64