ClinVar for Gene (Select 4055) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292278	NM_002342.3(LTBR):c.688G>A (p.Val230Ile)	LTBR (V211I +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3292277	NM_002342.3(LTBR):c.171C>G (p.Ile57Met)	LTBR (I57M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292276	NM_002342.3(LTBR):c.959A>G (p.Gln320Arg)	LTBR (Q284R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3244331	NC_000012.11:g.(?_6438478)_(6950528_?)dup	ACRBP, CD27 +23 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 3121468	NM_002342.3(LTBR):c.793C>T (p.Arg265Cys)	LTBR (R244C +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121467	NM_002342.3(LTBR):c.52G>A (p.Val18Met)	LTBR (V18M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121466	NM_002342.3(LTBR):c.221G>A (p.Arg74His)	LTBR (R101H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2527112	NM_002342.3(LTBR):c.854C>A (p.Pro285Gln)	LTBR (P249Q +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527110	NM_002342.3(LTBR):c.853C>A (p.Pro285Thr)	LTBR (P249T +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517509	NM_002342.3(LTBR):c.937G>A (p.Val313Ile)	LTBR (V313I +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509205	NM_002342.3(LTBR):c.160C>G (p.Gln54Glu)	LTBR (Q54E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508618	NM_002342.3(LTBR):c.1294A>G (p.Ile432Val)	LTBR (I347V +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2464091	NM_002342.3(LTBR):c.625A>G (p.Thr209Ala)	LTBR (T188A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461929	NM_002342.3(LTBR):c.1181C>T (p.Pro394Leu)	LTBR (P358L +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2401893	NM_002342.3(LTBR):c.1118C>T (p.Pro373Leu)	LTBR (P352L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392400	NM_002342.3(LTBR):c.35T>A (p.Leu12Gln)	LTBR (L12Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374296	NM_002342.3(LTBR):c.913T>C (p.Ser305Pro)	LTBR (S269P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359616	NM_002342.3(LTBR):c.373C>G (p.Arg125Gly)	LTBR (R120G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317741	NM_002342.3(LTBR):c.181C>T (p.Arg61Cys)	LTBR (R61C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307933	NM_002342.3(LTBR):c.971C>T (p.Pro324Leu)	LTBR (P338L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267766	NM_002342.3(LTBR):c.566C>G (p.Thr189Ser)	LTBR (T209S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244230	NM_002342.3(LTBR):c.922C>G (p.Leu308Val)	LTBR (L287V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219401	NM_002342.3(LTBR):c.1117C>T (p.Pro373Ser)	LTBR (P337S +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215835	NM_002342.3(LTBR):c.794G>A (p.Arg265His)	LTBR (R244H +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	C3AR1, CD163 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1340559	GRCh37/hg19 12p13.31(chr12:6407226-6491280)x1	LTBR, PLEKHG6 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1242331	NC_000012.12:g.6377490T>C	LTBR, SCNN1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228146	NM_001159575.2(SCNN1A):c.-92A>G	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1191688	NM_001038.6(SCNN1A):c.-54-327A>G	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 882225	NM_001038.6(SCNN1A):c.-59G>C	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 789803	NM_002342.3(LTBR):c.437C>T (p.Ser146Phe)	LTBR (S127F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786603	NM_002342.3(LTBR):c.820G>A (p.Val274Ile)	LTBR (V255I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779945	NM_002342.3(LTBR):c.156G>A (p.Glu52=)	LTBR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773257	NM_002342.3(LTBR):c.246A>G (p.Thr82=)	LTBR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771181	NM_002342.3(LTBR):c.909A>G (p.Pro303=)	LTBR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726797	NM_002342.3(LTBR):c.97-9C>T	LTBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 723535	NM_002342.3(LTBR):c.384G>A (p.Pro128=)	LTBR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722300	NM_002342.3(LTBR):c.540C>T (p.Ser180=)	LTBR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710230	NM_002342.3(LTBR):c.685G>T (p.Ala229Ser)	LTBR (A210S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687386	GRCh37/hg19 12p13.31(chr12:6070459-6737675)x3	CD27, CD9 +14 more	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 591722	NM_001038.6(SCNN1A):c.-55+2T>C	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +2 more)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GConflicting classifications of pathogenicity
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 310162	NM_001038.5(SCNN1A):c.-186C>T	LTBR, SCNN1A	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +1 more	GLikely benign
Select item 310161	NM_001038.5(SCNN1A):c.-156C>T	LTBR, SCNN1A	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GLikely benign
Select item 310160	NM_001038.5(SCNN1A):c.-155G>A	LTBR, SCNN1A	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 310159	NM_001038.6(SCNN1A):c.-93A>G	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 310158	NM_001038.6(SCNN1A):c.-69C>T	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GBenign/Likely benign
Select item 310157	NM_001038.6(SCNN1A):c.-55+5G>C	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 91