ClinVar for Gene (Select 148362) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261854	NM_144695.4(BROX):c.1183G>A (p.Val395Met)	BROX (V363M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261853	NM_144695.4(BROX):c.1070A>C (p.Glu357Ala)	BROX (E301A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261852	NM_144695.4(BROX):c.56A>G (p.Asn19Ser)	BROX (N19S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261851	NM_144695.4(BROX):c.227A>G (p.Asp76Gly)	BROX (D76G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3135105	NM_144695.4(BROX):c.598A>G (p.Ile200Val)	BROX (I144V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135104	NM_144695.4(BROX):c.287T>G (p.Leu96Trp)	BROX (L40W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135103	NM_144695.4(BROX):c.272A>G (p.Lys91Arg)	BROX (K91R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	GUncertain significance
Select item 2610631	NM_144695.4(BROX):c.638C>T (p.Ala213Val)	BROX (A181V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604833	NM_144695.4(BROX):c.842A>T (p.Tyr281Phe)	BROX (Y225F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405721	NM_144695.4(BROX):c.220T>A (p.Ser74Thr)	BROX (S18T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402267	NM_144695.4(BROX):c.1160A>G (p.Lys387Arg)	BROX (N334D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384255	NM_144695.4(BROX):c.1066T>G (p.Phe356Val)	BROX (F324V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376129	NM_144695.4(BROX):c.506C>T (p.Ala169Val)	BROX (A137V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277342	NM_144695.4(BROX):c.338C>A (p.Ser113Tyr)	BROX (S57Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252728	NM_144695.4(BROX):c.1009A>G (p.Thr337Ala)	BROX (T281A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527570	GRCh37/hg19 1q41(chr1:222153928-223209242)	AIDA, BROX +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 979933	GRCh37/hg19 1q41(chr1:222872455-223180337)x1	FAM177B, BROX +2 more	Copy number loss	not provided	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 787756	NM_144695.4(BROX):c.160C>A (p.Pro54Thr)	BROX (P54T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780093	NM_144695.4(BROX):c.507G>A (p.Ala169=)	BROX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 148650	GRCh38/hg38 1q41(chr1:221979950-223007060)x3	AIDA, BROX +34 more	Copy number gain	See cases	GUncertain significance
Select item 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	See cases	GPathogenic
Select item 146329	GRCh38/hg38 1q41(chr1:222676842-223882311)x1	AIDA, BROX +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49