ClinVar for Gene (Select 440387) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270168	NM_001025200.4(CTRB2):c.31G>A (p.Ala11Thr)	CTRB2 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270167	NM_001025200.4(CTRB2):c.553G>A (p.Glu185Lys)	CTRB2 (E185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078731	NM_001025200.4(CTRB2):c.689T>C (p.Ile230Thr)	CTRB2 (I230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078730	NM_001025200.4(CTRB2):c.628A>G (p.Met210Val)	CTRB2 (M210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078729	NM_001025200.4(CTRB2):c.581T>A (p.Ile194Asn)	CTRB2 (I194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063404	GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1	BCAR1, CFDP1 +13 more	Copy number loss	not specified	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2520874	NM_001025200.4(CTRB2):c.604G>A (p.Gly202Arg)	CTRB2 (G202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514570	NM_001025200.4(CTRB2):c.61G>A (p.Val21Ile)	CTRB2 (V21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511409	NM_001025200.4(CTRB2):c.499A>T (p.Asn167Tyr)	CTRB2 (N167Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469937	NM_001025200.4(CTRB2):c.70A>G (p.Ile24Val)	CTRB2 (I24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456390	NM_001025200.4(CTRB2):c.171C>G (p.Phe57Leu)	CTRB2 (F57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426812	NC_000016.9:g.(?_74485954)_(75339100_?)dup	BCAR1, CFDP1 +10 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2394637	NM_001025200.4(CTRB2):c.127G>A (p.Gly43Ser)	CTRB2 (G43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392079	NM_001025200.4(CTRB2):c.283G>A (p.Glu95Lys)	CTRB2 (E95K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385161	NM_001025200.4(CTRB2):c.14G>T (p.Trp5Leu)	CTRB2 (W5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313587	NM_001025200.4(CTRB2):c.287A>G (p.Glu96Gly)	CTRB2 (E96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302425	NM_001025200.4(CTRB2):c.535C>G (p.Pro179Ala)	CTRB2 (P179A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299532	NM_001025200.4(CTRB2):c.41G>C (p.Gly14Ala)	CTRB2 (G14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299012	NM_001025200.4(CTRB2):c.742C>T (p.Arg248Cys)	CTRB2 (R248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293556	NM_001025200.4(CTRB2):c.707G>A (p.Arg236His)	CTRB2 (R236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269101	NM_001025200.4(CTRB2):c.594G>A (p.Met198Ile)	CTRB2 (M198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242752	NM_001025200.4(CTRB2):c.706C>G (p.Arg236Gly)	CTRB2 (R236G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809475	GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	ADAT1, BCAR1 +21 more	Copy number loss	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1809163	GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	ADAT1, BCAR1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807659	GRCh37/hg19 16q23.1(chr16:75164013-75256868)x1	CTRB1, CTRB2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1459206	NC_000016.9:g.(?_74748068)_(75513746_?)del	BCAR1, CFDP1 +9 more	Deletion	Macular corneal dystrophy	GPathogenic
Select item 979473	GRCh37/hg19 16q23.1(chr16:75064591-75549654)x1	ZFP1, BCAR1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815833	GRCh37/hg19 16q23.1(chr16:74999819-75248871)x4	ZFP1, CTRB2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815831	GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1	WDR59, NPIPB15 +12 more	Copy number loss	not provided	GUncertain significance
Select item 787983	NM_001025200.4(CTRB2):c.423G>A (p.Leu141=)	CTRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687487	GRCh37/hg19 16q23.1(chr16:75225021-75533658)x3	BCAR1, CFDP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686376	GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	ADAMTS18, ADAT1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +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	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441933	GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1	ADAT1, BCAR1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 153591	GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3	BCAR1, CFDP1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 146037	GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1	BCAR1, CFDP1 +42 more	Copy number loss	See cases	GUncertain significance
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 60021	GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3	BCAR1, CFDP1 +60 more	Copy number gain	See cases	GUncertain significance
Select item 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67