CTRB1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	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 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
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 60021	GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3	BCAR1, CFDP1 +60 more	Copy number gain	See cases	GUncertain significance
Select item 153591	GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3	BCAR1, CFDP1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 146037	GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1	BCAR1, CFDP1 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2268621	NM_001025200.4(CTRB2):c.8= (p.Phe3=)	CTRB1 (S3F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2319851	NM_001025200.4(CTRB2):c.19C>T (p.Leu7Phe)	CTRB1 (L7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553972	NM_001025200.4(CTRB2):c.30= (p.Trp10=)	CTRB1 (F10L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458469	NM_001025200.4(CTRB2):c.73C>A (p.His25Asn)	CTRB1 (H25N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617472	NM_001025200.4(CTRB2):c.98G>A (p.Arg33Lys)	CTRB1 (R33K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344919	NM_001025200.4(CTRB2):c.121G>A (p.Val41Ile)	CTRB1 (V41I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601249	NM_001025200.4(CTRB2):c.122T>C (p.Val41Ala)	CTRB1 (V41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294656	NM_001025200.4(CTRB2):c.166G>A (p.Gly56Ser)	CTRB1 (G56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646870	NM_001025200.4(CTRB2):c.198C>T (p.Ser66=)	CTRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2354859	NM_001025200.4(CTRB2):c.229G>A (p.Gly77Arg)	CTRB1 (G77R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468621	NM_001025200.4(CTRB2):c.253G>A (p.Val85Met)	CTRB1 (V85M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255012	NM_001025200.4(CTRB2):c.311C>A (p.Ala104Asp)	CTRB1 (A104D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359803	NM_001025200.4(CTRB2):c.412G>A (p.Ala138Thr)	CTRB1 (A138T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310475	NM_001025200.4(CTRB2):c.530C>T (p.Ala177Val)	CTRB1 (A177V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402899	NM_001025200.4(CTRB2):c.566C>T (p.Ser189Phe)	CTRB1 (S189F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2402901	NM_001025200.4(CTRB2):c.578G>A (p.Arg193Lys)	CTRB1 (R193K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2207582	NM_001025200.4(CTRB2):c.586G>A (p.Asp196Asn)	CTRB1 (D196N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255237	NM_001025200.4(CTRB2):c.590T>C (p.Val197Ala)	CTRB1 (V197A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484738	NM_001906.6(CTRB1):c.604G>A (p.Gly202Arg)	CTRB1 (G202R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 161585	NM_001906.6(CTRB1):c.633C>T (p.Gly211=)	CTRB1 (R167*)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2323339	NM_001025200.4(CTRB2):c.637T>C (p.Ser213Pro)	CTRB1 (S213P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364797	NM_001025200.4(CTRB2):c.643G>A (p.Gly215Ser)	CTRB1 (G215S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273448	NM_001025200.4(CTRB2):c.706C>A (p.Arg236Ser)	CTRB1 (D236N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537918	NM_001906.4:c.742C>T	CTRB1 (P203L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297913	NM_001025200.4(CTRB2):c.773A>C (p.Lys258Thr)	CTRB1 (K258T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2426812	NC_000016.9:g.(?_74485954)_(75339100_?)dup	BCAR1, CTRB1 +10 more	Duplication	Spastic paraplegia	GUncertain significance
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	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
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 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 815831	GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1	WDR59, NPIPB15 +12 more	Copy number loss	not provided	GUncertain significance
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	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 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 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ADGRG3 +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	KCTD13, KCTD19 +810 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	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 70