ARRB2[gene] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	ALOX15, ANKFY1 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 148440	GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1	ALOX15, ANKFY1 +57 more	Copy number loss	See cases	GUncertain significance
Select item 2335097	NM_004313.4(ARRB2):c.38C>T (p.Ser13Leu)	ARRB2 (S13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715689	NM_004313.4(ARRB2):c.246C>T (p.Ile82=)	ARRB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2554319	NM_004313.4(ARRB2):c.287G>A (p.Arg96Gln)	ARRB2 (R96Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538239	NM_004313.4(ARRB2):c.340C>A (p.His114Asn)	ARRB2 (H99N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476814	NM_004313.4(ARRB2):c.443G>A (p.Arg148Gln)	ARRB2, LOC132090475 (R169Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129844	NM_004313.4(ARRB2):c.515T>C (p.Val172Ala)	ARRB2 (V157A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554697	NM_004313.4(ARRB2):c.617A>G (p.Lys206Arg)	ARRB2 (K227R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508480	NM_004313.4(ARRB2):c.647A>G (p.Asn216Ser)	ARRB2, LOC126862469 (N24S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2293938	NM_004313.4(ARRB2):c.747G>T (p.Gln249His)	ARRB2, LOC126862469 (Q57H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338069	NM_004313.4(ARRB2):c.847C>T (p.Arg283Trp)	ARRB2, LOC126862469 (R283W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 715690	NM_004313.4(ARRB2):c.864C>T (p.Leu288=)	ARRB2, LOC126862469	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2589182	NM_004313.4(ARRB2):c.918C>T (p.Ile306=)	ARRB2 (R263C)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3129846	NM_004313.4(ARRB2):c.992C>T (p.Ser331Phe)	ARRB2 (S331F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2270362	NM_004313.4(ARRB2):c.1061C>T (p.Pro354Leu)	ARRB2 (P375L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568586	NM_004313.4(ARRB2):c.1063C>T (p.Leu355Phe)	ARRB2 (L340F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129843	NM_004313.4(ARRB2):c.1084G>A (p.Ala362Thr)	ARRB2 (A359T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528030	NM_004313.4(ARRB2):c.1099G>A (p.Val367Ile)	ARRB2 (V367I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364747	NM_004313.4(ARRB2):c.1145C>T (p.Thr382Ile)	ARRB2 (T190I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314597	NM_004313.4(ARRB2):c.1216G>A (p.Asp406Asn)	ARRB2 (D427N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 1526562	GRCh37/hg19 17p13.2(chr17:4475016-4648525)	ALOX15, ARRB2 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic

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: 48