ARRB1[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 2526143	NM_004041.5(ARRB1):c.1252A>G (p.Arg418Gly)	ARRB1 (R410G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520676	NM_004041.5(ARRB1):c.1108A>T (p.Thr370Ser)	ARRB1 (T362S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129836	NM_004041.5(ARRB1):c.1078C>G (p.Pro360Ala)	ARRB1 (P360A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467279	NM_004041.5(ARRB1):c.1027G>A (p.Val343Met)	ARRB1 (V343M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410847	NM_004041.5(ARRB1):c.934C>T (p.Arg312Cys)	ARRB1 (R312C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517196	NM_004041.5(ARRB1):c.932A>G (p.Asn311Ser)	ARRB1 (N311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129842	NM_004041.5(ARRB1):c.722T>C (p.Ile241Thr)	ARRB1 (I241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549843	NM_004041.5(ARRB1):c.652G>A (p.Val218Ile)	ARRB1 (V218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129841	NM_004041.5(ARRB1):c.531G>T (p.Arg177Ser)	ARRB1 (R177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129840	NM_004041.5(ARRB1):c.461T>C (p.Leu154Ser)	ARRB1 (L154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129839	NM_004041.5(ARRB1):c.392C>T (p.Pro131Leu)	ARRB1 (P131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300659	NM_004041.5(ARRB1):c.386T>G (p.Leu129Arg)	ARRB1 (L129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129838	NM_004041.5(ARRB1):c.295C>T (p.Arg99Trp)	ARRB1 (R99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316126	NM_004041.5(ARRB1):c.293C>A (p.Thr98Lys)	ARRB1 (T98K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129837	NM_004041.5(ARRB1):c.286C>G (p.Pro96Ala)	ARRB1 (P96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318722	NM_004041.5(ARRB1):c.263C>T (p.Pro88Leu)	ARRB1 (P88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383587	NM_004041.5(ARRB1):c.244G>T (p.Ala82Ser)	ARRB1 (A82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221148	NM_004041.5(ARRB1):c.244G>A (p.Ala82Thr)	ARRB1 (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316136	NM_004041.5(ARRB1):c.121G>T (p.Val41Phe)	ARRB1 (V41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527651	GRCh37/hg19 11q13.4-13.5(chr11:74839014-75366449)	ARRB1, GDPD5 +8 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 29