ClinVar for Gene (Select 156) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102592	NM_001619.5(GRK2):c.1304G>A (p.Arg435Gln)	GRK2 (R435Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
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 2642012	NM_001619.5(GRK2):c.1902C>T (p.Cys634=)	GRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642011	NM_001619.5(GRK2):c.1100C>T (p.Ala367Val)	GRK2 (A367V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2374512	NM_001619.5(GRK2):c.362C>T (p.Ser121Leu)	GRK2 (S121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240812	NM_001619.5(GRK2):c.1583C>T (p.Thr528Ile)	GRK2 (T528I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219971	NM_001619.5(GRK2):c.1441G>A (p.Asp481Asn)	GRK2 (D481N)	Single nucleotide variant (missense variant)	not specified	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 1184832	NM_001619.5(GRK2):c.555+1G>A	GRK2	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 1184831	NM_001619.5(GRK2):c.1348_1349del (p.Ser450fs)	GRK2 (S450fs)	Microsatellite (frameshift variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 1184830	NM_001619.5(GRK2):c.469C>T (p.Leu157Phe)	GRK2 (L157F)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 776631	NM_001619.5(GRK2):c.2069G>A (p.Ter690=)	GRK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 764908	NM_001619.5(GRK2):c.1492-5T>A	GRK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 744642	NM_001619.5(GRK2):c.1153C>T (p.Leu385=)	GRK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720057	NM_001619.5(GRK2):c.1659C>T (p.Tyr553=)	GRK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
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
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 28