ClinVar for Gene (Select 5562) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218691	NM_006251.6(PRKAA1):c.734C>T (p.Pro245Leu)	PRKAA1 (P260L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218690	NM_006251.6(PRKAA1):c.403C>G (p.Leu135Val)	PRKAA1 (L109V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218689	NM_006251.6(PRKAA1):c.363+468G>T	PRKAA1 (G132C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3218688	NM_006251.6(PRKAA1):c.1518T>G (p.Ser506Arg)	PRKAA1 (S521R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218687	NM_006251.6(PRKAA1):c.1430T>G (p.Ile477Ser)	PRKAA1 (I219S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2589897	NM_006251.6(PRKAA1):c.1589C>T (p.Ser530Phe)	PRKAA1 (S504F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552466	NM_006251.6(PRKAA1):c.1451C>G (p.Ala484Gly)	PRKAA1 (A226G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493956	NM_006251.6(PRKAA1):c.1610C>T (p.Pro537Leu)	PRKAA1 (P511L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411686	NM_006251.6(PRKAA1):c.1481C>T (p.Ser494Leu)	PRKAA1 (S468L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378497	NM_006251.6(PRKAA1):c.53A>C (p.His18Pro)	PRKAA1 (H18P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2306922	NM_006251.6(PRKAA1):c.1348C>A (p.Pro450Thr)	PRKAA1 (P450T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278923	NM_006251.6(PRKAA1):c.1067G>A (p.Ser356Asn)	PRKAA1 (S330N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261020	NM_006251.6(PRKAA1):c.1438G>A (p.Glu480Lys)	PRKAA1 (E336K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 814684	GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3	GHR, CARD6 +31 more	Copy number gain	not provided	GPathogenic
Select item 764979	NM_006251.6(PRKAA1):c.1160A>G (p.His387Arg)	PRKAA1 (H243R +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 731718	NM_006251.6(PRKAA1):c.552T>C (p.Ser184=)	PRKAA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 725539	NM_006251.6(PRKAA1):c.945A>G (p.Glu315=)	PRKAA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719129	NM_006251.6(PRKAA1):c.1286A>G (p.Lys429Arg)	PRKAA1 (K171R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 549598	NM_006251.6(PRKAA1):c.128-8015_128-1544del	LOC111556114, PRKAA1	Deletion (intron variant +3 more)	Primary amenorrhea	GUncertain significance
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39