AMY2A[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 152864	GRCh38/hg38 1p21.1(chr1:102983807-105059200)x1	AMY1A, AMY1B +12 more	Copy number loss	See cases	GUncertain significance
Select item 151709	GRCh38/hg38 1p21.1(chr1:103082841-103618409)x3	AMY2A, AMY2B +6 more	Copy number gain	See cases	GUncertain significance
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 146629	GRCh38/hg38 1p21.1(chr1:103280931-103754679)x1	AMY1A, AMY1B +8 more	Copy number loss	See cases	GBenign
Select item 150693	GRCh38/hg38 1p21.1-13.3(chr1:103474348-106724941)x1	AMY1A, AMY1B +15 more	Copy number loss	See cases	GUncertain significance
Select item 147581	GRCh38/hg38 1p21.1(chr1:103549695-104099415)x1	AMY1A, AMY1B +4 more	Copy number loss	See cases	GBenign
Select item 147238	GRCh38/hg38 1p21.1(chr1:103564937-103621159)x3	AMY2A, AMY2B	Copy number gain	See cases	GBenign
Select item 154638	GRCh38/hg38 1p21.1(chr1:103582313-103754679)x3	AMY1A, AMY1B +2 more	Copy number gain	See cases	GBenign
Select item 156745	Single allele	AMY1A, AMY2A	Deletion	Large for gestational age +2 more	Gnot provided
Select item 156748	Single allele	AMY1A, AMY2A	Deletion	Normal pregnancy +1 more	Gnot provided
Select item 2273418	NM_000699.4(AMY2A):c.52T>C (p.Ser18Pro)	AMY2A (S18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526715	NM_000699.4(AMY2A):c.73C>T (p.Arg25Trp)	AMY2A (R25W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342111	NM_000699.4(AMY2A):c.145C>G (p.Pro49Ala)	AMY2A (P49A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775571	NM_000699.4(AMY2A):c.296C>A (p.Thr99Asn)	AMY2A (T99N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 154910	GRCh38/hg38 1p21.1(chr1:103618352-103668450)x1	AMY1A, AMY2A	Copy number loss	See cases	GLikely benign
Select item 149619	GRCh38/hg38 1p21.1(chr1:103618352-103647508)x3	AMY2A	Copy number gain	See cases	GLikely benign
Select item 147190	GRCh38/hg38 1p21.1(chr1:103618379-103668405)x3	AMY1A, AMY2A	Copy number gain	See cases	GBenign
Select item 2355793	NM_000699.4(AMY2A):c.335C>A (p.Ala112Asp)	AMY2A (A112D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774798	NM_000699.4(AMY2A):c.360C>T (p.Asn120=)	AMY2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2566598	NM_000699.4(AMY2A):c.538C>A (p.Leu180Ile)	AMY2A (L180I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326958	NM_000699.4(AMY2A):c.545A>G (p.Asp182Gly)	AMY2A (D182G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516073	NM_000699.4(AMY2A):c.568G>A (p.Val190Met)	AMY2A (V190M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400118	NM_000699.4(AMY2A):c.733A>T (p.Ile245Phe)	AMY2A (I245F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260882	NM_000699.4(AMY2A):c.832G>A (p.Gly278Ser)	AMY2A (G278S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365554	NM_000699.4(AMY2A):c.859G>A (p.Glu287Lys)	AMY2A (E287K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 150062	GRCh38/hg38 1p21.1(chr1:103621173-103668450)x3	AMY1A, AMY2A	Copy number gain	See cases	GLikely benign
Select item 767682	NM_000699.4(AMY2A):c.1110T>C (p.Asn370=)	AMY2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570097	NM_000699.4(AMY2A):c.1232T>A (p.Ile411Asn)	AMY2A (I411N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494746	NM_000699.4(AMY2A):c.1238G>T (p.Arg413Leu)	AMY2A (R413L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389195	NM_000699.4(AMY2A):c.1330T>G (p.Phe444Val)	AMY2A (F444V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389196	NM_000699.4(AMY2A):c.1331T>A (p.Phe444Tyr)	AMY2A (F444Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389197	NM_000699.4(AMY2A):c.1332C>A (p.Phe444Leu)	AMY2A (F444L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 1527226	GRCh37/hg19 1p21.1(chr1:103446619-105601238)	AMY1A, AMY1B +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 992749	Single allele	AMY1B, AMY1C +10 more	Deletion	Seizure	GUncertain significance
Select item 988901	GRCh37/hg19 1p21.1(chr1:103446394-105602157)x1	AMY2A, AMY2B +5 more	Copy number loss	not provided	GUncertain significance
Select item 814116	GRCh37/hg19 1p21.1(chr1:104098568-105055971)x1	AMY1B, AMY1C +3 more	Copy number loss	not provided	GLikely benign
Select item 814115	GRCh37/hg19 1p21.1(chr1:104009895-106784499)x3	RNPC3, AMY1A +4 more	Copy number gain	not provided	GUncertain significance
Select item 814112	GRCh37/hg19 1p21.1(chr1:102684528-105691309)x3	COL11A1, AMY1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 565134	GRCh37/hg19 1p21.1(chr1:103555105-104992515)x3	AMY2A, AMY2B +5 more	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442684	GRCh37/hg19 1p21.1(chr1:103480265-105286199)x3	AMY1A, AMY1B +5 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441585	GRCh37/hg19 1p21.1(chr1:103446619-105601238)x1	AMY1A, AMY1B +5 more	Copy number loss	See cases	GUncertain significance
Select item 221780	GRCh37/hg19 1p21.1(chr1:104103057-104357400)x3	AMY1A, AMY1B +3 more	Copy number gain	Premature ovarian failure	GBenign

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Items: 53