ClinVar for Gene (Select 276) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293528	NM_004038.4(AMY1A):c.998C>T (p.Ala333Val)	AMY1A (A333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117143	NM_004038.4(AMY1A):c.950A>G (p.Gln317Arg)	AMY1A (Q317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117139	NM_004038.4(AMY1A):c.1073G>A (p.Arg358His)	AMY1A (R358H)	Single nucleotide variant (missense variant)	not specified	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 2528143	NM_004038.4(AMY1A):c.1018G>A (p.Val340Ile)	AMY1A (V340I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359522	NM_004038.4(AMY1A):c.964G>A (p.Ala322Thr)	AMY1A (A322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258062	NM_004038.4(AMY1A):c.1036C>T (p.His346Tyr)	AMY1A (H346Y)	Single nucleotide variant (missense variant)	not specified	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 733787	NM_004038.4(AMY1A):c.920C>T (p.Ala307Val)	AMY1A (A307V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711054	NM_004038.4(AMY1A):c.963C>T (p.Gly321=)	AMY1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 565134	GRCh37/hg19 1p21.1(chr1:103555105-104992515)x3	AMY2A, AMY2B +5 more	Copy number gain	not provided	GUncertain significance
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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
Select item 156748	Single allele	AMY2A, AMY1A	Deletion	Large for gestational age +1 more	Gnot provided
Select item 156745	Single allele	AMY1A, AMY2A	Deletion	Large for gestational age +2 more	Gnot provided
Select item 154910	GRCh38/hg38 1p21.1(chr1:103618352-103668450)x1	AMY1A, AMY2A	Copy number loss	See cases	GLikely benign
Select item 154777	GRCh38/hg38 1p21.1(chr1:103642842-103668450)x3	AMY1A	Copy number gain	See cases	GLikely benign
Select item 154638	GRCh38/hg38 1p21.1(chr1:103582313-103754679)x3	AMY1A, AMY1B +2 more	Copy number gain	See cases	GBenign
Select item 152864	GRCh38/hg38 1p21.1(chr1:102983807-105059200)x1	AMY1A, AMY1B +12 more	Copy number loss	See cases	GUncertain significance
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 150062	GRCh38/hg38 1p21.1(chr1:103621173-103668450)x3	AMY1A, AMY2A	Copy number gain	See cases	GLikely benign
Select item 149513	GRCh38/hg38 1p21.1(chr1:103642842-103668450)x1	AMY1A	Copy number loss	See cases	GLikely benign
Select item 147581	GRCh38/hg38 1p21.1(chr1:103549695-104099415)x1	AMY1A, AMY1B +4 more	Copy number loss	See cases	GBenign
Select item 147190	GRCh38/hg38 1p21.1(chr1:103618379-103668405)x3	AMY1A, AMY2A	Copy number gain	See cases	GBenign
Select item 146629	GRCh38/hg38 1p21.1(chr1:103280931-103754679)x1	AMY1A, AMY1B +8 more	Copy number loss	See cases	GBenign
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 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 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 42