478[HGNC] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 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 145537	GRCh38/hg38 1p21.1(chr1:103108301-103564967)x3	AMY2B, COL11A1 +5 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 154942	GRCh38/hg38 1p21.1(chr1:103462283-103612668)x3	AMY2B, LOC129931061 +3 more	Copy number gain	See cases	GLikely benign
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 3117363	NM_001387437.1(AMY2B):c.7T>C (p.Phe3Leu)	AMY2B (F3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117288	NM_001387437.1(AMY2B):c.14T>G (p.Leu5Arg)	AMY2B (L5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117319	NM_001387437.1(AMY2B):c.28A>G (p.Ile10Val)	AMY2B (I10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285848	NM_001387437.1(AMY2B):c.28A>T (p.Ile10Phe)	AMY2B (I10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363802	NM_001387437.1(AMY2B):c.74G>A (p.Arg25Gln)	AMY2B (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208495	NM_001387437.1(AMY2B):c.86T>C (p.Val29Ala)	AMY2B (V29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389082	NM_001387437.1(AMY2B):c.91C>A (p.Leu31Met)	AMY2B (L31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771690	NM_001387437.1(AMY2B):c.91C>T (p.Leu31=)	AMY2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2485718	NM_001387437.1(AMY2B):c.134G>C (p.Arg45Pro)	AMY2B (R45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591520	NM_001387437.1(AMY2B):c.145C>T (p.Pro49Ser)	AMY2B (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381070	NM_001387437.1(AMY2B):c.145C>A (p.Pro49Thr)	AMY2B (P49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225932	NM_001387437.1(AMY2B):c.152G>A (p.Gly51Glu)	AMY2B (G51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117299	NM_001387437.1(AMY2B):c.193G>A (p.Ala65Thr)	AMY2B (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117304	NM_001387437.1(AMY2B):c.196A>G (p.Ile66Val)	AMY2B (I66V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284685	NM_001387437.1(AMY2B):c.266G>C (p.Gly89Ala)	AMY2B (G89A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589016	NM_001387437.1(AMY2B):c.275A>G (p.Asp92Gly)	AMY2B (D92G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117329	NM_001387437.1(AMY2B):c.353C>G (p.Ser118Cys)	AMY2B (S118C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311374	NM_001387437.1(AMY2B):c.479G>C (p.Ser160Thr)	AMY2B (S160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293599	NM_001387437.1(AMY2B):c.526C>T (p.Arg176Cys)	AMY2B (R176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520076	NM_001387437.1(AMY2B):c.559A>C (p.Lys187Gln)	AMY2B (K187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301919	NM_001387437.1(AMY2B):c.587A>T (p.Glu196Val)	AMY2B (E196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229170	NM_001387437.1(AMY2B):c.611T>A (p.Ile204Asn)	AMY2B (I204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117342	NM_001387437.1(AMY2B):c.614G>C (p.Gly205Ala)	AMY2B (G205A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309448	NM_001387437.1(AMY2B):c.646C>A (p.His216Asn)	AMY2B (H216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117349	NM_001387437.1(AMY2B):c.649A>T (p.Met217Leu)	AMY2B (M217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346990	NM_001387437.1(AMY2B):c.728C>A (p.Pro243His)	AMY2B (P243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117361	NM_001387437.1(AMY2B):c.760G>C (p.Gly254Arg)	AMY2B (G254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638959	NM_001387437.1(AMY2B):c.783C>T (p.Asp261=)	AMY2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117366	NM_001387437.1(AMY2B):c.800G>A (p.Arg267Gln)	AMY2B (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360218	NM_001387437.1(AMY2B):c.844C>T (p.Arg282Cys)	AMY2B (R282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363067	NM_001387437.1(AMY2B):c.845G>A (p.Arg282His)	AMY2B (R282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293579	NM_001387437.1(AMY2B):c.854A>G (p.Asn285Ser)	AMY2B (N285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285686	NM_001387437.1(AMY2B):c.856G>A (p.Gly286Arg)	AMY2B (G286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460504	NM_001387437.1(AMY2B):c.875T>G (p.Leu292Arg)	AMY2B (L292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293617	NM_001387437.1(AMY2B):c.961G>T (p.Gly321Trp)	AMY2B (G321W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117375	NM_001387437.1(AMY2B):c.995A>T (p.Asp332Val)	AMY2B (D332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117225	NM_001387437.1(AMY2B):c.1016C>T (p.Ala339Val)	AMY2B (A339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117229	NM_001387437.1(AMY2B):c.1073G>A (p.Arg358His)	AMY2B (R358H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117231	NM_001387437.1(AMY2B):c.1076G>T (p.Trp359Leu)	AMY2B (W359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117233	NM_001387437.1(AMY2B):c.1077G>T (p.Trp359Cys)	AMY2B (W359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117238	NM_001387437.1(AMY2B):c.1082G>C (p.Arg361Thr)	AMY2B (R361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117242	NM_001387437.1(AMY2B):c.1117G>A (p.Val373Ile)	AMY2B (V373I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598056	NM_001387437.1(AMY2B):c.1132A>T (p.Asn378Tyr)	AMY2B (N378Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552072	NM_001387437.1(AMY2B):c.1171A>G (p.Thr391Ala)	AMY2B (T391A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293590	NM_001387437.1(AMY2B):c.1184A>G (p.Asn395Ser)	AMY2B (N395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218437	NM_001387437.1(AMY2B):c.1205G>A (p.Arg402Gln)	AMY2B (R402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362116	NM_001387437.1(AMY2B):c.1237C>T (p.Arg413Cys)	AMY2B (R413C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389276	NM_001387437.1(AMY2B):c.1238G>A (p.Arg413His)	AMY2B (R413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311283	NM_001387437.1(AMY2B):c.1297G>A (p.Ala433Thr)	AMY2B (A433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293610	NM_001387437.1(AMY2B):c.1326T>G (p.Ile442Met)	AMY2B (I442M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117267	NM_001387437.1(AMY2B):c.1354T>A (p.Ser452Thr)	AMY2B (S452T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117269	NM_001387437.1(AMY2B):c.1363T>G (p.Leu455Val)	AMY2B (L455V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117272	NM_001387437.1(AMY2B):c.1385G>C (p.Gly462Ala)	AMY2B (G462A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364209	NM_001387437.1(AMY2B):c.1424G>A (p.Gly475Asp)	AMY2B (G475D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209924	NM_001387437.1(AMY2B):c.1450G>A (p.Val484Ile)	AMY2B (V484I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485156	NM_001387437.1(AMY2B):c.1471C>T (p.His491Tyr)	AMY2B (H491Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401949	NM_001387437.1(AMY2B):c.1480A>C (p.Ile494Leu)	AMY2B (I494L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069120	NC_000001.10:g.(104086070_104087562)_(104097862_?)dup	AMY2B, RNPC3	Duplication	not specified	GBenign
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 1340799	GRCh37/hg19 1p21.1(chr1:103772743-104132185)x3	AMY2B, RNPC3	Copy number gain	not provided	GLikely benign
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 814114	GRCh37/hg19 1p21.1(chr1:103767538-104132185)x3	RNPC3, AMY2B	Copy number gain	not provided	GLikely benign
Select item 814113	GRCh37/hg19 1p21.1(chr1:103532704-104132185)x3	COL11A1, AMY2B +1 more	Copy number gain	not provided	GPathogenic
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)	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

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Items: 91