30910[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929093, LOC129929110 +282 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152695	GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	ACAP3, AGRN +254 more	Copy number loss	See cases	GPathogenic
Select item 152675	GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	LOC129929104, LOC129929105 +249 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 151110	GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	ACAP3, AGRN +243 more	Copy number loss	See cases	GPathogenic
Select item 150995	GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	ACAP3, ACTRT2 +275 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 148829	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	ACAP3, AGRN +238 more	Copy number gain	See cases	GUncertain significance
Select item 148825	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	ACAP3, AGRN +238 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58292	GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	ACAP3, AGRN +205 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57201	GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	LOC129929161, LOC129929162 +252 more	Copy number loss	See cases	GPathogenic
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	LOC129929114, LOC129929115 +244 more	Copy number loss	See cases	GPathogenic
Select item 57052	GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	ACAP3, ACTRT2 +270 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149739	GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	ACAP3, ACTRT2 +260 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ACAP3, ACTRT2 +274 more	Copy number loss	See cases	GPathogenic
Select item 144576	GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	ACAP3, AGRN +234 more	Copy number loss	See cases	GPathogenic
Select item 58293	GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	ACAP3, AGRN +237 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58316	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	ACAP3, AGRN +246 more	Copy number loss	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 58313	GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	LOC126805582, LOC129388419 +253 more	Copy number loss	See cases	GPathogenic
Select item 58312	GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	ACAP3, AGRN +198 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	ACAP3, AGRN +247 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 155157	GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	ACAP3, AGRN +146 more	Copy number loss	See cases	GPathogenic
Select item 154003	GRCh38/hg38 1p36.33(chr1:914086-1538895)x1	ACAP3, AGRN +136 more	Copy number loss	See cases	GLikely pathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 152333	GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	ACAP3, ACTRT2 +264 more	Copy number loss	See cases	GPathogenic
Select item 152331	GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	LOC129929169, LOC129929170 +231 more	Copy number loss	See cases	GPathogenic
Select item 145604	GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	ACAP3, AGRN +168 more	Copy number gain	See cases	GLikely benign
Select item 144721	GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1	ACAP3, AGRN +137 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149947	GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	ACAP3, ANKRD65 +209 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 3332396	NM_022834.5(VWA1):c.8C>T (p.Pro3Leu)	VWA1 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031419	NM_022834.5(VWA1):c.52_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	VWA1-related disorder	GLikely pathogenic
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 830324	NM_022834.5(VWA1):c.62_71del (p.Gly21fs)	VWA1 (G21fs)	Microsatellite (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +1 more	GPathogenic/Likely pathogenic
Select item 2278711	NM_022834.5(VWA1):c.55C>T (p.Arg19Trp)	VWA1 (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264926	NM_022834.5(VWA1):c.73+132_73+143dup	VWA1	Duplication (intron variant)	not provided	GBenign
Select item 3189225	NM_022834.5(VWA1):c.86C>T (p.Ser29Leu)	VWA1 (S29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189226	NM_022834.5(VWA1):c.89C>T (p.Ala30Val)	VWA1 (A30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 830326	NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)	VWA1 (R32*)	Single nucleotide variant (nonsense +1 more)	VWA1-related disorder	GLikely pathogenic
Select item 2154860	NM_022834.5(VWA1):c.96del (p.Asp34fs)	VWA1 (D34fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2487490	NM_022834.5(VWA1):c.133G>A (p.Val45Ile)	VWA1 (V45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3237466	NM_022834.5(VWA1):c.161G>C (p.Arg54Pro)	VWA1 (R54P)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7	GLikely pathogenic
Select item 830329	NM_022834.5(VWA1):c.186_209del (p.Pro63_Ala70del)	VWA1	Deletion (inframe_deletion +1 more)	Neuromuscular disease	GLikely pathogenic
Select item 3189217	NM_022834.5(VWA1):c.199G>A (p.Gly67Ser)	VWA1 (G67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270417	NM_022834.5(VWA1):c.200G>A (p.Gly67Asp)	VWA1 (G67D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2683688	NM_022834.5(VWA1):c.205G>A (p.Gly69Arg)	VWA1 (G69R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 722916	NM_022834.5(VWA1):c.208G>T (p.Ala70Ser)	VWA1 (A70S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3332394	NM_022834.5(VWA1):c.209C>A (p.Ala70Asp)	VWA1 (A70D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1695698	NM_022834.5(VWA1):c.212T>C (p.Leu71Pro)	VWA1 (L71P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067304	NM_022834.5(VWA1):c.215G>A (p.Arg72His)	VWA1 (R72H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 830325	NM_022834.5(VWA1):c.252del (p.Glu85fs)	VWA1 (E85fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2330900	NM_022834.5(VWA1):c.265G>T (p.Gly89Cys)	VWA1 (G89C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234242	NM_022834.5(VWA1):c.276C>T (p.Ser92=)	VWA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3250773	NM_022834.5(VWA1):c.283G>A (p.Glu95Lys)	VWA1 (E95K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2291595	NM_022834.5(VWA1):c.287C>T (p.Ala96Val)	VWA1 (A96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515393	NM_022834.5(VWA1):c.305G>A (p.Arg102His)	VWA1 (R102H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406803	NM_022834.5(VWA1):c.305G>C (p.Arg102Pro)	VWA1 (R102P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024898	NM_022834.5(VWA1):c.321C>T (p.Arg107=)	VWA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2300741	NM_022834.5(VWA1):c.350T>G (p.Leu117Arg)	VWA1 (L117R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189218	NM_022834.5(VWA1):c.395G>A (p.Arg132Gln)	VWA1 (R132Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256973	NM_022834.5(VWA1):c.445G>A (p.Asp149Asn)	VWA1 (D149N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3065995	NM_022834.5(VWA1):c.462del (p.Met155fs)	VWA1 (M155fs)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7	GPathogenic

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