ClinVar for Gene (Select 256586) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292403	NM_153374.3(LYSMD2):c.94G>A (p.Gly32Ser)	LYSMD2 (G32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121728	NM_153374.3(LYSMD2):c.419A>C (p.Asp140Ala)	LYSMD2 (D140A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121727	NM_153374.3(LYSMD2):c.223G>A (p.Val75Ile)	LOC130057059, LYSMD2 (V75I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121726	NM_153374.3(LYSMD2):c.194G>T (p.Gly65Val)	LOC130057059, LYSMD2 (G65V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121725	NM_153374.3(LYSMD2):c.193G>A (p.Gly65Ser)	LOC130057059, LYSMD2 (G65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121723	NM_153374.3(LYSMD2):c.154T>C (p.Tyr52His)	LOC130057059, LYSMD2 (Y52H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684759	GRCh37/hg19 15q21.2(chr15:51542162-52273119)x3	CYP19A1, DMXL2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2619663	NM_153374.3(LYSMD2):c.472C>T (p.Pro158Ser)	LYSMD2 (P158S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455553	NM_153374.3(LYSMD2):c.442G>A (p.Glu148Lys)	LYSMD2 (E148K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 2339683	NM_153374.3(LYSMD2):c.503C>T (p.Pro168Leu)	LYSMD2 (P77L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327454	NM_153374.3(LYSMD2):c.182C>T (p.Pro61Leu)	LOC130057059, LYSMD2 (P61L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315543	NM_153374.3(LYSMD2):c.80C>T (p.Pro27Leu)	LOC130057060, LYSMD2 (P27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1342357	NC_000015.10:g.51681311_51791472dup	LOC121530581, LOC130057054 +13 more	Duplication	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 980039	GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)x1	LEO1, TMOD3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 688472	GRCh37/hg19 15q21.2(chr15:51735136-52620104)x1	BCL2L10, DMXL2 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 17825	NC_000015.10:g.(51338597_?)_(51829837_51862810)inv	DMXL2, GLDN +27 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic

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Links from Gene

Items: 38