ME1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	LOC129996748, LOC129996749 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 2492316	NM_002395.6(ME1):c.1684G>A (p.Glu562Lys)	ME1 (E562K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407420	NM_002395.6(ME1):c.1675T>C (p.Trp559Arg)	ME1 (W559R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124747	NM_002395.6(ME1):c.1649A>T (p.Asp550Val)	ME1 (D550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272427	NM_002395.6(ME1):c.1465G>T (p.Val489Leu)	ME1 (V489L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783470	NM_002395.6(ME1):c.1437C>T (p.Leu479=)	ME1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3124745	NM_002395.6(ME1):c.1376C>G (p.Pro459Arg)	ME1 (P459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124744	NM_002395.6(ME1):c.1358A>G (p.Asn453Ser)	ME1 (N453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594586	NM_002395.6(ME1):c.1352A>C (p.Gln451Pro)	ME1 (Q451P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412040	NM_002395.6(ME1):c.1319C>T (p.Thr440Ile)	ME1 (T440I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327799	NM_002395.6(ME1):c.1271C>T (p.Thr424Ile)	ME1 (T424I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472412	NM_002395.6(ME1):c.1198C>T (p.Arg400Trp)	ME1 (R400W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206016	NM_002395.6(ME1):c.1067A>G (p.His356Arg)	ME1 (H356R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124743	NM_002395.6(ME1):c.1043C>T (p.Thr348Ile)	ME1 (T348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463128	NM_002395.6(ME1):c.1030C>T (p.Arg344Cys)	ME1 (R344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124752	NM_002395.6(ME1):c.996G>C (p.Trp332Cys)	ME1 (W332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369394	NM_002395.6(ME1):c.967C>T (p.Pro323Ser)	ME1 (P323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124751	NM_002395.6(ME1):c.887C>T (p.Thr296Ile)	ME1 (T296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124750	NM_002395.6(ME1):c.635G>A (p.Arg212Gln)	ME1 (R212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370327	NM_002395.6(ME1):c.464G>T (p.Arg155Leu)	ME1 (R155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218618	NM_002395.6(ME1):c.353G>A (p.Arg118Gln)	ME1 (R118Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376221	NM_002395.6(ME1):c.342T>G (p.Ser114Arg)	ME1 (S114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394663	NM_002395.6(ME1):c.294G>A (p.Met98Ile)	ME1 (M98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212609	NM_002395.6(ME1):c.285G>C (p.Glu95Asp)	ME1 (E95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124748	NM_002395.6(ME1):c.277G>A (p.Asp93Asn)	ME1 (D93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124749	NM_002395.6(ME1):c.43G>C (p.Gly15Arg)	LOC129996766, ME1 (G15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062931	GRCh37/hg19 6q14.2(chr6:83982285-84276653)x3	ME1, PRSS35 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2685208	GRCh37/hg19 6q14.2(chr6:84011516-84062681)x1	ME1	Copy number loss	not provided	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 1808836	GRCh37/hg19 6q14.2(chr6:83970948-84088871)x1	ME1	Copy number loss	not provided	GUncertain significance
Select item 1808487	GRCh37/hg19 6q14.1-14.2(chr6:81087736-84200632)x3	DOP1A, IBTK +6 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527260	GRCh37/hg19 6q14.2(chr6:84029282-84124184)	ME1	Copy number loss	not specified	GUncertain significance
Select item 1527258	GRCh37/hg19 6q14.1-14.2(chr6:83888683-83941662)	ME1, PGM3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527257	GRCh37/hg19 6q14.1-14.2(chr6:83788069-84228464)	DOP1A, ME1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 1003195	NC_000006.11:g.(?_83878953)_(84567108_?)dup	ME1, PGM3 +4 more	Duplication	not provided	GUncertain significance
Select item 814839	GRCh37/hg19 6q14.1-14.2(chr6:82620262-84201117)x1	UBE3D, DOP1A +5 more	Copy number loss	not provided	GUncertain significance
Select item 685209	GRCh37/hg19 6q14.1-14.2(chr6:82987696-84007694)x1	DOP1A, ME1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	DDX43, TMEM30A +40 more	Copy number loss	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 425527	GRCh37/hg19 6q14.2(chr6:84064628-84117542)x1	ME1	Copy number loss	not provided	GLikely benign
Select item 394457	GRCh37/hg19 6q14.2(chr6:84056520-84136451)x1	ME1	Copy number loss	See cases	GLikely benign
Select item 253817	GRCh37/hg19 6q14.1-14.2(chr6:83753213-84004063)x3	ME1, DOP1A +3 more	Copy number gain	See cases	GUncertain significance
Select item 224831	Single allele	SNAP91, PGM3 +6 more	Deletion	Immunodeficiency 23	GPathogenic

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Items: 52