LSMEM1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 545340	Single allele	DOCK4, DOCK4-AS1 +29 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 58927	GRCh38/hg38 7q31.1(chr7:112216116-112945352)x1	BMT2, IFRD1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 2389617	NM_182597.3(LSMEM1):c.109G>A (p.Gly37Arg)	LSMEM1 (G37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512087	NM_182597.3(LSMEM1):c.222C>A (p.Ser74Arg)	LSMEM1 (S74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336941	NM_182597.3(LSMEM1):c.260A>G (p.Gln87Arg)	LSMEM1 (Q87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121329	NM_182597.3(LSMEM1):c.317T>C (p.Ile106Thr)	LSMEM1 (I106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390823	NM_182597.3(LSMEM1):c.356G>A (p.Arg119Gln)	LSMEM1 (R119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292168	NM_182597.3(LSMEM1):c.380A>G (p.Asp127Gly)	LSMEM1 (D127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292169	NM_182597.3(LSMEM1):c.386A>T (p.Glu129Val)	LSMEM1 (E129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062952	GRCh37/hg19 7q31.1(chr7:111340222-113515460)x3	BMT2, DOCK4 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1340162	GRCh37/hg19 7q31.1(chr7:111609961-113375421)x3	BMT2, DOCK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815018	GRCh37/hg19 7q31.1(chr7:109594999-113885203)x3	LSMEM1, BMT2 +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 689016	GRCh37/hg19 7q31.1(chr7:109939104-113649529)x1	BMT2, DOCK4 +8 more	Copy number loss	not provided	GUncertain significance
Select item 688575	GRCh37/hg19 7q31.1(chr7:112092779-112333402)x3	IFRD1, LSMEM1	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686552	GRCh37/hg19 7q31.1(chr7:112129234-112603987)x3	BMT2, LSMEM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686475	GRCh37/hg19 7q31.1(chr7:107786826-112356275)x1	DNAJB9, DOCK4 +9 more	Copy number loss	not provided	GUncertain significance
Select item 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 more	Copy number loss	not provided	GPathogenic
Select item 635931	Single allele	BMT2, DOCK4 +7 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 443343	GRCh37/hg19 7q31.1(chr7:110322161-112423237)x3	DOCK4, IFRD1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442990	GRCh37/hg19 7q31.1(chr7:112041734-112326169)x1	IFRD1, LSMEM1	Copy number loss	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442638	GRCh37/hg19 7q31.1(chr7:111903631-112132722)x1	IFRD1, LSMEM1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 441861	GRCh37/hg19 7q31.1-31.2(chr7:111642645-115770275)x1	BMT2, DOCK4 +9 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 39