TMEM51[gene] - ClinVar

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Items: 52

	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 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 149960	GRCh38/hg38 1p36.21(chr1:13400935-15356944)x1	FHAD1, FHAD1-AS1 +55 more	Copy number loss	See cases	GLikely pathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57723	GRCh38/hg38 1p36.21(chr1:14750604-15281017)x3	FHAD1, KAZN +21 more	Copy number gain	See cases	GUncertain significance
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 3179516	NM_001136218.2(TMEM51):c.22A>G (p.Asn8Asp)	TMEM51 (N8D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771685	NM_001136218.2(TMEM51):c.57G>A (p.Leu19=)	TMEM51	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2608233	NM_001136218.2(TMEM51):c.96C>A (p.Asn32Lys)	TMEM51 (N32K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308323	NM_001136218.2(TMEM51):c.146A>G (p.Asn49Ser)	TMEM51 (N49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291620	NM_001136218.2(TMEM51):c.258G>C (p.Arg86Ser)	TMEM51 (R86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716269	NM_001136218.2(TMEM51):c.327C>T (p.His109=)	TMEM51	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2275599	NM_001136218.2(TMEM51):c.384G>T (p.Arg128Ser)	TMEM51 (R128S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179517	NM_001136218.2(TMEM51):c.397A>G (p.Ser133Gly)	TMEM51 (S133G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179518	NM_001136218.2(TMEM51):c.446A>T (p.Glu149Val)	TMEM51 (E149V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285919	NM_001136218.2(TMEM51):c.476C>T (p.Pro159Leu)	TMEM51 (P159L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226662	NM_001136218.2(TMEM51):c.494C>T (p.Thr165Met)	TMEM51 (T165M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179519	NM_001136218.2(TMEM51):c.502G>A (p.Asp168Asn)	TMEM51 (D168N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217663	NM_001136218.2(TMEM51):c.505G>A (p.Glu169Lys)	TMEM51 (E169K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257270	NM_001136218.2(TMEM51):c.517A>G (p.Thr173Ala)	TMEM51 (T173A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179520	NM_001136218.2(TMEM51):c.520T>G (p.Ser174Ala)	TMEM51 (S174A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327123	NM_001136218.2(TMEM51):c.682C>A (p.Pro228Thr)	TMEM51 (P228T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309858	NM_001136218.2(TMEM51):c.713A>G (p.Gln238Arg)	TMEM51 (Q238R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209194	NM_001136218.2(TMEM51):c.742G>A (p.Asp248Asn)	TMEM51 (D248N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 731484	NM_001136218.2(TMEM51):c.756C>T (p.Pro252=)	TMEM51	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2282083	NM_001136218.2(TMEM51):c.757G>A (p.Asp253Asn)	TMEM51 (D253N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062911	GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	AGMAT, CASP9 +13 more	Copy number loss	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 814060	GRCh37/hg19 1p36.21(chr1:15352819-15745220)x3	TMEM51, FHAD1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687576	GRCh37/hg19 1p36.21(chr1:14697488-15486442)x3	KAZN, TMEM51	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	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 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 253681	GRCh37/hg19 1p36.21(chr1:15334318-15771284)x3	FHAD1, KAZN +3 more	Copy number gain	See cases	GUncertain significance
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 52