NME7[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 149155	GRCh38/hg38 1q24.2(chr1:168498046-169184625)x4	ATP1B1, DPT +19 more	Copy number gain	See cases	GUncertain significance
Select item 35698	NM_001677.4(ATP1B1):c.571C>T (p.Pro191Ser)	ATP1B1, NME7 (P191S)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 3052125	NM_013330.5(NME7):c.1106_1109dup (p.Phe370fs)	NME7 (F334fs +1 more)	Duplication (frameshift variant +1 more)	NME7-related disorder	GLikely benign
Select item 2532562	NM_013330.5(NME7):c.1052A>G (p.Gln351Arg)	NME7 (Q315R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250379	NM_013330.5(NME7):c.1000C>T (p.Arg334Trp)	NME7 (R334W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 3200816	NM_013330.5(NME7):c.983C>T (p.Ala328Val)	NME7 (A328V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525857	NM_013330.5(NME7):c.934A>G (p.Ile312Val)	NME7 (I276V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200815	NM_013330.5(NME7):c.916C>T (p.Pro306Ser)	NME7 (P306S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596923	NM_013330.5(NME7):c.854A>G (p.Tyr285Cys)	NME7 (Y285C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200814	NM_013330.5(NME7):c.772C>G (p.Leu258Val)	NME7 (L258V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206501	NM_013330.5(NME7):c.701C>T (p.Ala234Val)	NME7 (A198V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200812	NM_013330.5(NME7):c.692C>G (p.Ala231Gly)	NME7 (A231G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327235	NM_013330.5(NME7):c.680G>A (p.Gly227Asp)	NME7 (G227D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375454	NM_013330.5(NME7):c.614C>T (p.Ala205Val)	NME7 (A169V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200811	NM_013330.5(NME7):c.599G>T (p.Gly200Val)	NME7 (G200V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595854	NM_013330.5(NME7):c.538A>G (p.Asn180Asp)	NME7 (N144D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311054	NM_013330.5(NME7):c.536C>A (p.Ala179Glu)	NME7 (A179E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300153	NM_013330.5(NME7):c.493A>G (p.Arg165Gly)	NME7 (R165G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381627	NM_013330.5(NME7):c.448A>G (p.Ile150Val)	NME7 (I114V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200810	NM_013330.5(NME7):c.416A>G (p.Asp139Gly)	NME7 (D139G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200809	NM_013330.5(NME7):c.379A>G (p.Met127Val)	NME7 (M91V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234688	NM_013330.5(NME7):c.319G>A (p.Gly107Arg)	NME7 (G71R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300152	NM_013330.5(NME7):c.254G>C (p.Arg85Pro)	NME7 (R49P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328860	NM_013330.5(NME7):c.244T>A (p.Tyr82Asn)	NME7 (Y46N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474121	NM_013330.5(NME7):c.192C>G (p.Asn64Lys)	NME7 (N28K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367847	NM_013330.5(NME7):c.146G>A (p.Arg49Gln)	NME7 (R49Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226479	NM_013330.5(NME7):c.67C>T (p.Arg23Cys)	NME7 (R23C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1808267	GRCh37/hg19 1q24.2(chr1:168675820-169363333)x1	ATP1B1, BLZF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979304	GRCh37/hg19 1q24.2(chr1:169205727-169383182)x1	BLZF1, NME7 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814139	GRCh37/hg19 1q24.2(chr1:169148346-169806006)x1	C1orf112, NME7 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814138	GRCh37/hg19 1q24.2(chr1:169126894-169278743)x1	NME7	Copy number loss	not provided	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 686162	GRCh37/hg19 1q24.2(chr1:168456873-169183290)x4	ATP1B1, DPT +3 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
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 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 52