NMU[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 152711	GRCh38/hg38 4q12(chr4:55572451-55801163)x1	LOC116158489, LOC116158490 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2290867	NM_006681.4(NMU):c.490C>A (p.Pro164Thr)	NMU (P139T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200860	NM_006681.4(NMU):c.470G>A (p.Arg157Gln)	NMU (R157Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200859	NM_006681.4(NMU):c.433G>A (p.Asp145Asn)	NMU (D129N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200857	NM_006681.4(NMU):c.374A>T (p.His125Leu)	NMU (H109L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344233	NM_006681.4(NMU):c.362C>T (p.Ser121Leu)	NMU (S105L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537458	NM_006681.4(NMU):c.172A>C (p.Ile58Leu)	NMU (I58L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476199	NM_006681.4(NMU):c.127C>A (p.Pro43Thr)	NMU (P43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200856	NM_006681.4(NMU):c.110G>A (p.Arg37Gln)	NMU (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200861	NM_006681.4(NMU):c.61C>G (p.Pro21Ala)	NMU (P21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200858	NM_006681.4(NMU):c.38C>T (p.Ala13Val)	NMU (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378904	NM_006681.4(NMU):c.8G>T (p.Arg3Leu)	NMU (R3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246588	NC_000004.11:g.(?_55124936)_(57786056_?)del	AASDH, ARL9 +18 more	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685969	GRCh37/hg19 4q12(chr4:56169506-56780835)x3	CLOCK, EXOC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2426476	NC_000004.11:g.(?_55124936)_(57368027_?)del	AASDH, CEP135 +13 more	Deletion	not provided	GPathogenic
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1703552	GRCh37/hg19 4q12(chr4:53688710-56491447)	CHIC2, CLOCK +12 more	Copy number loss	Piebaldism	GPathogenic
Select item 1433363	NC_000004.11:g.(?_55124936)_(57798318_?)dup	AASDH, ARL9 +18 more	Duplication	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 814554	GRCh37/hg19 4q12(chr4:56425198-56687180)x1	NMU, PDCL2	Copy number loss	not provided	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 35