ClinVar for Gene (Select 4543) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296737	NM_005958.4(MTNR1A):c.506A>T (p.Gln169Leu)	MTNR1A (Q169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246717	NC_000004.11:g.(?_186064502)_(187630981_?)dup	ANKRD37, CCDC110 +15 more	Duplication	not provided	GUncertain significance
Select item 3216925	NM_005958.4(MTNR1A):c.976G>A (p.Asp326Asn)	MTNR1A (D326N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216923	NM_005958.4(MTNR1A):c.930A>G (p.Ile310Met)	MTNR1A (I310M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216919	NM_005958.4(MTNR1A):c.839G>C (p.Ser280Thr)	MTNR1A (S280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216909	NM_005958.4(MTNR1A):c.698A>T (p.Asp233Val)	MTNR1A (D233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216902	NM_005958.4(MTNR1A):c.474C>T (p.Ala158=)	MTNR1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3216896	NM_005958.4(MTNR1A):c.442G>A (p.Val148Met)	MTNR1A (V148M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062762	GRCh37/hg19 4q35.2(chr4:187424629-187554043)x1	FAT1, MTNR1A	Copy number loss	not specified	GUncertain significance
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	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 2685138	GRCh37/hg19 4q35.1-35.2(chr4:187040986-190957473)x1	CYP4V2, F11 +9 more	Copy number loss	not provided	GUncertain significance
Select item 2685136	GRCh37/hg19 4q35.1-35.2(chr4:186805036-188558860)x1	CYP4V2, F11 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2593996	NM_005958.4(MTNR1A):c.13G>C (p.Gly5Arg)	MTNR1A (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514471	NM_005958.4(MTNR1A):c.271A>T (p.Asn91Tyr)	MTNR1A (N91Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512982	NM_005958.4(MTNR1A):c.337G>A (p.Gly113Ser)	MTNR1A (G113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372611	NM_005958.4(MTNR1A):c.155T>C (p.Val52Ala)	MTNR1A (V52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357305	NM_005958.4(MTNR1A):c.1033G>A (p.Val345Ile)	MTNR1A (V345I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293602	NM_005958.4(MTNR1A):c.602T>A (p.Ile201Asn)	MTNR1A (I201N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254358	NM_005958.4(MTNR1A):c.6G>C (p.Gln2His)	MTNR1A (Q2H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231365	NM_005958.4(MTNR1A):c.274G>A (p.Gly92Arg)	MTNR1A (G92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807820	GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 1807774	GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1	ANKRD37, CCDC110 +16 more	Copy number loss	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1710924	GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1	ACSL1, ANKRD37 +26 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1704311	GRCh37/hg19 4q35.1-35.2(chr4:186473718-187912600)x3	CYP4V2, F11 +6 more	Copy number gain	Craniofacial microsomia 1	GUncertain significance
Select item 1703259	Single allele	CYP4V2, DBET +67 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1527146	GRCh37/hg19 4q35.1-35.2(chr4:186686044-190842022)	CYP4V2, F11 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1527144	GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)	KLKB1, LRP2BP +15 more	Copy number gain	not specified	GUncertain significance
Select item 1527143	GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)	CFAP96, ANKRD37 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527141	GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	ACSL1, ANKRD37 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1433110	NC_000004.11:g.(?_186423448)_(187630981_?)dup	CYP4V2, F11 +7 more	Duplication	not provided	GUncertain significance
Select item 1374349	NC_000004.11:g.(?_186064527)_(187630981_?)del	ANKRD37, CCDC110 +15 more	Deletion	not provided	GPathogenic
Select item 1340439	GRCh37/hg19 4q35.2(chr4:187210620-187942708)x3	F11, FAT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1263722	NC_000004.12:g.186533547T>C	MTNR1A	Single nucleotide variant	not provided	GBenign
Select item 1252210	NM_005958.4(MTNR1A):c.945A>G (p.Thr315=)	MTNR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1250542	NM_005958.4(MTNR1A):c.924A>G (p.Arg308=)	MTNR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1181324	NM_005958.4(MTNR1A):c.185-154del	MTNR1A	Deletion (intron variant)	not provided	GBenign
Select item 1070873	NC_000004.11:g.(?_186997774)_(187630981_?)del	CYP4V2, F11 +5 more	Deletion	not provided	GPathogenic
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	CFAP96, CFAP97 +36 more	Copy number loss	Atypical behavior +1 more	GLikely pathogenic
Select item 979497	GRCh37/hg19 4q35.2(chr4:187299348-187530184)x3	FAT1, MTNR1A	Copy number gain	not provided	GUncertain significance
Select item 979496	GRCh37/hg19 4q35.2(chr4:187391214-190957473)x1	ZFP42, FAT1 +5 more	Copy number loss	not provided	GPathogenic
Select item 831567	NC_000004.12:g.(?_186149141)_(186709827_?)del	CYP4V2, F11 +4 more	Deletion	not provided	GPathogenic
Select item 814648	GRCh37/hg19 4q35.2(chr4:187406290-187684110)x3	FAT1, MTNR1A	Copy number gain	not provided	GLikely benign
Select item 814647	GRCh37/hg19 4q35.2(chr4:187249893-188428905)x1	FAT1, MTNR1A	Copy number loss	not provided	GUncertain significance
Select item 814641	GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3	ANKRD37, CCDC110 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814637	GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3	ACSL1, ANKRD37 +32 more	Copy number gain	not provided	GPathogenic
Select item 814636	GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	MTNR1A, PDLIM3 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 791529	NM_005958.4(MTNR1A):c.635T>C (p.Ile212Thr)	MTNR1A (I212T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 762676	NM_005958.4(MTNR1A):c.588C>T (p.Phe196=)	MTNR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716546	NM_005958.4(MTNR1A):c.470C>T (p.Ala157Val)	MTNR1A (A157V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689174	GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 688648	GRCh37/hg19 4q35.2(chr4:187161749-187522422)x3	F11, FAT1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AADAT, ACSL1 +65 more	Copy number gain	not provided	GPathogenic
Select item 685560	GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	ACSL1, AGA +40 more	Copy number loss	not provided	GPathogenic
Select item 685477	GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1	FAT1, FRG1 +28 more	Copy number loss	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 644265	NC_000004.12:g.(?_185684754)_(186709827_?)del	CYP4V2, F11 +26 more	Deletion	not provided	GPathogenic
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	CLDN22, FAM149A +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	RWDD4, SAP30 +54 more	Copy number loss	not provided	GPathogenic
Select item 563014	GRCh37/hg19 4q35.2(chr4:187210329-187942708)x3	MTNR1A, FAT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563013	GRCh37/hg19 4q35.2(chr4:187179134-187866865)x3	KLKB1, MTNR1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 563012	GRCh37/hg19 4q35.2(chr4:187106869-188449414)x3	CYP4V2, KLKB1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563010	GRCh37/hg19 4q35.1-35.2(chr4:186496069-189142432)x3	MTNR1A, KLKB1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563008	GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3	ACSL1, ANKRD37 +27 more	Copy number gain	not provided	GPathogenic
Select item 563006	GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	not provided	GPathogenic
Select item 563004	GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	ACSL1, AGA +45 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 560078	Single allele	CYP4V2, F11 +3 more	Duplication	not provided	GUncertain significance
Select item 560041	Single allele	ANKRD37, ACSL1 +43 more	Deletion	not provided	GPathogenic
Select item 547113	GRCh37/hg19 4q35.2(chr4:187333416-187518766)x3	FAT1, MTNR1A	Copy number gain	not provided	GUncertain significance
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443369	GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	ACSL1, AGA +45 more	Copy number gain	See cases	GPathogenic
Select item 443064	GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1	ACSL1, ANKRD37 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 442869	GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 442364	GRCh37/hg19 4q35.1-35.2(chr4:186349585-190957473)x1	CCDC110, CFAP96 +14 more	Copy number loss	See cases	GLikely pathogenic
Select item 441917	GRCh37/hg19 4q35.1-35.2(chr4:185958310-189223175)x3	ANKRD37, CCDC110 +18 more	Copy number gain	See cases	GUncertain significance
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 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 395430	GRCh37/hg19 4q35.1-35.2(chr4:186252440-190713591)x1	ANKRD37, CCDC110 +16 more	Copy number loss	See cases	GPathogenic
Select item 394745	GRCh37/hg19 4q35.2(chr4:187367725-187476383)x3	MTNR1A	Copy number gain	See cases	Gconflicting data from submitters

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