ClinVar for Gene (Select 55669) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294518	NM_033540.3(MFN1):c.2006T>A (p.Val669Glu)	MFN1 (V669E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294517	NM_033540.3(MFN1):c.200T>C (p.Ile67Thr)	MFN1 (I67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294516	NM_033540.3(MFN1):c.1075A>G (p.Asn359Asp)	MFN1 (N359D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125714	NM_033540.3(MFN1):c.232G>A (p.Val78Met)	MFN1 (V78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125713	NM_033540.3(MFN1):c.1915G>A (p.Glu639Lys)	MFN1 (E639K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125712	NM_033540.3(MFN1):c.1849G>C (p.Val617Leu)	MFN1 (V617L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125711	NM_033540.3(MFN1):c.1712C>T (p.Thr571Met)	MFN1 (T571M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125710	NM_033540.3(MFN1):c.1529A>G (p.His510Arg)	MFN1 (H510R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125709	NM_033540.3(MFN1):c.1345A>C (p.Ile449Leu)	MFN1 (I449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2623320	NM_033540.3(MFN1):c.1246G>A (p.Glu416Lys)	MFN1 (E416K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615377	NM_033540.3(MFN1):c.758G>A (p.Arg253His)	MFN1 (R253H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613089	NM_033540.3(MFN1):c.836G>A (p.Arg279His)	MFN1 (R279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609058	NM_033540.3(MFN1):c.30C>G (p.His10Gln)	MFN1 (H10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517276	NM_033540.3(MFN1):c.1375G>A (p.Asp459Asn)	MFN1 (D459N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511614	NM_033540.3(MFN1):c.1237A>G (p.Met413Val)	MFN1 (M413V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466878	NM_033540.3(MFN1):c.1607T>G (p.Leu536Trp)	MFN1 (L536W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401442	NM_033540.3(MFN1):c.2179G>A (p.Glu727Lys)	MFN1 (E727K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368045	NM_033540.3(MFN1):c.934G>T (p.Ala312Ser)	MFN1 (A312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361970	NM_033540.3(MFN1):c.979T>C (p.Cys327Arg)	MFN1 (C327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361290	NM_033540.3(MFN1):c.1399G>A (p.Ala467Thr)	MFN1 (A467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330290	NM_033540.3(MFN1):c.1062A>G (p.Ile354Met)	MFN1 (I354M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327929	NM_033540.3(MFN1):c.1478A>T (p.His493Leu)	MFN1 (H493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326211	NM_033540.3(MFN1):c.1591C>G (p.Leu531Val)	MFN1 (L531V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264779	NM_033540.3(MFN1):c.1498A>G (p.Lys500Glu)	MFN1 (K500E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261944	NM_033540.3(MFN1):c.601G>A (p.Val201Ile)	MFN1 (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245023	NM_033540.3(MFN1):c.1283G>A (p.Cys428Tyr)	MFN1 (C428Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236998	NM_033540.3(MFN1):c.1066G>T (p.Asp356Tyr)	MFN1 (D356Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235543	NM_033540.3(MFN1):c.1787C>T (p.Ser596Phe)	MFN1 (S596F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215304	NM_033540.3(MFN1):c.475C>T (p.Arg159Cys)	MFN1 (R159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527058	GRCh37/hg19 3q26.32-26.33(chr3:178944833-179245494)	GNB4, KCNMB3 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1411483	NC_000003.11:g.(?_178947772)_(179144440_?)dup	GNB4, KCNMB3 +3 more	Duplication	Cowden syndrome	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980553	GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1	MRPL47, DNAJC19 +12 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 684528	NM_033540.3(MFN1):c.677G>A (p.Arg226Gln)	MFN1 (R226Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 638139	GRCh37/hg19 3q26.32-26.33(chr3:178869440-179400345)x3	ZNF639, ACTL6A +7 more	Copy number gain	See cases	GUncertain significance
Select item 562845	GRCh37/hg19 3q26.32-26.33(chr3:178990782-179443371)x3	ZNF639, ACTL6A +5 more	Copy number gain	not provided	GUncertain significance
Select item 562844	GRCh37/hg19 3q26.32-26.33(chr3:178940421-179278597)x3	GNB4, ZNF639 +3 more	Copy number gain	not provided	GLikely benign
Select item 443796	GRCh37/hg19 3q26.32-26.33(chr3:178853769-179369934)x3	ACTL6A, GNB4 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395452	GRCh37/hg19 3q26.32-26.33(chr3:178917597-179094773)x3	KCNMB3, MFN1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155645	GRCh38/hg38 3q26.32-26.33(chr3:178391683-179786092)x3	ACTL6A, GNB4 +51 more	Copy number gain	See cases	GLikely benign
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 63