ClinVar for Gene (Select 56181) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296611	NM_001099625.2(MTFR1L):c.809T>C (p.Val270Ala)	AUNIP, MTFR1L (V270A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296609	NM_001099625.2(MTFR1L):c.658G>A (p.Ala220Thr)	MTFR1L (A220T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214736	NM_001099625.2(MTFR1L):c.672G>A (p.Ser224=)	MTFR1L (R188H)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3214724	NM_001099625.2(MTFR1L):c.585G>A (p.Val195=)	MTFR1L (W159*)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3214719	NM_001099625.2(MTFR1L):c.481T>C (p.Ser161Pro)	MTFR1L (S161P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214716	NM_001099625.2(MTFR1L):c.338G>A (p.Arg113Lys)	MTFR1L (R113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
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 2569609	NM_001099625.2(MTFR1L):c.570C>T (p.Thr190=)	MTFR1L (P154L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2550341	NM_001099625.2(MTFR1L):c.571G>A (p.Glu191Lys)	MTFR1L (E191K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527891	NM_001099625.2(MTFR1L):c.379C>T (p.Arg127Cys)	MTFR1L (R127C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514243	NM_001099625.2(MTFR1L):c.323G>A (p.Arg108His)	MTFR1L (R108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488711	NM_001099625.2(MTFR1L):c.671C>G (p.Ser224Trp)	MTFR1L (S224W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485666	NM_001099625.2(MTFR1L):c.209C>A (p.Ala70Glu)	MTFR1L (A70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2380297	NM_001099625.2(MTFR1L):c.691G>A (p.Val231Ile)	MTFR1L (V231I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377169	NM_001099625.2(MTFR1L):c.632C>T (p.Pro211Leu)	MTFR1L (P211L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370903	NM_001099625.2(MTFR1L):c.248C>T (p.Thr83Met)	MTFR1L (T83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361102	NM_001099625.2(MTFR1L):c.52C>T (p.His18Tyr)	MTFR1L (H18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349112	NM_001099625.2(MTFR1L):c.50C>T (p.Pro17Leu)	MTFR1L (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217687	NM_001099625.2(MTFR1L):c.499G>A (p.Val167Ile)	MTFR1L (V167I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206676	NM_001099625.2(MTFR1L):c.538T>C (p.Ser180Pro)	MTFR1L (S180P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 929348	GRCh37/hg19 1p36.11(chr1:25872197-26274156)x3	AUNIP, LDLRAP1 +5 more	Copy number gain	See cases	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 152940	GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3	AUNIP, LDLRAP1 +44 more	Copy number gain	See cases	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 29