MCF2L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	MCF2L, MCF2L-AS1 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 57714	GRCh38/hg38 13q34(chr13:111541166-113671678)x1	ADPRHL1, ATP11A +83 more	Copy number loss	See cases	GPathogenic
Select item 59929	GRCh38/hg38 13q34(chr13:112292922-113636272)x3	ADPRHL1, ATP11A +68 more	Copy number gain	See cases	GPathogenic
Select item 741303	NM_001112732.3(MCF2L):c.4A>C (p.Arg2=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2251936	NM_001112732.3(MCF2L):c.46G>C (p.Val16Leu)	MCF2L (V16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643971	NM_001112732.3(MCF2L):c.79+10238C>A	MCF2L (T10N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2643972	NM_001112732.3(MCF2L):c.80-2600G>A	MCF2L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2461752	NM_001112732.3(MCF2L):c.100A>T (p.Ile34Phe)	MCF2L (I34F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124233	NM_001112732.3(MCF2L):c.145C>T (p.Arg49Cys)	MCF2L (R20C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724768	NM_001112732.3(MCF2L):c.162C>T (p.Ser54=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370924	NM_001112732.3(MCF2L):c.170G>A (p.Arg57Gln)	MCF2L (R55Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124241	NM_001112732.3(MCF2L):c.289G>A (p.Ala97Thr)	MCF2L (A59T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124245	NM_001112732.3(MCF2L):c.359T>A (p.Leu120Gln)	MCF2L (L124Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293627	NM_001112732.3(MCF2L):c.367G>A (p.Ala123Thr)	MCF2L (A123T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710216	NM_001112732.3(MCF2L):c.369+7G>C	MCF2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3124246	NM_001112732.3(MCF2L):c.397G>A (p.Val133Ile)	MCF2L (V104I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371309	NM_001112732.3(MCF2L):c.403G>A (p.Val135Met)	MCF2L (V133M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207599	NM_001112732.3(MCF2L):c.416C>T (p.Thr139Met)	MCF2L (T143M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358537	NM_001112732.3(MCF2L):c.419G>A (p.Gly140Asp)	MCF2L (G138D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124247	NM_001112732.3(MCF2L):c.448G>A (p.Ala150Thr)	MCF2L (A150T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295972	NM_001112732.3(MCF2L):c.471C>A (p.Asp157Glu)	MCF2L (D155E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594318	NM_001112732.3(MCF2L):c.586C>T (p.Arg196Trp)	MCF2L (R158W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732995	NM_001112732.3(MCF2L):c.587G>A (p.Arg196Gln)	MCF2L (R158Q +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2513029	NM_001112732.3(MCF2L):c.605C>T (p.Thr202Met)	MCF2L (T164M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124248	NM_001112732.3(MCF2L):c.612C>G (p.Ile204Met)	MCF2L (I166M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643973	NM_001112732.3(MCF2L):c.669C>T (p.Thr223=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3124249	NM_001112732.3(MCF2L):c.700G>T (p.Val234Phe)	MCF2L (V196F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519180	NM_001112732.3(MCF2L):c.707C>G (p.Ser236Trp)	MCF2L (S234W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486332	NM_001112732.3(MCF2L):c.716C>T (p.Ser239Leu)	MCF2L (S201L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643974	NM_001112732.3(MCF2L):c.753G>A (p.Ala251=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776815	NM_001112732.3(MCF2L):c.756+12dup	MCF2L	Duplication (intron variant)	not provided	GBenign
Select item 3124251	NM_001112732.3(MCF2L):c.761A>G (p.Asp254Gly)	MCF2L (D252G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791502	NM_001112732.3(MCF2L):c.874G>A (p.Val292Met)	MCF2L (V290M +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3293630	NM_001112732.3(MCF2L):c.979G>A (p.Glu327Lys)	MCF2L (E331K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244464	NM_001112732.3(MCF2L):c.981G>T (p.Glu327Asp)	MCF2L (E298D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377651	NM_001112732.3(MCF2L):c.991C>T (p.Arg331Trp)	MCF2L (R335W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781124	NM_001112732.3(MCF2L):c.1050C>T (p.Ile350=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3293631	NM_001112732.3(MCF2L):c.1067A>G (p.His356Arg)	MCF2L (H360R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791329	NM_001112732.3(MCF2L):c.1116+10G>A	MCF2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2205797	NM_001112732.3(MCF2L):c.1118T>G (p.Val373Gly)	MCF2L (V344G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315211	NM_001112732.3(MCF2L):c.1121C>T (p.Ala374Val)	MCF2L (A345V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760549	NM_001112732.3(MCF2L):c.1122C>G (p.Ala374=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588755	NM_001112732.3(MCF2L):c.1123G>A (p.Val375Met)	MCF2L (V337M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124228	NM_001112732.3(MCF2L):c.1136G>A (p.Arg379Gln)	MCF2L (R341Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725923	NM_001112732.3(MCF2L):c.1152C>T (p.Asp384=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2331344	NM_001112732.3(MCF2L):c.1166T>A (p.Ile389Asn)	MCF2L (I393N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715587	NM_001112732.3(MCF2L):c.1172A>G (p.Asn391Ser)	MCF2L (N389S +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770237	NM_001112732.3(MCF2L):c.1219C>T (p.Arg407Trp)	MCF2L (R369W +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2672551	NM_001112732.3(MCF2L):c.1244C>T (p.Ala415Val)	MCF2L (A377V +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2297738	NM_001112732.3(MCF2L):c.1252G>A (p.Ala418Thr)	MCF2L (A389T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773719	NM_001112732.3(MCF2L):c.1269G>T (p.Leu423=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3124229	NM_001112732.3(MCF2L):c.1294C>A (p.Arg432Ser)	MCF2L (R403S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212151	NM_001112732.3(MCF2L):c.1295G>A (p.Arg432His)	MCF2L (R394H +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3124230	NM_001112732.3(MCF2L):c.1307C>T (p.Thr436Met)	MCF2L (T434M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711384	NM_001112732.3(MCF2L):c.1308+8G>A	MCF2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3124231	NM_001112732.3(MCF2L):c.1362C>A (p.Asp454Glu)	MCF2L (D416E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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