MLF1[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 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
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 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 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 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 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 149924	GRCh38/hg38 3q25.32(chr3:158522751-158602792)x3	MLF1, MLF1-DT +2 more	Copy number gain	See cases	GLikely benign
Select item 2265494	NM_001369783.1(MLF1):c.73A>G (p.Asn25Asp)	MLF1 (N25D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2219691	NM_001369783.1(MLF1):c.80G>A (p.Arg27Gln)	MLF1 (R27Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295033	NM_001369783.1(MLF1):c.85A>G (p.Met29Val)	MLF1 (M4V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200027	NM_001369783.1(MLF1):c.178G>T (p.Gly60Cys)	MLF1 (G35C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373430	NM_001369783.1(MLF1):c.200C>T (p.Thr67Met)	MLF1 (T42M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3058750	NM_001369783.1(MLF1):c.201G>T (p.Thr67=)	MLF1	Single nucleotide variant (synonymous variant +1 more)	MLF1-related disorder	GLikely benign
Select item 2344019	NM_001369783.1(MLF1):c.233G>C (p.Gly78Ala)	MLF1 (G78A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783407	NM_001369783.1(MLF1):c.279G>A (p.Met93Ile)	MLF1 (M33I +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2232904	NM_001369783.1(MLF1):c.331C>T (p.Leu111Phe)	MLF1 (L51F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222046	NM_001369783.1(MLF1):c.404C>T (p.Pro135Leu)	MLF1 (P120L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295032	NM_001369783.1(MLF1):c.428C>A (p.Thr143Asn)	MLF1 (T103N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200171	NM_001369783.1(MLF1):c.437G>T (p.Arg146Leu)	MLF1 (R103L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775921	NM_001369783.1(MLF1):c.472G>A (p.Ala158Thr)	MLF1 (A133T +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778840	NM_001369783.1(MLF1):c.600C>T (p.Ile200=)	MLF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3058810	NM_001369783.1(MLF1):c.614-3T>C	MLF1	Single nucleotide variant (intron variant)	MLF1-related disorder	GLikely benign
Select item 3059532	NM_001369783.1(MLF1):c.615T>C (p.Ser205=)	MLF1	Single nucleotide variant (synonymous variant +1 more)	MLF1-related disorder	GBenign
Select item 2410067	NM_001369783.1(MLF1):c.640T>C (p.Trp214Arg)	MLF1 (W131R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539752	NM_001369783.1(MLF1):c.712C>T (p.His238Tyr)	MLF1 (H155Y +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060448	NM_001369783.1(MLF1):c.721C>A (p.Pro241Thr)	MLF1 (P152T +7 more)	Single nucleotide variant (missense variant +1 more)	MLF1-related disorder	GBenign
Select item 722054	NM_001369783.1(MLF1):c.730C>T (p.Arg244Ter)	MLF1 (R155* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2590925	NM_001369783.1(MLF1):c.793A>C (p.Asn265His)	MLF1 (N205H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783408	NM_001369783.1(MLF1):c.795T>A (p.Asn265Lys)	MLF1 (N176K +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527051	GRCh37/hg19 3q25.32(chr3:158060351-158665225)	GFM1, LXN +4 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 1527049	GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553)	C3orf80, CCNL1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1325533	Single allele	GFM1, LXN +2 more	Duplication	not provided	GUncertain significance
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 929324	GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3	C3orf80, CCNL1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 688198	GRCh37/hg19 3q25.32(chr3:158149940-158802473)x3	GFM1, IQCJ +6 more	Copy number gain	not provided	GUncertain significance
Select item 687064	GRCh37/hg19 3q25.32(chr3:157620773-158351532)x1	MLF1, RSRC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 686474	GRCh37/hg19 3q25.32(chr3:157542717-158388665)x3	GFM1, LXN +3 more	Copy number gain	not provided	GUncertain significance
Select item 562831	GRCh37/hg19 3q25.32-25.33(chr3:157991657-159073531)x3	MFSD1, MLF1 +7 more	Copy number gain	not provided	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 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 49