MBNL1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 153419	GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1	AADAC, AADACL2 +61 more	Copy number loss	See cases	GLikely pathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 218788	NM_021038.4(MBNL1):c.-1409C>T	MBNL1, MBNL1-AS1	Single nucleotide variant (intron variant +1 more)	not specified	GBenign
Select item 3055807	NM_021038.5(MBNL1):c.120G>A (p.Ser40=)	MBNL1	Single nucleotide variant (synonymous variant +3 more)	MBNL1-related disorder	GBenign
Select item 3124081	NM_021038.5(MBNL1):c.374C>T (p.Ala125Val)	MBNL1 (A125V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259819	NM_021038.5(MBNL1):c.389C>T (p.Ala130Val)	MBNL1 (A14V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211595	NM_021038.5(MBNL1):c.394G>A (p.Ala132Thr)	MBNL1 (A40T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394468	NM_021038.5(MBNL1):c.482C>T (p.Pro161Leu)	MBNL1 (P161L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240162	NM_021038.5(MBNL1):c.691C>T (p.Arg231Trp)	MBNL1 (R22W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240104	NM_021038.5(MBNL1):c.794C>A (p.Thr265Asn)	MBNL1 (T56N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351822	NM_021038.5(MBNL1):c.866A>G (p.Asn289Ser)	MBNL1 (N147S +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3040311	NM_021038.5(MBNL1):c.876C>T (p.Thr292=)	MBNL1	Single nucleotide variant (synonymous variant +2 more)	MBNL1-related disorder	GLikely benign
Select item 3058656	NM_021038.5(MBNL1):c.1020G>A (p.Thr340=)	MBNL1 (R277H)	Single nucleotide variant (synonymous variant +3 more)	MBNL1-related disorder	GLikely benign
Select item 3124080	NM_021038.5(MBNL1):c.1035C>T (p.Ser345=)	MBNL1 (P282L)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2612046	NM_021038.5(MBNL1):c.1069G>A (p.Ala357Thr)	MBNL1 (A230T +26 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2672966	NM_021038.5(MBNL1):c.1093-1147C>T	MBNL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3042593	NM_021038.5(MBNL1):c.*1A>T	MBNL1	Single nucleotide variant (3 prime UTR variant +1 more)	MBNL1-related disorder	GLikely benign
Select item 2671595	Single allele	AADAC, AADACL2 +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 1527045	GRCh37/hg19 3q25.1-25.2(chr3:151147204-154845718)	AADAC, AADACL2 +11 more	Copy number loss	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 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980069	GRCh37/hg19 3q25.1-25.2(chr3:151702938-152648714)x1	MBNL1, P2RY1	Copy number loss	not provided	GUncertain significance
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 814487	GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	GPR171, IGSF10 +23 more	Copy number loss	not provided	GPathogenic
Select item 442527	GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1	AADAC, AADACL2 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 35