ClinVar for Gene (Select 29895) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2616180	NM_013292.5(MYL11):c.302C>A (p.Thr101Asn)	MYL11 (T101N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550124	NM_013292.5(MYL11):c.434C>T (p.Pro145Leu)	LOC112441444, MYL11 (P145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471023	NM_013292.5(MYL11):c.254C>G (p.Thr85Ser)	MYL11 (T85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433958	NM_013292.5(MYL11):c.283_300dup (p.Ile100_Thr101insAspProGluAspValIle)	MYL11	Duplication (inframe_insertion)	Arthrogryposis, distal, type 1C	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1330157	GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1	ALDOA, BOLA2B +29 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 916688	NM_013292.5(MYL11):c.98C>T (p.Ala33Val)	MYL11 (A33V)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 916687	NM_013292.5(MYL11):c.487G>A (p.Gly163Ser)	LOC112441444, MYL11 (G163S)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 916686	NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)	LOC112441444, MYL11 (C157R)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 916685	NM_013292.5(MYL11):c.470G>T (p.Cys157Phe)	LOC112441444, MYL11 (C157F)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ATP2A1, ALDOA +102 more	Copy number loss	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	DOC2A, FBRS +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221516	GRCh37/hg19 16p11.2(chr16:30386180-30390806)x5	MYL11, SEPTIN1 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155318	GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3	ALDOA, ASPHD1 +77 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 91978	NM_013292.5(MYL11):c.431C>A (p.Pro144His)	LOC112441444, MYL11 (P144H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 59991	GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3	CD2BP2-DT, DCTPP1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30