RAB43[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 57147	GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	ACAD9, ACAD9-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 3150803	NM_198490.3(RAB43):c.610A>G (p.Ile204Val)	ISY1-RAB43, RAB43 (I204V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3150802	NM_198490.3(RAB43):c.541A>G (p.Ile181Val)	ISY1-RAB43, RAB43 (I181V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2356299	NM_198490.3(RAB43):c.533C>T (p.Thr178Met)	ISY1-RAB43, RAB43 (T178M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552534	NM_198490.3(RAB43):c.446T>C (p.Leu149Pro)	ISY1-RAB43, RAB43 (L149P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3029853	NM_198490.3(RAB43):c.389-1224C>G	ISY1-RAB43, RAB43 (Q138E)	Single nucleotide variant (missense variant +1 more)	RAB43-related disorder	GUncertain significance
Select item 3054713	NM_198490.3(RAB43):c.389-1250T>G	ISY1-RAB43, RAB43	Single nucleotide variant (intron variant)	RAB43-related disorder	GLikely benign
Select item 3032105	NM_198490.3(RAB43):c.387C>T (p.Ile129=)	ISY1-RAB43, RAB43	Single nucleotide variant (3 prime UTR variant +1 more)	RAB43-related disorder	GLikely benign
Select item 3057612	NM_198490.3(RAB43):c.360G>A (p.Ala120=)	ISY1-RAB43, RAB43	Single nucleotide variant (3 prime UTR variant +1 more)	RAB43-related disorder	GLikely benign
Select item 3050338	NM_198490.3(RAB43):c.357T>C (p.Tyr119=)	ISY1-RAB43, RAB43	Single nucleotide variant (3 prime UTR variant +1 more)	RAB43-related disorder	GLikely benign
Select item 3150801	NM_198490.3(RAB43):c.197G>T (p.Arg66Leu)	ISY1-RAB43, RAB43 (R66L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044970	NM_198490.3(RAB43):c.51C>T (p.Phe17=)	ISY1-RAB43, RAB43	Single nucleotide variant (synonymous variant +1 more)	RAB43-related disorder	GLikely benign
Select item 3056372	NM_198490.3(RAB43):c.12G>A (p.Pro4=)	ISY1-RAB43, RAB43	Single nucleotide variant (synonymous variant +1 more)	RAB43-related disorder	GBenign
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
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 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
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 394918	GRCh37/hg19 3q21.3(chr3:128780456-128806811)x3	GP9, ISY1-RAB43 +1 more	Copy number gain	See cases	GLikely benign
Select item 394112	GRCh37/hg19 3q21.3(chr3:128779669-128806811)x3	GP9, ISY1-RAB43 +1 more	Copy number gain	See cases	GLikely benign

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Items: 27