RAB21[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 2210631	NM_014999.4(RAB21):c.34G>A (p.Ala12Thr)	LOC130008296, RAB21 (A12T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747920	NM_014999.4(RAB21):c.99G>C (p.Thr33=)	RAB21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538708	NM_014999.4(RAB21):c.359T>C (p.Met120Thr)	RAB21 (M120T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612909	NM_014999.4(RAB21):c.400A>T (p.Ile134Leu)	RAB21 (I134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378636	NM_014999.4(RAB21):c.473A>T (p.His158Leu)	RAB21 (H158L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205179	NM_014999.4(RAB21):c.476A>G (p.Tyr159Cys)	RAB21 (Y159C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786231	NM_014999.4(RAB21):c.636T>C (p.Pro212=)	RAB21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688046	GRCh37/hg19 12q15-21.1(chr12:71081550-73526446)x1	LGR5, PTPRR +8 more	Copy number loss	not provided	GUncertain significance
Select item 685861	GRCh37/hg19 12q21.1(chr12:72179499-72283266)x3	RAB21, TBC1D15	Copy number gain	not provided	GUncertain significance
Select item 443535	GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1	CNOT2, KCNMB4 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 20