RAB6B[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 2569999	NM_016577.4(RAB6B):c.620C>T (p.Ser207Phe)	RAB6B (S194F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619139	NM_016577.4(RAB6B):c.601G>A (p.Ala201Thr)	RAB6B (A188T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210749	NM_016577.4(RAB6B):c.590A>G (p.Gln197Arg)	RAB6B (Q184R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150825	NM_016577.4(RAB6B):c.516G>A (p.Ser172=)	RAB6B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3150824	NM_016577.4(RAB6B):c.467G>A (p.Ser156Asn)	RAB6B (S143N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747183	NM_016577.4(RAB6B):c.324C>T (p.Ile108=)	RAB6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3150826	NM_016577.4(RAB6B):c.8C>T (p.Ala3Val)	RAB6B (A3V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 685898	GRCh37/hg19 3q22.1(chr3:133505914-133586095)x1	RAB6B, SRPRB	Copy number loss	not provided	GUncertain significance
Select item 685833	GRCh37/hg19 3q22.1(chr3:133588698-133662948)x3	C3orf36, RAB6B +1 more	Copy number gain	not provided	GUncertain significance
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
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

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Items: 22