RAB30[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 2250777	NM_001286060.2(RAB30):c.592A>T (p.Thr198Ser)	RAB30 (T198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610506	NM_001286060.2(RAB30):c.580A>G (p.Ile194Val)	RAB30 (I194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331076	NM_001286060.2(RAB30):c.556C>G (p.Pro186Ala)	RAB30 (P186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529207	NM_001286060.2(RAB30):c.437T>C (p.Met146Thr)	RAB30 (M146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611963	NM_001286060.2(RAB30):c.391G>C (p.Glu131Gln)	RAB30 (E131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392762	NM_001286060.2(RAB30):c.53C>G (p.Ala18Gly)	RAB30 (A18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155228	GRCh38/hg38 11q14.1(chr11:83066124-84475390)x3	ANKRD42, ANKRD42-DT +28 more	Copy number gain	See cases	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980960	GRCh37/hg19 11q14.1(chr11:82618269-83454773)x3	ANKRD42, CCDC90B +4 more	Copy number gain	not provided	GUncertain significance
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 443209	GRCh37/hg19 11q14.1(chr11:82653859-83566849)x3	ANKRD42, CCDC90B +3 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 22