RAB38[gene] - ClinVar

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Items: 31

	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 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 2297743	NM_022337.3(RAB38):c.610A>G (p.Ser204Gly)	RAB38 (S204G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367963	NM_022337.3(RAB38):c.577G>A (p.Val193Met)	RAB38 (V193M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150707	NM_022337.3(RAB38):c.574G>A (p.Val192Ile)	RAB38 (V192I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150706	NM_022337.3(RAB38):c.557A>G (p.Glu186Gly)	RAB38 (E186G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542021	NM_022337.3(RAB38):c.506C>G (p.Ala169Gly)	RAB38 (A169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462074	NM_022337.3(RAB38):c.494A>G (p.Asn165Ser)	RAB38 (N165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150705	NM_022337.3(RAB38):c.491T>C (p.Ile164Thr)	RAB38 (I164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609610	NM_022337.3(RAB38):c.476C>T (p.Ser159Leu)	RAB38 (S159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458855	NM_022337.3(RAB38):c.450C>G (p.His150Gln)	RAB38 (H150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515869	NM_022337.3(RAB38):c.413A>C (p.Asn138Thr)	RAB38 (N138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541222	NM_022337.3(RAB38):c.241C>G (p.Arg81Gly)	RAB38 (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150704	NM_022337.3(RAB38):c.134A>G (p.Asp45Gly)	RAB38 (D45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312143	NM_022337.3(RAB38):c.14A>G (p.His5Arg)	RAB38 (H5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685415	GRCh37/hg19 11q14.2(chr11:87790784-87875091)x1	RAB38	Copy number loss	not provided	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 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
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 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
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 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
Select item 226280	GRCh37/hg19 11q14.2-14.3(chr11:87099219-91921385)	CTSC, FOLH1B +14 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 31