LOC126860784[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 3151312	NM_006266.4(RALGDS):c.2422G>C (p.Val808Leu)	LOC126860784, RALGDS (V807L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775280	NM_006266.4(RALGDS):c.2385G>A (p.Gln795=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659688	NM_006266.4(RALGDS):c.2340A>G (p.Ser780=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151311	NM_006266.4(RALGDS):c.2311G>A (p.Ala771Thr)	LOC126860784, RALGDS (A770T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151310	NM_006266.4(RALGDS):c.2245A>T (p.Thr749Ser)	LOC126860784, RALGDS (T737S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711898	NM_006266.4(RALGDS):c.2238C>T (p.Ser746=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3312636	NM_006266.4(RALGDS):c.2183C>T (p.Pro728Leu)	LOC126860784, RALGDS (P716L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311215	NM_006266.4(RALGDS):c.2179G>A (p.Val727Ile)	LOC126860784, RALGDS (V715I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223985	NM_006266.4(RALGDS):c.2155G>A (p.Val719Met)	LOC126860784, RALGDS (V690M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709863	NM_006266.4(RALGDS):c.2154C>T (p.Asp718=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717971	NM_006266.4(RALGDS):c.2136C>T (p.Ala712=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2523708	NM_006266.4(RALGDS):c.2132C>T (p.Ser711Leu)	LOC126860784, RALGDS (S656L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454792	NM_006266.4(RALGDS):c.2110G>A (p.Ala704Thr)	LOC126860784, RALGDS (A649T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151309	NM_006266.4(RALGDS):c.2101G>A (p.Gly701Arg)	LOC126860784, RALGDS (G689R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742367	NM_006266.4(RALGDS):c.2064C>T (p.Ser688=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600367	NM_006266.4(RALGDS):c.2012G>A (p.Arg671His)	LOC126860784, RALGDS (R670H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 40