ClinVar for Gene (Select 65997) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3151909	NM_023940.3(RASL11B):c.91C>A (p.Arg31Ser)	LOC114004386, RASL11B (R31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151908	NM_023940.3(RASL11B):c.655A>G (p.Ile219Val)	RASL11B (I219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151907	NM_023940.3(RASL11B):c.578C>T (p.Ala193Val)	RASL11B (A193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685967	GRCh37/hg19 4q11-12(chr4:52685980-54252935)x3	DANCR, DCUN1D4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2609407	NM_023940.3(RASL11B):c.473A>C (p.His158Pro)	RASL11B (H158P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593508	NM_023940.3(RASL11B):c.17A>T (p.Asn6Ile)	LOC114004386, RASL11B (N6I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2550761	NM_023940.3(RASL11B):c.458A>G (p.Lys153Arg)	RASL11B (K153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478932	NM_023940.3(RASL11B):c.601G>A (p.Val201Ile)	RASL11B (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462366	NM_023940.3(RASL11B):c.80G>A (p.Gly27Asp)	LOC114004386, RASL11B (G27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363937	NM_023940.3(RASL11B):c.430C>T (p.Arg144Trp)	RASL11B (R144W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326064	NM_023940.3(RASL11B):c.550A>C (p.Ser184Arg)	RASL11B (S184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269429	NM_023940.3(RASL11B):c.356C>T (p.Ser119Phe)	RASL11B (S119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261552	NM_023940.3(RASL11B):c.94C>T (p.Arg32Cys)	LOC114004386, RASL11B (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238251	NM_023940.3(RASL11B):c.326G>A (p.Arg109His)	RASL11B (R109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809499	GRCh37/hg19 4q12(chr4:53434611-54079547)x3	DANCR, ERVMER34-1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1809000	GRCh37/hg19 4q12(chr4:53098544-53949065)x1	DANCR, ERVMER34-1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1808350	GRCh37/hg19 4q12(chr4:53715514-53925549)x1	RASL11B, SCFD2	Copy number loss	not provided	GUncertain significance
Select item 1703552	GRCh37/hg19 4q12(chr4:53688710-56491447)	CHIC2, CLOCK +12 more	Copy number loss	Piebaldism	GPathogenic
Select item 1527087	GRCh37/hg19 4q12(chr4:53435144-54091178)	DANCR, ERVMER34-1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527086	GRCh37/hg19 4q12(chr4:53091609-53953124)	DANCR, ERVMER34-1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 814552	GRCh37/hg19 4q12(chr4:53688710-54741991)x3	SCFD2, FIP1L1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687293	GRCh37/hg19 4q11-12(chr4:52685685-54040923)x3	DANCR, DCUN1D4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57309	GRCh38/hg38 4q12(chr4:51870025-55102392)x1	CHIC2, DANCR +65 more	Copy number loss	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39