"See cases"[Disease/phenotype] AND "Daryl Scott Lab, Baylor College of - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499625	GRCh38/hg38 1q21.1(chr1:145635432-146019857)	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2499636	GRCh38/hg38 2q23.3(chr2:151451642-151807929)	ARL5A, LOC108348024 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2443327	NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)	BAZ2B (S640fs +2 more)	Duplication (frameshift variant)	BAZ2B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2499647	GRCh38/hg38 2q31.3-32.1(chr2:181915576-182470985)	ITPRID2, LOC126806441 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	BDH1, CEP19 +113 more	Copy number loss	See cases	GPathogenic
Select item 1064533	Single allele	EIF4E3, EOGT +12 more	Deletion	See cases	GPathogenic
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +31 more	GPathogenic
Select item 559844	NM_057175.5(NAA15):c.239_240del (p.His80fs)	NAA15 (H80fs)	Deletion (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 2499664	GRCh38/hg38 5q34(chr5:161615157-162040104)	GABRA1, GABRA6 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2499665	GRCh38/hg38 6q26(chr6:161896065-162548892)	LOC126859869, LOC126859870 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2499668	GRCh38/hg38 9p24.1(chr9:6641895-6676953)	GLDC, LOC111413010 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2499667	GRCh38/hg38 9q33.1(chr9:116667613-116806157)	ASTN2, LOC130002464 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2499626	GRCh38/hg38 10q22.1(chr10:72485363-72566418)	LOC130004065, MICU1	Copy number loss	See cases	GPathogenic
Select item 233777	NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)	PTEN (Y68C +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +12 more	GPathogenic/Likely pathogenic
Select item 39581	NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	PACS1 (R203W)	Single nucleotide variant (missense variant)	Aortic root aneurysm +12 more	GPathogenic/Likely pathogenic
Select item 12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1, ZDHHC24 (M390R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 2499627	GRCh38/hg38 13q31.3(chr13:91423419-91631346)	GPC5	Copy number loss	See cases	GBenign
Select item 2499629	GRCh38/hg38 14q22.3(chr14:56283850-56400818)	LINC02284, PELI2	Copy number loss	See cases	GUncertain significance
Select item 495141	NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	PACS2 (E209K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 190122	NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	MAGEL2 (Q666fs)	Duplication (frameshift variant)	Neurodevelopmental delay +5 more	GPathogenic
Select item 2499633	GRCh38/hg38 15q26.2(chr15:94302663-94352488)	MCTP2	Copy number loss	See cases	GUncertain significance
Select item 2499634	GRCh38/hg38 16p11.2(chr16:29653297-30181026)	ALDOA, ASPHD1 +90 more	Copy number loss	See cases	GPathogenic
Select item 2499637	GRCh38/hg38 20p12.1(chr20:14696399-15275484)	LOC130065435, LOC130065436 +8 more	Copy number loss	See cases	GBenign
Select item 2499628	GRCh38/hg38 20p11.22(chr20:21386174-21530996)	LOC110121332, LOC112268271 +6 more	Copy number loss	See cases	GUncertain significance
Select item 208664	NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)	NAA10 (R83C +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome +5 more	GPathogenic

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Items: 26