UEVLD[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 2261043	NM_001040697.4(UEVLD):c.1334C>T (p.Thr445Ile)	UEVLD (T315I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328393	NM_001040697.4(UEVLD):c.1322T>C (p.Val441Ala)	UEVLD (V419A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245429	NM_001040697.4(UEVLD):c.1289C>T (p.Pro430Leu)	UEVLD (P430L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531648	NM_001040697.4(UEVLD):c.1160C>T (p.Ser387Phe)	UEVLD (S257F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598420	NM_001040697.4(UEVLD):c.1150G>T (p.Gly384Cys)	UEVLD (G362C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595037	NM_001040697.4(UEVLD):c.1143A>C (p.Arg381Ser)	UEVLD (R251S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384977	NM_001040697.4(UEVLD):c.938G>A (p.Arg313Gln)	UEVLD (R275Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493118	NM_001040697.4(UEVLD):c.901T>C (p.Tyr301His)	UEVLD (Y171H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602682	NM_001040697.4(UEVLD):c.884C>T (p.Pro295Leu)	UEVLD (P165L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262657	NM_001040697.4(UEVLD):c.812A>G (p.Asp271Gly)	UEVLD (D233G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550312	NM_001040697.4(UEVLD):c.763T>G (p.Ser255Ala)	UEVLD (S255A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400255	NM_001040697.4(UEVLD):c.614G>A (p.Gly205Asp)	UEVLD (G167D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208678	NM_001040697.4(UEVLD):c.590G>C (p.Cys197Ser)	UEVLD (C97S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333611	NM_001040697.4(UEVLD):c.557C>A (p.Thr186Asn)	UEVLD (T186N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309432	NM_001040697.4(UEVLD):c.452G>C (p.Arg151Pro)	UEVLD (R129P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352634	NM_001040697.4(UEVLD):c.421A>C (p.Met141Leu)	UEVLD (M11L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2601392	NM_001040697.4(UEVLD):c.356A>G (p.His119Arg)	UEVLD (H119R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346262	NM_001040697.4(UEVLD):c.338A>G (p.Tyr113Cys)	UEVLD (Y113C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209637	NM_001040697.4(UEVLD):c.335C>G (p.Pro112Arg)	UEVLD (P74R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340943	NM_001040697.4(UEVLD):c.326T>C (p.Ile109Thr)	UEVLD (I71T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527431	NM_001040697.4(UEVLD):c.274A>G (p.Thr92Ala)	UEVLD (T54A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346574	NM_001040697.4(UEVLD):c.247G>A (p.Ala83Thr)	UEVLD (A45T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323066	NM_001040697.4(UEVLD):c.212C>A (p.Pro71Gln)	UEVLD (P49Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248553	NM_001040697.4(UEVLD):c.136G>A (p.Asp46Asn)	UEVLD (D46N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2373907	NM_001040697.4(UEVLD):c.131T>C (p.Phe44Ser)	UEVLD (F6S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2424682	NC_000011.9:g.(?_18418390)_(19204313_?)del	CSRP3, IGSF22 +11 more	Deletion	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 1809490	GRCh37/hg19 11p15.1(chr11:18585628-18692833)x1	SPTY2D1, UEVLD	Copy number loss	not provided	GUncertain significance
Select item 1808754	GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3	GTF2H1, HPS5 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1807934	GRCh37/hg19 11p15.1(chr11:18582223-18697956)x1	SPTY2D1, UEVLD	Copy number loss	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 1527629	GRCh37/hg19 11p15.1(chr11:18482438-18792764)	IGSF22, LDHAL6A +5 more	Copy number loss	not specified	GUncertain significance
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	TSG101, UEVLD +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	MYOD1, NAV2 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	GALNT18, SAA1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 563866	GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1	GTF2H1, HPS5 +18 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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Items: 46