MAN1C1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 627647	NC_000001.11:g.25320307_25719620dup	LDLRAP1, LOC122056798 +29 more	Duplication	9q34 microduplication syndrome	GLikely benign
Select item 152940	GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3	AUNIP, LDLRAP1 +44 more	Copy number gain	See cases	GUncertain significance
Select item 2534268	NM_020379.4(MAN1C1):c.40C>T (p.Pro14Ser)	MAN1C1 (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122474	NM_020379.4(MAN1C1):c.68T>C (p.Phe23Ser)	MAN1C1 (F23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223365	NM_020379.4(MAN1C1):c.79C>T (p.Leu27Phe)	MAN1C1 (L27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782680	NM_020379.4(MAN1C1):c.166C>G (p.Pro56Ala)	MAN1C1 (P56A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2316354	NM_020379.4(MAN1C1):c.169C>T (p.Arg57Trp)	MAN1C1 (R57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122466	NM_020379.4(MAN1C1):c.254C>T (p.Ala85Val)	MAN1C1 (A85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122468	NM_020379.4(MAN1C1):c.307C>T (p.Arg103Cys)	MAN1C1 (R103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609931	NM_020379.4(MAN1C1):c.329G>C (p.Arg110Pro)	MAN1C1 (R110P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271358	NM_020379.4(MAN1C1):c.355G>A (p.Glu119Lys)	MAN1C1 (E119K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122469	NM_020379.4(MAN1C1):c.358G>A (p.Glu120Lys)	MAN1C1 (E120K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122470	NM_020379.4(MAN1C1):c.422T>C (p.Phe141Ser)	MAN1C1 (F141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122471	NM_020379.4(MAN1C1):c.475A>G (p.Thr159Ala)	MAN1C1 (T159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122472	NM_020379.4(MAN1C1):c.517G>A (p.Ala173Thr)	MAN1C1 (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513040	NM_020379.4(MAN1C1):c.571C>T (p.Arg191Cys)	MAN1C1 (R191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122473	NM_020379.4(MAN1C1):c.598C>T (p.Arg200Cys)	MAN1C1 (R200C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783280	NM_020379.4(MAN1C1):c.756C>T (p.Ser252=)	MAN1C1	Single nucleotide variant (synonymous variant +1 more)	MAN1C1-related disorder +1 more	GBenign
Select item 2638501	NM_020379.4(MAN1C1):c.777G>A (p.Glu259=)	MAN1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3122475	NM_020379.4(MAN1C1):c.838T>C (p.Phe280Leu)	MAN1C1 (F314L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394417	NM_020379.4(MAN1C1):c.842G>A (p.Arg281Gln)	MAN1C1 (R281Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206856	NM_020379.4(MAN1C1):c.913G>A (p.Val305Met)	MAN1C1 (V305M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122476	NM_020379.4(MAN1C1):c.914T>C (p.Val305Ala)	MAN1C1 (V305A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509141	NM_020379.4(MAN1C1):c.953C>T (p.Ala318Val)	MAN1C1 (A318V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248918	NM_020379.4(MAN1C1):c.1120G>A (p.Val374Met)	MAN1C1 (V374M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494401	NM_020379.4(MAN1C1):c.1211G>A (p.Gly404Asp)	MAN1C1 (G404D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051149	NM_020379.4(MAN1C1):c.1245C>T (p.Tyr415=)	MAN1C1	Single nucleotide variant (synonymous variant)	MAN1C1-related disorder	GLikely benign
Select item 2557299	NM_020379.4(MAN1C1):c.1417C>T (p.His473Tyr)	MAN1C1 (H305Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594217	NM_020379.4(MAN1C1):c.1472G>A (p.Arg491His)	MAN1C1 (R262H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335721	NM_020379.4(MAN1C1):c.1516G>A (p.Gly506Ser)	MAN1C1 (G277S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033473	NM_020379.4(MAN1C1):c.1524G>A (p.Glu508=)	MAN1C1	Single nucleotide variant (synonymous variant)	MAN1C1-related disorder	GLikely benign
Select item 2235146	NM_020379.4(MAN1C1):c.1621T>C (p.Tyr541His)	MAN1C1 (Y565H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519932	NM_020379.4(MAN1C1):c.1669C>T (p.Arg557Trp)	MAN1C1 (R328W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039110	NM_020379.4(MAN1C1):c.1701C>T (p.Asp567=)	MAN1C1	Single nucleotide variant (synonymous variant)	MAN1C1-related disorder	GLikely benign
Select item 2317837	NM_020379.4(MAN1C1):c.1726G>A (p.Asp576Asn)	MAN1C1 (D408N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047019	NM_020379.4(MAN1C1):c.1755G>A (p.Ala585=)	MAN1C1	Single nucleotide variant (synonymous variant)	MAN1C1-related disorder	GLikely benign
Select item 3035883	NM_020379.4(MAN1C1):c.1766+9T>C	MAN1C1	Single nucleotide variant (intron variant)	MAN1C1-related disorder	GLikely benign
Select item 3035103	NM_020379.4(MAN1C1):c.1767-4A>G	MAN1C1	Single nucleotide variant (intron variant)	MAN1C1-related disorder	GLikely benign
Select item 3038749	NM_020379.4(MAN1C1):c.1767-3C>T	MAN1C1	Single nucleotide variant (intron variant)	MAN1C1-related disorder	GBenign
Select item 3122465	NM_020379.4(MAN1C1):c.1774T>C (p.Tyr592His)	MAN1C1 (Y424H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1808870	GRCh37/hg19 1p36.11(chr1:25889422-26107499)x3	LDLRAP1, MAN1C1	Copy number gain	not provided	GUncertain significance
Select item 1365639	NC_000001.10:g.(?_25870190)_(26142209_?)del	LDLRAP1, MAN1C1 +1 more	Deletion	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 929348	GRCh37/hg19 1p36.11(chr1:25872197-26274156)x3	AUNIP, LDLRAP1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565082	GRCh37/hg19 1p36.11(chr1:25889421-26107499)x3	MAN1C1, LDLRAP1	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 52