C3280127[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 589168	NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser)	LOC130003078, MAN1B1 (A3S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161508	NM_016219.5(MAN1B1):c.9C>T (p.Ala3=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 589585	NM_016219.5(MAN1B1):c.9C>G (p.Ala3=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1657425	NM_016219.5(MAN1B1):c.15G>A (p.Glu5=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 588165	NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr)	LOC130003078, MAN1B1 (S9T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2740834	NM_016219.5(MAN1B1):c.31G>A (p.Ala11Thr)	LOC130003078, MAN1B1 (A11T)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GBenign
Select item 2722486	NM_016219.5(MAN1B1):c.36C>G (p.Leu12=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 1734072	NM_016219.5(MAN1B1):c.36C>T (p.Leu12=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2139615	NM_016219.5(MAN1B1):c.38G>C (p.Gly13Ala)	LOC130003078, MAN1B1 (G13A)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 3003220	NM_016219.5(MAN1B1):c.42C>T (p.Ser14=)	MAN1B1, LOC130003078	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2163985	NM_016219.5(MAN1B1):c.49T>C (p.Ser17Pro)	LOC130003078, MAN1B1 (S17P)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2047947	NM_016219.5(MAN1B1):c.78G>C (p.Gly26=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2421461	NM_016219.5(MAN1B1):c.102T>C (p.Thr34=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 588085	NM_016219.5(MAN1B1):c.120GCC[6] (p.Pro45dup)	LOC130003078, MAN1B1	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 996982	NM_016219.5(MAN1B1):c.120GCC[3] (p.Pro44_Pro45del)	LOC130003078, LOC130003079 +1 more	Microsatellite (non-coding transcript variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 1955910	NM_016219.5(MAN1B1):c.155T>C (p.Val52Ala)	LOC130003079, MAN1B1 (V16A +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 913496	NM_016219.5(MAN1B1):c.159G>A (p.Thr53=)	LOC130003079, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GConflicting classifications of pathogenicity
Select item 2168040	NM_016219.5(MAN1B1):c.164G>C (p.Ser55Thr)	MAN1B1, LOC130003079 (S19T +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 816942	NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter)	LOC130003079, MAN1B1 (E58*)	Single nucleotide variant (nonsense +1 more)	Rafiq syndrome +1 more	GPathogenic
Select item 129574	NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser)	LOC130003079, MAN1B1 (N59S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign
Select item 365944	NM_016219.5(MAN1B1):c.183C>T (p.Asp61=)	LOC130003079, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 211427	NM_016219.5(MAN1B1):c.213C>G (p.Cys71Trp)	MAN1B1, LOC130003079 (C71W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1992328	NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)	LOC130003079, MAN1B1 (R37S +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GConflicting classifications of pathogenicity
Select item 2186254	NM_016219.5(MAN1B1):c.219+9C>A	LOC130003079, MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2875048	NM_016219.5(MAN1B1):c.219+13C>T	LOC130003079, MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2957376	NM_016219.5(MAN1B1):c.219+16G>C	LOC130003079, MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2723654	NM_016219.5(MAN1B1):c.219+20G>A	LOC130003079, MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 1599456	NM_016219.5(MAN1B1):c.220-20A>C	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GBenign
Select item 1981651	NM_016219.5(MAN1B1):c.220-10C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2185756	NM_016219.5(MAN1B1):c.220-9C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 1928354	NM_016219.5(MAN1B1):c.220-7C>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2724642	NM_016219.5(MAN1B1):c.223T>C (p.Trp75Arg)	MAN1B1 (W75R +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 1076605	NM_016219.5(MAN1B1):c.242T>A (p.Leu81Ter)	MAN1B1 (L81*)	Single nucleotide variant (nonsense +1 more)	Rafiq syndrome	GPathogenic
Select item 1791889	NM_016219.5(MAN1B1):c.247C>T (p.Arg83Trp)	MAN1B1 (R47W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2060713	NM_016219.5(MAN1B1):c.256A>G (p.Ile86Val)	MAN1B1 (I50V +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 588081	NM_016219.5(MAN1B1):c.272C>T (p.Ala91Val)	MAN1B1 (A91V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 1983778	NM_016219.5(MAN1B1):c.298T>G (p.Phe100Val)	MAN1B1 (F100V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 435802	NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)	MAN1B1 (I102L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2872891	NM_016219.5(MAN1B1):c.329-14C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2026210	NM_016219.5(MAN1B1):c.329-9G>C	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GUncertain significance
Select item 1923250	NM_016219.5(MAN1B1):c.329C>T (p.Ala110Val)	MAN1B1 (A110V +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 445844	NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)	MAN1B1 (F113L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 365945	NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly)	MAN1B1 (E116G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 2732691	NM_016219.5(MAN1B1):c.375T>C (p.Ile125=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2965924	NM_016219.5(MAN1B1):c.402C>T (p.Pro134=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 129579	NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)	MAN1B1 (V135I)	Single nucleotide variant (missense variant +1 more)	MAN1B1-related condition +3 more	GBenign/Likely benign
Select item 1962432	NM_016219.5(MAN1B1):c.410C>T (p.Pro137Leu)	MAN1B1 (P101L +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 1629686	NM_016219.5(MAN1B1):c.426G>C (p.Ala142=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 798643	NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome +1 more	GConflicting classifications of pathogenicity
Select item 958223	NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile)	MAN1B1 (T144I)	Single nucleotide variant (non-coding transcript variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2050128	NM_016219.5(MAN1B1):c.439G>C (p.Glu147Gln)	MAN1B1 (E111Q +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 365947	NM_016219.5(MAN1B1):c.459G>A (p.Ser153=)	MAN1B1	Single nucleotide variant (non-coding transcript variant +1 more)	Rafiq syndrome +1 more	GBenign/Likely benign
Select item 1411598	NM_016219.5(MAN1B1):c.466-12A>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GUncertain significance
Select item 1506478	NM_016219.5(MAN1B1):c.482T>C (p.Ile161Thr)	MAN1B1 (I161T)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 1254598	NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter)	MAN1B1 (Q162*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 1986701	NM_016219.5(MAN1B1):c.487C>T (p.Arg163Trp)	MAN1B1 (R163W +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 589250	NM_016219.5(MAN1B1):c.514C>T (p.Pro172Ser)	MAN1B1 (P172S)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome +1 more	GUncertain significance
Select item 2193467	NM_016219.5(MAN1B1):c.525A>G (p.Gln175=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 2062058	NM_016219.5(MAN1B1):c.526G>A (p.Asp176Asn)	MAN1B1 (D140N +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 1433473	NM_016219.5(MAN1B1):c.536A>G (p.Asp179Gly)	MAN1B1 (D179G)	Single nucleotide variant (non-coding transcript variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2779887	NM_016219.5(MAN1B1):c.540G>A (p.Gly180=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 1345318	NM_016219.5(MAN1B1):c.561A>C (p.Lys187Asn)	MAN1B1 (K187N)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 539747	NM_016219.5(MAN1B1):c.564G>A (p.Arg188=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 129572	NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys)	MAN1B1 (R196C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 445685	NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)	MAN1B1 (R196H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 129580	NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu)	MAN1B1 (P197L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 129581	NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu)	MAN1B1 (P201L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 365949	NM_016219.5(MAN1B1):c.620+9C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GConflicting classifications of pathogenicity
Select item 2706466	NM_016219.5(MAN1B1):c.620+10G>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2143399	NM_016219.5(MAN1B1):c.620+10G>A	MAN1B1	Single nucleotide variant (intron variant)	MAN1B1-related condition +1 more	GBenign/Likely benign
Select item 2740718	NM_016219.5(MAN1B1):c.620+12A>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2845853	NM_016219.5(MAN1B1):c.620+20C>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 1933597	NM_016219.5(MAN1B1):c.621-14C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 708077	NM_016219.5(MAN1B1):c.621-5C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 1968109	NM_016219.5(MAN1B1):c.621-4G>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 799092	NM_016219.5(MAN1B1):c.621-4G>A	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 1752839	NM_016219.5(MAN1B1):c.631G>A (p.Ala211Thr)	MAN1B1 (A175T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161430	NM_016219.5(MAN1B1):c.632C>T (p.Ala211Val)	MAN1B1 (A175V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 211430	NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)	MAN1B1 (V212G)	Single nucleotide variant (missense variant +1 more)	MAN1B1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2831294	NM_016219.5(MAN1B1):c.645T>C (p.Pro215=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 365950	NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2101432	NM_016219.5(MAN1B1):c.671G>A (p.Arg224Lys)	MAN1B1 (R224K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 2159953	NM_016219.5(MAN1B1):c.677C>T (p.Ala226Val)	MAN1B1 (A190V +1 more)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 849368	NM_016219.5(MAN1B1):c.677C>G (p.Ala226Gly)	MAN1B1 (A226G)	Single nucleotide variant (missense variant +1 more)	Rafiq syndrome	GUncertain significance
Select item 855081	NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile)	MAN1B1 (T230I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 739694	NM_016219.5(MAN1B1):c.699C>T (p.Pro233=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 1140709	NM_016219.5(MAN1B1):c.705A>G (p.Pro235=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 800258	NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)	MAN1B1 (P236L)	Single nucleotide variant (missense variant +1 more)	MAN1B1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1120842	NM_016219.5(MAN1B1):c.708G>C (p.Pro236=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 589525	NM_016219.5(MAN1B1):c.708G>A (p.Pro236=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome +1 more	GLikely benign
Select item 1092816	NM_016219.5(MAN1B1):c.711C>T (p.Ala237=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome	GLikely benign
Select item 365952	NM_016219.5(MAN1B1):c.717A>G (p.Thr239=)	MAN1B1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1991557	NM_016219.5(MAN1B1):c.730+5G>A	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GUncertain significance
Select item 2897954	NM_016219.5(MAN1B1):c.730+8C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 3005632	NM_016219.5(MAN1B1):c.730+13C>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 1982356	NM_016219.5(MAN1B1):c.730+16C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 2738830	NM_016219.5(MAN1B1):c.731-18CT[2]	MAN1B1	Microsatellite (intron variant)	Rafiq syndrome	GLikely benign
Select item 1622305	NM_016219.5(MAN1B1):c.731-17T>C	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 1939949	NM_016219.5(MAN1B1):c.731-16C>T	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign
Select item 1112849	NM_016219.5(MAN1B1):c.731-9C>G	MAN1B1	Single nucleotide variant (intron variant)	Rafiq syndrome	GLikely benign

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