"Ambry Genetics"[submitter] AND "LOC130003078"[gene] - ClinVar

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Items: 20

	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)	Rafiq syndrome +1 more	GUncertain significance
Select item 589585	NM_016219.5(MAN1B1):c.9C>G (p.Ala3=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome +1 more	GLikely benign
Select item 1784147	NM_016219.5(MAN1B1):c.19A>G (p.Arg7Gly)	LOC130003078, MAN1B1 (R7G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3122460	NM_016219.5(MAN1B1):c.28G>C (p.Gly10Arg)	LOC130003078, MAN1B1 (G10R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1731058	NM_016219.5(MAN1B1):c.33T>C (p.Ala11=)	MAN1B1, LOC130003078	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1734072	NM_016219.5(MAN1B1):c.36C>T (p.Leu12=)	LOC130003078, MAN1B1	Single nucleotide variant (synonymous variant +1 more)	Rafiq syndrome +1 more	GLikely benign
Select item 2476147	NM_016219.5(MAN1B1):c.65C>T (p.Pro22Leu)	LOC130003078, MAN1B1 (P22L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 632038	NM_016219.5(MAN1B1):c.79dup (p.Ala27fs)	LOC130003078, MAN1B1 (A27fs)	Duplication (frameshift variant +1 more)	Rafiq syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3122463	NM_016219.5(MAN1B1):c.88G>C (p.Ala30Pro)	LOC130003078, MAN1B1 (A30P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122458	NM_016219.5(MAN1B1):c.101C>T (p.Thr34Ile)	LOC130003078, MAN1B1 (T34I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606751	NM_016219.5(MAN1B1):c.111G>C (p.Met37Ile)	LOC130003078, MAN1B1 (M37I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383822	NM_016219.5(MAN1B1):c.117_119del (p.Pro45del)	LOC130003078, MAN1B1 (P9del +1 more)	Deletion (inframe_indel +2 more)	Inborn genetic diseases	GLikely benign
Select item 589085	NM_016219.5(MAN1B1):c.120GCC[7] (p.Pro44_Pro45dup)	LOC130003078, MAN1B1	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases	GLikely benign
Select item 588085	NM_016219.5(MAN1B1):c.120GCC[6] (p.Pro45dup)	LOC130003078, MAN1B1	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 996982	NM_016219.5(MAN1B1):c.120GCC[3] (p.Pro44_Pro45del)	LOC130003078, LOC130003079 +1 more	Microsatellite (inframe_deletion +1 more)	Rafiq syndrome +1 more	GUncertain significance
Select item 2454523	NM_016219.5(MAN1B1):c.124C>T (p.Pro42Ser)	LOC130003078, LOC130003079 +1 more (P6S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1769639	NM_016219.5(MAN1B1):c.131_136del (p.Pro44_Pro45del)	LOC130003078, LOC130003079 +1 more	Deletion (inframe_indel +2 more)	Inborn genetic diseases	GLikely benign
Select item 588316	NM_016219.5(MAN1B1):c.130C>T (p.Pro44Ser)	LOC130003078, LOC130003079 +1 more (P44S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1769867	NM_016219.5(MAN1B1):c.131C>T (p.Pro44Leu)	LOC130003079, MAN1B1 +1 more (P8L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 20