CN239341[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 291834	NM_003051.4(SLC16A1):c.*1085dup	SLC16A1	Duplication (3 prime UTR variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 291835	NM_003051.4(SLC16A1):c.*1085del	SLC16A1	Deletion (3 prime UTR variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 291840	NM_003051.4(SLC16A1):c.*969dup	SLC16A1	Duplication (3 prime UTR variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 291848	NM_003051.4(SLC16A1):c.135_136insTTT	SLC16A1	Insertion (3 prime UTR variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 291862	NM_003051.4(SLC16A1):c.963C>T (p.Asn321=)	SLC16A1	Single nucleotide variant (synonymous variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 291868	NM_003051.4(SLC16A1):c.362-58TATT[11]	SLC16A1	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 212184	NM_003051.4(SLC16A1):c.362-58TATT[9]	SLC16A1	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 291869	NM_003051.4(SLC16A1):c.362-14_362-13insTTTC	SLC16A1	Insertion (intron variant)	not provided +2 more	GLikely benign
Select item 291914	NM_003051.3(SLC16A1):c.-208_-205del	LOC129931218, SLC16A1	Deletion (genic upstream transcript variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 291916	NM_003051.3(SLC16A1):c.-246dup	LOC129931218, SLC16A1	Duplication	Hyperinsulinism, Dominant +1 more	GBenign/Likely benign
Select item 291920	NM_003051.3(SLC16A1):c.-293_-291GGC[5]	LOC129931218, SLC16A1	Microsatellite	Hyperinsulinism, Dominant	GLikely benign
Select item 291923	NM_003051.3(SLC16A1):c.-317C>G	LOC129931218, SLC16A1	Single nucleotide variant	Hyperinsulinism, Dominant	GUncertain significance
Select item 360286	NM_000162.5(GCK):c.*759del	GCK	Deletion (3 prime UTR variant +1 more)	Hyperinsulinism, Dominant +4 more	GBenign
Select item 360302	NM_000162.5(GCK):c.198A>G (p.Pro66=)	GCK	Single nucleotide variant (synonymous variant)	Transient Neonatal Diabetes, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 301379	NM_005271.5(GLUD1):c.*1170dup	GLUD1	Duplication (3 prime UTR variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 259739	NM_005271.5(GLUD1):c.1403-11dup	GLUD1	Duplication (intron variant)	Hyperinsulinism, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 301395	NM_005271.5(GLUD1):c.868A>G (p.Met290Val)	GLUD1 (M290V +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 301402	NM_005271.4(GLUD1):c.-100A>G	GLUD1, SHLD2	Single nucleotide variant (genic upstream transcript variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 301403	NM_005271.4(GLUD1):c.-179C>A	GLUD1, SHLD2	Single nucleotide variant (genic upstream transcript variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 301404	NM_005271.4(GLUD1):c.-196C>T	GLUD1, SHLD2	Single nucleotide variant (genic upstream transcript variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 338422	NM_175914.5(HNF4A):c.50-4791_50-4788del	HNF4A	Microsatellite (5 prime UTR variant +1 more)	Hyperinsulinism, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 129239	NM_175914.5(HNF4A):c.50-5C>T	HNF4A	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 338425	NM_175914.5(HNF4A):c.224+17dup	HNF4A	Duplication (intron variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 338427	NM_175914.5(HNF4A):c.726G>A (p.Val242=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 338454	NM_175914.5(HNF4A):c.*1089del	HNF4A	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338459	NM_175914.5(HNF4A):c.*1291TCCTCCCT[1]	HNF4A	Microsatellite (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338473	NM_175914.5(HNF4A):c.*2600T>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 338475	NM_175914.5(HNF4A):c.2674_2675del	HNF4A	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338476	NM_175914.5(HNF4A):c.*2676dup	HNF4A	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338478	NM_175914.5(HNF4A):c.*2677dup	HNF4A	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338477	NM_175914.5(HNF4A):c.2677_2683del	HNF4A	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338479	NM_175914.5(HNF4A):c.*2678dup	HNF4A	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338481	NM_175914.5(HNF4A):c.*2703dup	HNF4A	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338480	NM_175914.5(HNF4A):c.*2679del	HNF4A	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338482	NM_175914.5(HNF4A):c.*2703del	HNF4A	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338483	NM_175914.5(HNF4A):c.2698_2704del	HNF4A	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338485	NM_175914.5(HNF4A):c.*2707dup	HNF4A	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338484	NM_175914.5(HNF4A):c.*2707del	HNF4A	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338486	NM_175914.5(HNF4A):c.*2777del	HNF4A	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 338488	NM_175914.5(HNF4A):c.*2796AC[1]	HNF4A	Microsatellite (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 338497	NM_175914.5(HNF4A):c.*3142del	HNF4A	Deletion (3 prime UTR variant)	Hyperinsulinism, Dominant +1 more	GLikely benign

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Items: 41