C1853371[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 897780	NM_002500.4(NEUROD1):c.*1601C>A	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333018	NM_002500.4(NEUROD1):c.*1595G>A	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GBenign
Select item 897781	NM_002500.4(NEUROD1):c.*1583T>C	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333019	NM_002500.4(NEUROD1):c.*1555C>T	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GLikely benign
Select item 897782	NM_002500.4(NEUROD1):c.*1486A>G	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333020	NM_002500.4(NEUROD1):c.*1339T>C	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GBenign
Select item 897783	NM_002500.5(NEUROD1):c.*1125T>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333021	NM_002500.5(NEUROD1):c.*1096T>C	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333022	NM_002500.5(NEUROD1):c.*1033T>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GBenign
Select item 898923	NM_002500.5(NEUROD1):c.*907T>C	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 898924	NM_002500.5(NEUROD1):c.*859C>A	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 898925	NM_002500.5(NEUROD1):c.*819C>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 898926	NM_002500.5(NEUROD1):c.*795T>C	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333023	NM_002500.5(NEUROD1):c.*773A>C	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 898927	NM_002500.5(NEUROD1):c.*719G>A	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GLikely benign
Select item 333024	NM_002500.5(NEUROD1):c.*718C>T	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333030	NM_002500.5(NEUROD1):c.*617C>T	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 894794	NM_002500.5(NEUROD1):c.*608T>C	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333031	NM_002500.5(NEUROD1):c.*548T>A	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 894795	NM_002500.5(NEUROD1):c.*454C>T	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 894796	NM_002500.5(NEUROD1):c.*283A>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 894797	NM_002500.5(NEUROD1):c.*253A>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333035	NM_002500.5(NEUROD1):c.*78C>T	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GLikely benign
Select item 894798	NM_002500.5(NEUROD1):c.*75G>T	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 896245	NM_002500.5(NEUROD1):c.*6C>A	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6 +1 more	GBenign
Select item 896246	NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp)	NEUROD1 (A352D)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6 +2 more	GUncertain significance
Select item 333036	NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser)	NEUROD1 (R325S)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6 +1 more	GConflicting classifications of pathogenicity
Select item 896247	NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr)	NEUROD1 (A322T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 896248	NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala)	NEUROD1 (G315A)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333037	NM_002500.5(NEUROD1):c.908A>G (p.Tyr303Cys)	NEUROD1 (Y303C)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 896249	NM_002500.5(NEUROD1):c.841G>T (p.Gly281Cys)	NEUROD1 (G281C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 896250	NM_002500.5(NEUROD1):c.793A>C (p.Thr265Pro)	NEUROD1 (T265P)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 258771	NM_002500.5(NEUROD1):c.777C>T (p.Ser259=)	NEUROD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 549508	NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg)	NEUROD1 (S250R)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GUncertain significance
Select item 897853	NM_002500.5(NEUROD1):c.738G>A (p.Pro246=)	NEUROD1	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 6 +1 more	GLikely benign
Select item 333038	NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile)	NEUROD1 (V216I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 129763	NM_002500.5(NEUROD1):c.590C>A (p.Pro197His)	NEUROD1 (P197H)	Single nucleotide variant (missense variant)	Hypoinsulinemia +4 more	GConflicting classifications of pathogenicity
Select item 897854	NM_002500.5(NEUROD1):c.473G>A (p.Arg158His)	NEUROD1 (R158H)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 897855	NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val)	NEUROD1 (I140V)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6 +2 more	GUncertain significance
Select item 897856	NM_002500.5(NEUROD1):c.311T>G (p.Met104Arg)	NEUROD1 (M104R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 899005	NM_002500.5(NEUROD1):c.129C>G (p.Leu43=)	NEUROD1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 333039	NM_002500.5(NEUROD1):c.129C>A (p.Leu43=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 899006	NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys)	NEUROD1 (E13K)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6 +1 more	GUncertain significance
Select item 899007	NM_002500.5(NEUROD1):c.34G>C (p.Gly12Arg)	NEUROD1 (G12R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 333040	NM_002500.5(NEUROD1):c.-60G>A	NEUROD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 333041	NM_002500.5(NEUROD1):c.-65C>T	NEUROD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 333042	NM_002500.5(NEUROD1):c.-73G>A	NEUROD1	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 6	GBenign
Select item 894870	NM_002500.5(NEUROD1):c.-81C>T	NEUROD1	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333043	NM_002500.4(NEUROD1):c.-102G>A	NEUROD1	Single nucleotide variant	Maturity-onset diabetes of the young type 6	GUncertain significance

ClinVar

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Items: 49