C3150618[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 361467	NM_001715.3(BLK):c.-203C>T	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 911925	NM_001715.3(BLK):c.-201G>A	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361468	NM_001715.3(BLK):c.-190C>T	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GBenign
Select item 361469	NM_001715.3(BLK):c.-165G>T	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GBenign
Select item 361470	NM_001715.3(BLK):c.-124C>T	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 908999	NM_001715.3(BLK):c.-76G>A	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 909000	NM_001715.3(BLK):c.-47C>T	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361471	NM_001715.3(BLK):c.-46A>G	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 909001	NM_001715.3(BLK):c.18C>T (p.Ser6=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 258177	NM_001715.3(BLK):c.39G>A (p.Lys13=)	BLK	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 909863	NM_001715.3(BLK):c.93A>G (p.Gln31=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 128525	NM_001715.3(BLK):c.102C>T (p.Asp34=)	BLK	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 258175	NM_001715.3(BLK):c.116C>T (p.Pro39Leu)	BLK (P39L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 909864	NM_001715.3(BLK):c.129C>A (p.Val43=)	BLK	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361474	NM_001715.3(BLK):c.153G>A (p.Pro51=)	BLK	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 619206	NM_001715.3(BLK):c.164A>G (p.His55Arg)	BLK (H55R)	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361475	NM_001715.3(BLK):c.177C>G (p.Asp59Glu)	BLK (D59E)	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 11 +3 more	GBenign/Likely benign
Select item 361476	NM_001715.3(BLK):c.187G>A (p.Val63Met)	BLK (V63M)	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 11 +2 more	GConflicting classifications of pathogenicity
Select item 12319	NM_001715.3(BLK):c.211G>A (p.Ala71Thr)	BLK (A71T)	Single nucleotide variant (5 prime UTR variant +1 more)	Monogenic diabetes +3 more	GBenign/Likely benign
Select item 361477	NM_001715.3(BLK):c.223C>G (p.Arg75Gly)	BLK (R75G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 128526	NM_001715.3(BLK):c.258G>A (p.Gln86=)	BLK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 361478	NM_001715.3(BLK):c.311G>T (p.Arg104Ile)	BLK (R104I +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 128527	NM_001715.3(BLK):c.330T>C (p.Ser110=)	BLK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 910759	NM_001715.3(BLK):c.368+13G>A	BLK	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 910760	NM_001715.3(BLK):c.369-2A>G	BLK, LOC126860303	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 11 +1 more	GBenign/Likely benign
Select item 619201	NM_001715.3(BLK):c.391C>T (p.Arg131Trp)	BLK, LOC126860303 (R131W +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11 +2 more	GConflicting classifications of pathogenicity
Select item 361479	NM_001715.3(BLK):c.391C>A (p.Arg131=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11 +1 more	GBenign
Select item 361480	NM_001715.3(BLK):c.424A>G (p.Ile142Val)	BLK, LOC126860303 (I142V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 128528	NM_001715.3(BLK):c.435C>T (p.Ala145=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 911982	NM_001715.3(BLK):c.465C>G (p.Thr155=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 258178	NM_001715.3(BLK):c.472+12G>A	BLK, LOC126860303	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 712998	NM_001715.3(BLK):c.473-7C>G	BLK	Single nucleotide variant (intron variant)	BLK-related condition +2 more	GConflicting classifications of pathogenicity
Select item 361481	NM_001715.3(BLK):c.571C>A (p.Pro191Thr)	BLK (P191T +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361482	NM_001715.3(BLK):c.617C>G (p.Ser206Cys)	BLK (S206C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 909058	NM_001715.3(BLK):c.620-11C>T	BLK	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361483	NM_001715.3(BLK):c.639C>T (p.Cys213=)	BLK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 909059	NM_001715.3(BLK):c.668C>T (p.Pro223Leu)	BLK (P152L +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 361484	NM_001715.3(BLK):c.672C>T (p.Ala224=)	BLK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11 +2 more	GConflicting classifications of pathogenicity
Select item 909060	NM_001715.3(BLK):c.677A>C (p.Gln226Pro)	BLK (Q155P +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361485	NM_001715.3(BLK):c.711C>T (p.Pro237=)	BLK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 210528	NM_001715.3(BLK):c.713G>A (p.Arg238Gln)	BLK (R238Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 361486	NM_001715.3(BLK):c.753A>G (p.Gln251=)	BLK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 909914	NM_001715.3(BLK):c.773-9C>T	BLK	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 909915	NM_001715.3(BLK):c.810G>A (p.Thr270=)	BLK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 909916	NM_001715.3(BLK):c.824C>T (p.Thr275Ile)	BLK (T204I +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 128529	NM_001715.3(BLK):c.843T>C (p.Phe281=)	BLK	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 361487	NM_001715.3(BLK):c.879C>T (p.His293=)	BLK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 361488	NM_001715.3(BLK):c.892C>T (p.Arg298Ter)	BLK (R298* +1 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361489	NM_001715.3(BLK):c.974A>C (p.Lys325Thr)	BLK (K325T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 910816	NM_001715.3(BLK):c.980A>T (p.Asp327Val)	BLK (D327V +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11 +1 more	GConflicting classifications of pathogenicity
Select item 549527	NM_001715.3(BLK):c.1021T>G (p.Ser341Ala)	BLK (S341A +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GBenign/Likely benign
Select item 361490	NM_001715.3(BLK):c.1046C>T (p.Ala349Val)	BLK (A349V +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361491	NM_001715.3(BLK):c.1057C>T (p.Arg353Cys)	BLK (R353C +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11 +3 more	GConflicting classifications of pathogenicity
Select item 619205	NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)	BLK (R359C +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11 +3 more	GConflicting classifications of pathogenicity
Select item 361492	NM_001715.3(BLK):c.1089G>A (p.Ala363=)	BLK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361493	NM_001715.3(BLK):c.1120T>G (p.Cys374Gly)	BLK (C374G +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 910817	NM_001715.3(BLK):c.1142T>C (p.Leu381Ser)	BLK (L310S +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361494	NM_001715.3(BLK):c.1208C>T (p.Ala403Val)	BLK (A403V +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 912037	NM_001715.3(BLK):c.1252G>A (p.Val418Met)	BLK (V347M +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 258176	NM_001715.3(BLK):c.1302G>A (p.Val434=)	BLK	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 361495	NM_001715.3(BLK):c.1308C>T (p.Tyr436=)	BLK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361496	NM_001715.3(BLK):c.1349G>A (p.Arg450His)	BLK (R450H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 361497	NM_001715.3(BLK):c.1351G>A (p.Gly451Ser)	BLK (G451S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 912038	NM_001715.3(BLK):c.1374C>T (p.Asp458=)	BLK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 912039	NM_001715.3(BLK):c.1411G>C (p.Glu471Gln)	BLK (E471Q +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 909126	NM_001715.3(BLK):c.*42A>G	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361498	NM_001715.3(BLK):c.*92G>C	BLK	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 909127	NM_001715.3(BLK):c.*130G>T	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361499	NM_001715.3(BLK):c.*161C>G	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361500	NM_001715.3(BLK):c.*176C>T	BLK	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 909128	NM_001715.3(BLK):c.*209C>G	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 909129	NM_001715.3(BLK):c.*214C>T	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 909970	NM_001715.3(BLK):c.*229G>C	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 909971	NM_001715.3(BLK):c.*271G>A	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361502	NM_001715.3(BLK):c.*289G>A	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361503	NM_001715.3(BLK):c.*324G>A	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 12320	NM_001715.3(BLK):c.*338T>G	BLK	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 361504	NM_001715.3(BLK):c.*348C>G	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GBenign
Select item 909972	NM_001715.3(BLK):c.*366G>A	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 909973	NM_001715.3(BLK):c.*371C>A	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 361505	NM_001715.3(BLK):c.*376C>T	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361506	NM_001715.3(BLK):c.*428G>A	BLK	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 361507	NM_001715.3(BLK):c.*444C>A	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GBenign
Select item 910866	NM_001715.3(BLK):c.*461G>A	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 910867	NM_001715.2(BLK):c.*500G>T	BLK	Single nucleotide variant	Maturity-onset diabetes of the young type 11 +1 more	GConflicting classifications of pathogenicity

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Items: 85