C3280358[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 906236	NM_006005.3(WFS1):c.81C>T (p.Leu27=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 179238	NM_006005.3(WFS1):c.95C>T (p.Ser32Leu)	WFS1 (S32L)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +7 more	GUncertain significance/Uncertain risk allele
Select item 215410	NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)	WFS1 (A134T)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 137911	NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)	WFS1 (R161Q)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 178654	NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)	WFS1 (K193Q)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 198190	NM_006005.3(WFS1):c.683G>A (p.Arg228His)	WFS1 (R228H)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 215381	NM_006005.3(WFS1):c.728C>T (p.Ala243Val)	WFS1 (A243V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 178587	NM_006005.3(WFS1):c.854G>A (p.Arg285His)	WFS1 (R285H)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 45462	NM_006005.3(WFS1):c.930A>G (p.Ala310=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +7 more	GBenign
Select item 45463	NM_006005.3(WFS1):c.997G>A (p.Val333Ile)	WFS1 (V333I)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 904089	NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys)	WFS1 (R383C)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +6 more	GUncertain significance
Select item 904869	NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys)	WFS1 (E394K)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +6 more	GUncertain significance
Select item 429753	NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)	WFS1 (V412fs)	Microsatellite (frameshift variant)	Wolfram syndrome 1 +8 more	GPathogenic
Select item 215389	NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)	WFS1 (R457S)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 45436	NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)	WFS1 (L499F)	Single nucleotide variant (missense variant)	Monogenic diabetes +8 more	GBenign/Likely benign
Select item 166591	NM_006005.3(WFS1):c.1530C>T (p.Tyr510=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 215412	NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser)	WFS1 (Y513S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 904987	NM_006005.3(WFS1):c.1739T>A (p.Val580Glu)	WFS1 (V580E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance/Uncertain risk allele
Select item 137915	NM_006005.3(WFS1):c.1797C>A (p.Val599=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +7 more	GBenign/Likely benign
Select item 907591	NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys)	WFS1 (R611C)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +6 more	GUncertain significance
Select item 349320	NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)	WFS1 (W613*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 6 +6 more	GPathogenic
Select item 178597	NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)	WFS1 (R653C)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 215365	NM_006005.3(WFS1):c.1969A>G (p.Met657Val)	WFS1 (M657V)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance/Uncertain risk allele
Select item 349322	NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly)	WFS1 (D713G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +6 more	GUncertain significance
Select item 137919	NM_006005.3(WFS1):c.2158A>G (p.Ile720Val)	WFS1 (I720V)	Single nucleotide variant (missense variant)	Diabetes mellitus +9 more	GBenign/Likely benign
Select item 45448	NM_006005.3(WFS1):c.2184C>T (p.Gly728=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 906718	NM_006005.3(WFS1):c.2246C>T (p.Thr749Met)	WFS1 (T749M)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 45453	NM_006005.3(WFS1):c.2335G>A (p.Val779Met)	WFS1 (V779M)	Single nucleotide variant (missense variant)	Monogenic diabetes +8 more	GConflicting classifications of pathogenicity
Select item 349326	NM_006005.3(WFS1):c.2372G>A (p.Arg791His)	WFS1 (R791H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +6 more	GUncertain significance
Select item 215413	NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys)	WFS1 (E809K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 349328	NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp)	WFS1 (G820D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +7 more	GUncertain significance
Select item 4529	NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)	WFS1 (R859Q)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +7 more	GUncertain significance
Select item 349331	NM_006005.3(WFS1):c.2595C>A (p.His865Gln)	WFS1 (H865Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +6 more	GUncertain significance
Select item 178655	NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)	WFS1 (D866N)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 215403	NM_006005.3(WFS1):c.2603G>A (p.Arg868His)	WFS1 (R868H)	Single nucleotide variant (missense variant)	Autistic behavior +8 more	GUncertain significance
Select item 95325	NM_006005.3(WFS1):c.2611G>A (p.Val871Met)	WFS1 (V871M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +8 more	GConflicting classifications of pathogenicity
Select item 906840	NM_006005.3(WFS1):c.2664G>A (p.Ser888=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +6 more	GConflicting classifications of pathogenicity

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Items: 37