"Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic"[submitt - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 678993	NM_006005.3(WFS1):c.-264A>G	WFS1	Single nucleotide variant	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 906170	NM_006005.3(WFS1):c.-148G>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 349294	NM_006005.3(WFS1):c.-141A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 349295	NM_006005.3(WFS1):c.-133G>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 349296	NM_006005.3(WFS1):c.-130C>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 6 +3 more	GConflicting classifications of pathogenicity
Select item 349297	NM_006005.3(WFS1):c.-129A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 907168	NM_006005.3(WFS1):c.-127A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 349298	NM_006005.3(WFS1):c.-106A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 349299	NM_006005.3(WFS1):c.-105T>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1802674	NM_006005.3(WFS1):c.-100C>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1	GBenign
Select item 903823	NM_006005.3(WFS1):c.-93G>C	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 1802671	NM_006005.3(WFS1):c.-55C>T	WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1	GBenign
Select item 903824	NM_006005.3(WFS1):c.-43G>C	WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 382132	NM_006005.3(WFS1):c.-27C>T	WFS1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 137921	NM_006005.3(WFS1):c.-6+11C>T	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +3 more	GBenign/Likely benign
Select item 505403	NM_006005.3(WFS1):c.-4C>T	WFS1	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 130752	NM_006005.3(WFS1):c.9C>T (p.Ser3=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +4 more	GBenign
Select item 45449	NM_006005.3(WFS1):c.21G>T (p.Pro7=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +4 more	GBenign/Likely benign
Select item 349302	NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)	WFS1 (P10S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 215372	NM_006005.3(WFS1):c.56C>T (p.Pro19Leu)	WFS1 (P19L)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 799088	NM_006005.3(WFS1):c.57G>A (p.Pro19=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 929935	NM_006005.3(WFS1):c.61C>G (p.Pro21Ala)	WFS1 (P21A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 386280	NM_006005.3(WFS1):c.69G>A (p.Ala23=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 349303	NM_006005.3(WFS1):c.70C>T (p.Arg24Cys)	WFS1 (R24C)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +2 more	GUncertain significance/Uncertain risk allele
Select item 1810330	NM_006005.3(WFS1):c.81C>G (p.Leu27=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 45461	NM_006005.3(WFS1):c.83A>G (p.Asn28Ser)	WFS1 (N28S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance/Uncertain risk allele
Select item 215373	NM_006005.3(WFS1):c.92C>G (p.Ala31Gly)	WFS1 (A31G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 179238	NM_006005.3(WFS1):c.95C>T (p.Ser32Leu)	WFS1 (S32L)	Single nucleotide variant (missense variant)	Cataract 41 +7 more	GUncertain significance/Uncertain risk allele
Select item 166566	NM_006005.3(WFS1):c.96G>A (p.Ser32=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +3 more	GBenign/Likely benign
Select item 289017	NM_006005.3(WFS1):c.114C>T (p.Ser38=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +4 more	GConflicting classifications of pathogenicity
Select item 1810331	NM_006005.3(WFS1):c.115G>T (p.Glu39Ter)	WFS1 (E39*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1	GLikely pathogenic
Select item 349304	NM_006005.3(WFS1):c.115G>A (p.Glu39Lys)	WFS1 (E39K)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +3 more	GUncertain significance/Uncertain risk allele
Select item 424071	NM_006005.3(WFS1):c.124del (p.Arg42fs)	WFS1 (R42fs)	Deletion (frameshift variant)	Wolfram syndrome 1 +1 more	GPathogenic
Select item 189251	NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	WFS1 (R42*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1 +7 more	GPathogenic/Likely pathogenic
Select item 517412	NM_006005.3(WFS1):c.125G>A (p.Arg42Gln)	WFS1 (R42Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 166568	NM_006005.3(WFS1):c.128C>T (p.Ala43Val)	WFS1 (A43V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 386295	NM_006005.3(WFS1):c.129A>T (p.Ala43=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 349305	NM_006005.3(WFS1):c.132C>T (p.Pro44=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 805752	NM_006005.3(WFS1):c.133G>A (p.Gly45Arg)	WFS1 (G45R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 45435	NM_006005.3(WFS1):c.143C>T (p.Ala48Val)	WFS1 (A48V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 593883	NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)	WFS1 (P52T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 349306	NM_006005.3(WFS1):c.168C>T (p.Asp56=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 252656	NM_006005.3(WFS1):c.169G>A (p.Ala57Thr)	WFS1 (A57T)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 393384	NM_006005.3(WFS1):c.172G>A (p.Ala58Thr)	WFS1 (A58T)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 903895	NM_006005.3(WFS1):c.176C>T (p.Ala59Val)	WFS1 (A59V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 166569	NM_006005.3(WFS1):c.225C>T (p.Asp75=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +4 more	GBenign
Select item 215375	NM_006005.3(WFS1):c.227G>T (p.Gly76Val)	WFS1 (G76V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +7 more	GConflicting classifications of pathogenicity
Select item 391090	NM_006005.3(WFS1):c.231C>T (p.Thr77=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 903896	NM_006005.3(WFS1):c.232G>A (p.Gly78Arg)	WFS1 (G78R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +3 more	GConflicting classifications of pathogenicity
Select item 676437	NM_006005.3(WFS1):c.232+90G>A	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +1 more	GBenign
Select item 761635	NM_006005.3(WFS1):c.234G>C (p.Gly78=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 437294	NM_006005.3(WFS1):c.291C>T (p.Ala97=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +2 more	GBenign/Likely benign
Select item 349311	NM_006005.3(WFS1):c.315+11C>T	WFS1	Single nucleotide variant (intron variant)	WFS1-Related Spectrum Disorders +3 more	GBenign/Likely benign
Select item 668499	NM_006005.3(WFS1):c.315+12G>A	WFS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 676672	NM_006005.3(WFS1):c.316-235C>G	WFS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 672589	NM_006005.3(WFS1):c.316-164A>G	WFS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1810333	NM_006005.3(WFS1):c.316-14T>G	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1	GBenign
Select item 166570	NM_006005.3(WFS1):c.325C>T (p.His109Tyr)	WFS1 (H109Y)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 523067	NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)	WFS1 (Y110*)	Single nucleotide variant (nonsense)	Wolfram syndrome 1 +1 more	GPathogenic
Select item 392143	NM_006005.3(WFS1):c.342C>T (p.Ala114=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 507540	NM_006005.3(WFS1):c.345C>T (p.Gly115=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45457	NM_006005.3(WFS1):c.350C>T (p.Thr117Met)	WFS1 (T117M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1810332	NM_006005.3(WFS1):c.361C>A (p.Leu121Ile)	WFS1 (L121I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 707640	NM_006005.3(WFS1):c.363C>T (p.Leu121=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 228239	NM_006005.3(WFS1):c.375C>T (p.Thr125=)	WFS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1041432	NM_006005.3(WFS1):c.382G>T (p.Asp128Tyr)	WFS1 (D128Y)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GUncertain significance/Uncertain risk allele
Select item 668661	NM_006005.3(WFS1):c.396C>T (p.Leu132=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 750433	NM_006005.3(WFS1):c.399C>T (p.Ala133=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 45458	NM_006005.3(WFS1):c.402G>A (p.Ala134=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +4 more	GBenign/Likely benign
Select item 4519	NM_006005.3(WFS1):c.409_424dup (p.Val142fs)	WFS1 (V142fs)	Duplication (frameshift variant)	WFS1-Related Spectrum Disorders +4 more	GPathogenic/Likely pathogenic
Select item 1000139	NM_006005.3(WFS1):c.412C>T (p.Arg138Cys)	WFS1 (R138C)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 682544	NM_006005.3(WFS1):c.417C>T (p.Arg139=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GLikely benign
Select item 517251	NM_006005.3(WFS1):c.436C>T (p.Arg146Cys)	WFS1 (R146C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 620589	NM_006005.3(WFS1):c.439del (p.Arg147fs)	WFS1 (R147fs)	Deletion (frameshift variant)	Wolfram syndrome 1	GPathogenic
Select item 907296	NM_006005.3(WFS1):c.445T>C (p.Leu149=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 684341	NM_006005.3(WFS1):c.461-281G>C	WFS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 670287	NM_006005.3(WFS1):c.461-208G>C	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +1 more	GBenign
Select item 1810334	NM_006005.3(WFS1):c.461-169_461-168insAGGAGCATG	WFS1	Insertion (intron variant)	Wolfram syndrome 1	GLikely benign
Select item 670289	NM_006005.3(WFS1):c.461-166_461-165insCA	WFS1	Insertion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 676945	NM_006005.3(WFS1):c.461-91G>A	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 45459	NM_006005.3(WFS1):c.461-15C>T	WFS1	Single nucleotide variant (intron variant)	WFS1-Related Spectrum Disorders +4 more	GBenign
Select item 4527	NM_006005.3(WFS1):c.461-9A>G	WFS1	Single nucleotide variant (intron variant)	WFS1-Related Spectrum Disorders +4 more	GBenign
Select item 1454997	NM_006005.3(WFS1):c.468G>A (p.Thr156=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 513398	NM_006005.3(WFS1):c.471C>T (p.Ser157=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 517585	NM_006005.3(WFS1):c.477C>T (p.Asn159=)	WFS1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 594730	NM_006005.3(WFS1):c.498C>G (p.Leu166=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 905840	NM_006005.3(WFS1):c.504C>T (p.Ser168=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +3 more	GConflicting classifications of pathogenicity
Select item 215353	NM_006005.3(WFS1):c.510C>G (p.Thr170=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 809614	NM_006005.3(WFS1):c.529C>T (p.Arg177Cys)	WFS1 (R177C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 229647	NM_006005.3(WFS1):c.535G>A (p.Ala179Thr)	WFS1 (A179T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +6 more	GUncertain significance/Uncertain risk allele
Select item 387998	NM_006005.3(WFS1):c.543G>C (p.Leu181=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GLikely benign
Select item 623222	NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del)	WFS1 (K193del)	Microsatellite (inframe_deletion)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 996897	NM_006005.3(WFS1):c.578dup (p.Gln194fs)	WFS1 (Q194fs)	Duplication (frameshift variant)	Wolfram-like syndrome +1 more	GConflicting classifications of pathogenicity
Select item 178654	NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)	WFS1 (K193Q)	Single nucleotide variant (missense variant)	Cataract 41 +8 more	GConflicting classifications of pathogenicity
Select item 393385	NM_006005.3(WFS1):c.578A>G (p.Lys193Arg)	WFS1 (K193R)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +2 more	GUncertain significance/Uncertain risk allele
Select item 517586	NM_006005.3(WFS1):c.594G>A (p.Ala198=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 618495	NM_006005.3(WFS1):c.601C>A (p.Leu201Met)	WFS1 (L201M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance/Uncertain risk allele
Select item 1810335	NM_006005.3(WFS1):c.615C>T (p.Gly205=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 215379	NM_006005.3(WFS1):c.631+5G>A	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +5 more	GUncertain significance
Select item 227153	NM_006005.3(WFS1):c.631+12C>T	WFS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign

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