C3538946[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 272

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876289	NM_002241.5(KCNJ10):c.*3919G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293068	NM_002241.5(KCNJ10):c.*3853G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293069	NM_002241.5(KCNJ10):c.*3840T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293070	NM_002241.5(KCNJ10):c.*3770C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 874309	NM_002241.5(KCNJ10):c.*3737A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293071	NM_002241.5(KCNJ10):c.*3617A>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293072	NM_002241.5(KCNJ10):c.*3506C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 875236	NM_002241.5(KCNJ10):c.*3458G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 875237	NM_002241.5(KCNJ10):c.*3250G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 293073	NM_002241.5(KCNJ10):c.*3180G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293074	NM_002241.5(KCNJ10):c.*3170G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876200	NM_002241.5(KCNJ10):c.*3158C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876201	NM_002241.5(KCNJ10):c.*3130C>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293075	NM_002241.5(KCNJ10):c.*3104T>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293076	NM_002241.5(KCNJ10):c.*3074C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293077	NM_002241.5(KCNJ10):c.*3023T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293078	NM_002241.5(KCNJ10):c.*2971G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876336	NM_002241.5(KCNJ10):c.*2896T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293079	NM_002241.5(KCNJ10):c.*2827C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 874369	NM_002241.5(KCNJ10):c.*2754G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293081	NM_002241.5(KCNJ10):c.*2649G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 874370	NM_002241.5(KCNJ10):c.*2624G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293082	NM_002241.5(KCNJ10):c.*2596A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875290	NM_002241.5(KCNJ10):c.*2554G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293084	NM_002241.5(KCNJ10):c.*2520C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 875291	NM_002241.5(KCNJ10):c.*2516C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293085	NM_002241.5(KCNJ10):c.*2490G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 293086	NM_002241.5(KCNJ10):c.*2479G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876253	NM_002241.5(KCNJ10):c.*2406T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293088	NM_002241.5(KCNJ10):c.*2394T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 293089	NM_002241.5(KCNJ10):c.*2373C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876371	NM_002241.5(KCNJ10):c.*2242T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +2 more	GConflicting classifications of pathogenicity
Select item 876372	NM_002241.5(KCNJ10):c.*2148A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 293090	NM_002241.5(KCNJ10):c.*2062T>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 293091	NM_002241.5(KCNJ10):c.*2040C>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 874420	NM_002241.5(KCNJ10):c.*2034C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874421	NM_002241.5(KCNJ10):c.*2001T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293098	NM_002241.5(KCNJ10):c.*1855T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293099	NM_002241.5(KCNJ10):c.*1839C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GConflicting classifications of pathogenicity
Select item 293100	NM_002241.5(KCNJ10):c.*1827T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 875331	NM_002241.5(KCNJ10):c.*1813C>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 875332	NM_002241.5(KCNJ10):c.*1809C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 875333	NM_002241.5(KCNJ10):c.*1789G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293101	NM_002241.5(KCNJ10):c.*1788C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293102	NM_002241.5(KCNJ10):c.*1764T>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GBenign
Select item 293103	NM_002241.5(KCNJ10):c.*1653T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 876412	NM_002241.5(KCNJ10):c.*1498T>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 293104	NM_002241.5(KCNJ10):c.*1435C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 876413	NM_002241.5(KCNJ10):c.*1430C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 876414	NM_002241.5(KCNJ10):c.*1368C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 874464	NM_002241.5(KCNJ10):c.*1258G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293105	NM_002241.5(KCNJ10):c.*1165G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293106	NM_002241.5(KCNJ10):c.*1161T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874465	NM_002241.5(KCNJ10):c.*1048A>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 874513	NM_002241.5(KCNJ10):c.*1032G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 874514	NM_002241.5(KCNJ10):c.*1027C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 293107	NM_002241.5(KCNJ10):c.*991A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 874515	NM_002241.5(KCNJ10):c.*868C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 875442	NM_002241.5(KCNJ10):c.*793C>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293109	NM_002241.5(KCNJ10):c.*734C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293110	NM_002241.5(KCNJ10):c.*729G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293111	NM_002241.5(KCNJ10):c.*680T>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 876466	NM_002241.5(KCNJ10):c.*413G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 293112	NM_002241.5(KCNJ10):c.*362A>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 876467	NM_002241.5(KCNJ10):c.*347C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876468	NM_002241.5(KCNJ10):c.*266T>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 293113	NM_002241.5(KCNJ10):c.*237A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293114	NM_002241.5(KCNJ10):c.*171C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 873572	NM_002241.5(KCNJ10):c.*93C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GBenign/Likely benign
Select item 873573	NM_002241.5(KCNJ10):c.*89C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GBenign/Likely benign
Select item 293115	NM_002241.5(KCNJ10):c.*73C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293117	NM_002241.5(KCNJ10):c.*21A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293118	NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys)	KCNJ10 (R375C)	Single nucleotide variant (missense variant)	EAST syndrome +2 more	GUncertain significance
Select item 137981	NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=)	KCNJ10	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GConflicting classifications of pathogenicity
Select item 205824	NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg)	KCNJ10 (K354R)	Single nucleotide variant (missense variant)	Nonsyndromic Hearing Loss, Recessive +5 more	GUncertain significance
Select item 875494	NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=)	KCNJ10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 205823	NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)	KCNJ10 (R348H)	Single nucleotide variant (missense variant)	EAST syndrome +5 more	GUncertain significance
Select item 129318	NM_002241.5(KCNJ10):c.812G>A (p.Arg271His)	KCNJ10 (R271H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 129317	NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys)	KCNJ10 (R271C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 205815	NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)	KCNJ10 (D245E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 205829	NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe)	KCNJ10 (L218F)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GUncertain significance
Select item 287539	NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome +3 more	GConflicting classifications of pathogenicity
Select item 195165	NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)	KCNJ10 (E177G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GConflicting classifications of pathogenicity
Select item 293119	NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=)	KCNJ10	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 205827	NM_002241.5(KCNJ10):c.301C>A (p.Pro101Thr)	KCNJ10 (P101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 293120	NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro)	KCNJ10 (L99P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GUncertain significance
Select item 378001	NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)	KCNJ10	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 282077	NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe)	KCNJ10 (L50F)	Single nucleotide variant (missense variant)	EAST syndrome +3 more	GUncertain significance
Select item 239110	NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)	KCNJ10 (D46N)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 211218	NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)	KCNJ10 (R26*)	Single nucleotide variant (nonsense)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 205817	NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp)	KCNJ10 (R18W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 389522	NM_002241.5(KCNJ10):c.21G>A (p.Val7=)	KCNJ10	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GConflicting classifications of pathogenicity
Select item 137982	NM_002241.5(KCNJ10):c.-43G>A	KCNJ10	Single nucleotide variant (5 prime UTR variant)	KCNJ10-related condition +3 more	GBenign/Likely benign
Select item 352700	NM_012188.5(FOXI1):c.-18G>A	FOXI1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 352701	NM_012188.5(FOXI1):c.30C>T (p.Ser10=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 904623	NM_012188.5(FOXI1):c.63C>T (p.Ile21=)	FOXI1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 904624	NM_012188.5(FOXI1):c.161A>G (p.Glu54Gly)	FOXI1 (E54G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 904625	NM_012188.5(FOXI1):c.269G>A (p.Gly90Glu)	FOXI1 (G90E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 352702	NM_012188.5(FOXI1):c.279G>A (p.Arg93=)	FOXI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 352703	NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala)	FOXI1 (G103A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3