5172[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1526

<< First< Prev

Page of 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 3047586	NM_006348.5(COG5):c.1314-6057G>A	COG5, SLC26A4	Single nucleotide variant (intron variant)	SLC26A4-related condition	GLikely benign
Select item 43485	NM_000441.1(SLC26A4):c.-189A>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified +2 more	GUncertain significance
Select item 358491	NM_000441.1(SLC26A4):c.-186A>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome +1 more	GUncertain significance
Select item 505771	NM_000441.1(SLC26A4):c.-157G>A	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified	GUncertain significance
Select item 1120095	NC_000007.14:g.107660715C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified	GUncertain significance
Select item 358492	NM_000441.1(SLC26A4):c.-139C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified +2 more	GUncertain significance
Select item 4838	NM_000441.1(SLC26A4):c.-103T>C	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 43488	NM_000441.1(SLC26A4):c.-66C>T	SLC26A4-AS1, SLC26A4	Single nucleotide variant	not specified	GLikely benign
Select item 43487	NM_000441.2(SLC26A4):c.-66C>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 666917	NM_000441.1(SLC26A4):c.-60A>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1691740	NC_000007.14:g.107660808G>A	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not provided	GUncertain significance
Select item 910617	NM_000441.1(SLC26A4):c.-40C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome +1 more	GUncertain significance
Select item 358493	NM_000441.2(SLC26A4):c.-8G>A	SLC26A4, SLC26A4-AS1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 165245	NM_000441.2(SLC26A4):c.-4+5G>A	SLC26A4-AS1, SLC26A4	Single nucleotide variant (intron variant)	Rare genetic deafness +2 more	GConflicting classifications of pathogenicity
Select item 1267269	NM_000441.2(SLC26A4):c.-4+90T>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217919	NM_000441.2(SLC26A4):c.-3-261C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198155	NM_000441.2(SLC26A4):c.-3-195C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209241	NM_000441.2(SLC26A4):c.-3-109dup	SLC26A4, SLC26A4-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 43486	NM_000441.2(SLC26A4):c.-3-2A>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SLC26A4-related condition +4 more	GPathogenic/Likely pathogenic
Select item 2136582	NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)	SLC26A4, SLC26A4-AS1 (M1R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 43553	NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)	SLC26A4, SLC26A4-AS1 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +5 more	GPathogenic
Select item 1185667	NM_000441.2(SLC26A4):c.3G>A (p.Met1Ile)	SLC26A4, SLC26A4-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 188721	NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)	SLC26A4, SLC26A4-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2972797	NM_000441.2(SLC26A4):c.9G>A (p.Ala3=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2805256	NM_000441.2(SLC26A4):c.9G>T (p.Ala3=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2911940	NM_000441.2(SLC26A4):c.15C>T (p.Gly5=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 43515	NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43524	NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)	SLC26A4, SLC26A4-AS1 (G6V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1078682	NM_000441.2(SLC26A4):c.21G>A (p.Arg7=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2025703	NM_000441.2(SLC26A4):c.24G>A (p.Ser8=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2576933	NM_000441.2(SLC26A4):c.25G>A (p.Glu9Lys)	SLC26A4, SLC26A4-AS1 (E9K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1073256	NM_000441.2(SLC26A4):c.25G>T (p.Glu9Ter)	SLC26A4, SLC26A4-AS1 (E9*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2866963	NM_000441.2(SLC26A4):c.27G>A (p.Glu9=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 43550	NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)	SLC26A4, SLC26A4-AS1 (P10T)	Single nucleotide variant	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1541290	NM_000441.2(SLC26A4):c.33G>A (p.Pro11=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1101607	NM_000441.2(SLC26A4):c.33G>T (p.Pro11=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2112694	NM_000441.2(SLC26A4):c.36G>A (p.Gln12=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1542727	NM_000441.2(SLC26A4):c.39C>T (p.Leu13=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 618879	NM_000441.2(SLC26A4):c.39C>A (p.Leu13=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 560909	NM_000441.2(SLC26A4):c.42del (p.Glu15fs)	SLC26A4, SLC26A4-AS1 (E15fs)	Deletion (non-coding transcript variant +1 more)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 2832256	NM_000441.2(SLC26A4):c.42C>G (p.Pro14=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1508044	NM_000441.2(SLC26A4):c.42C>T (p.Pro14=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2880325	NM_000441.2(SLC26A4):c.43G>T (p.Glu15Ter)	SLC26A4, SLC26A4-AS1 (E15*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1607865	NM_000441.2(SLC26A4):c.45G>A (p.Glu15=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 557202	NM_000441.2(SLC26A4):c.53_58del (p.Cys18_Ser19del)	SLC26A4, SLC26A4-AS1	Deletion (non-coding transcript variant +1 more)	Pendred syndrome	GUncertain significance
Select item 370620	NM_000441.2(SLC26A4):c.55del (p.Ser19fs)	SLC26A4, SLC26A4-AS1 (S19fs)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1965171	NM_000441.2(SLC26A4):c.57C>T (p.Ser19=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 505477	NM_000441.2(SLC26A4):c.61A>G (p.Met21Val)	SLC26A4, SLC26A4-AS1 (M21V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1306037	NM_000441.2(SLC26A4):c.65T>C (p.Val22Ala)	SLC26A4, SLC26A4-AS1 (V22A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3012812	NM_000441.2(SLC26A4):c.66G>A (p.Val22=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1155079	NM_000441.2(SLC26A4):c.66G>T (p.Val22=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 43563	NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)	SLC26A4, SLC26A4-AS1 (S23*)	Single nucleotide variant (non-coding transcript variant +1 more)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 1543918	NM_000441.2(SLC26A4):c.69G>T (p.Ser23=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 996636	NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)	SLC26A4, SLC26A4-AS1 (R24L)	Single nucleotide variant (non-coding transcript variant +1 more)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 2148890	NM_000441.2(SLC26A4):c.74C>G (p.Pro25Arg)	SLC26A4, SLC26A4-AS1 (P25R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2073100	NM_000441.2(SLC26A4):c.76dup (p.Val26fs)	SLC26A4, SLC26A4-AS1 (V26fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1152623	NM_000441.2(SLC26A4):c.75G>T (p.Pro25=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 517424	NM_000441.2(SLC26A4):c.75G>C (p.Pro25=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1725365	NM_000441.2(SLC26A4):c.78_79del (p.Tyr27fs)	SLC26A4, SLC26A4-AS1 (Y27fs)	Deletion (non-coding transcript variant +1 more)	Pendred syndrome	GLikely pathogenic
Select item 1185668	NM_000441.2(SLC26A4):c.79T>C (p.Tyr27His)	SLC26A4, SLC26A4-AS1 (Y27H)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1613984	NM_000441.2(SLC26A4):c.81C>T (p.Tyr27=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 446459	NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly)	SLC26A4, SLC26A4-AS1 (S28G)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2018278	NM_000441.2(SLC26A4):c.84C>G (p.Ser28Arg)	SLC26A4, SLC26A4-AS1 (S28R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 188998	NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)	SLC26A4, SLC26A4-AS1 (S28R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43569	NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)	SLC26A4, SLC26A4-AS1 (E29*)	Single nucleotide variant (non-coding transcript variant +1 more)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 4839	NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	SLC26A4, SLC26A4-AS1 (E29Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 552271	NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly)	SLC26A4, SLC26A4-AS1 (E29G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1065202	NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp)	SLC26A4, SLC26A4-AS1 (E29D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 554998	NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp)	SLC26A4, SLC26A4-AS1 (E29D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 517167	NM_000441.2(SLC26A4):c.90C>G (p.Leu30=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 2115204	NM_000441.2(SLC26A4):c.93T>C (p.Ala31=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2747670	NM_000441.2(SLC26A4):c.99G>A (p.Gln33=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2036332	NM_000441.2(SLC26A4):c.99_100del (p.Gln34fs)	SLC26A4, SLC26A4-AS1 (Q34fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1726478	NM_000441.2(SLC26A4):c.103_104delinsGCTGCT (p.Gln35fs)	SLC26A4, SLC26A4-AS1 (Q35fs)	Indel (non-coding transcript variant +1 more)	Pendred syndrome	GLikely pathogenic
Select item 2221861	NM_000441.2(SLC26A4):c.104A>T (p.Gln35Leu)	SLC26A4, SLC26A4-AS1 (Q35L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1562593	NM_000441.2(SLC26A4):c.105G>A (p.Gln35=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1799535	NM_000441.2(SLC26A4):c.107A>C (p.His36Pro)	SLC26A4, SLC26A4-AS1 (H36P)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 627471	NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter)	SLC26A4, SLC26A4-AS1 (E37*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1128209	NM_000441.2(SLC26A4):c.111G>A (p.Glu37=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1152455	NM_000441.2(SLC26A4):c.117C>T (p.Arg39=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2277403	NM_000441.2(SLC26A4):c.128G>T (p.Arg43Leu)	SLC26A4, SLC26A4-AS1 (R43L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 504923	NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)	SLC26A4, SLC26A4-AS1 (R43H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GUncertain significance
Select item 644957	NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs)	SLC26A4, SLC26A4-AS1 (K44fs)	Indel (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2896534	NM_000441.2(SLC26A4):c.132G>A (p.Lys44=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887326	NM_000441.2(SLC26A4):c.135G>A (p.Thr45=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 794745	NM_000441.2(SLC26A4):c.135G>T (p.Thr45=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SLC26A4-related condition +1 more	GLikely benign
Select item 2696211	NM_000441.2(SLC26A4):c.145_146dup (p.Ser49fs)	SLC26A4, SLC26A4-AS1 (S49fs)	Microsatellite (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2003737	NM_000441.2(SLC26A4):c.141G>A (p.Arg47=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 371369	NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)	SLC26A4, SLC26A4-AS1 (E48*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2786599	NM_000441.2(SLC26A4):c.144G>A (p.Glu48=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1144946	NM_000441.2(SLC26A4):c.147C>T (p.Ser49=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 227949	NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	SLC26A4-AS1, SLC26A4 (S49R)	Single nucleotide variant (missense variant +1 more)	Pendred syndrome	GLikely benign FDA Recognized database
Select item 2033064	NM_000441.2(SLC26A4):c.148C>T (p.Leu50=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 550555	NM_000441.2(SLC26A4):c.149T>C (p.Leu50Pro)	SLC26A4, SLC26A4-AS1 (L50P)	Single nucleotide variant (non-coding transcript variant +1 more)	Pendred syndrome	GUncertain significance

<< First< Prev

Page of 16