ClinVar for MedGen (Select 854601) - ClinVar

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

Links from MedGen

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2504604	NM_005921.2(MAP3K1):c.4460G>A (p.Arg1487His)	MAP3K1 (R1487H)	Single nucleotide variant (missense variant)	Hearing loss	GUncertain significance
Select item 977488	NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)	CLDN9	Duplication (inframe_insertion)	Hearing loss, autosomal recessive 116 +1 more	GPathogenic/Likely pathogenic
Select item 929503	NM_005632.2:c.2904+1_2905-45del	CAPN15	Deletion	imperforated anus +10 more	GLikely pathogenic
Select item 873538	NM_005172.2(ATOH1):c.481C>G (p.Arg161Gly)	ATOH1 (R161G)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 804310	NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys)	SLC12A2 (E979K)	Single nucleotide variant (missense variant +2 more)	Hearing loss, autosomal dominant 78 +1 more	GPathogenic; association
Select item 804309	NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr)	SLC12A2 (P988T)	Single nucleotide variant (missense variant +2 more)	Hearing loss, autosomal dominant 78 +1 more	GPathogenic; association
Select item 804308	NM_001046.3(SLC12A2):c.2930-2A>G	SLC12A2	Single nucleotide variant (splice acceptor variant +1 more)	Hearing loss, autosomal dominant 78 +1 more	GPathogenic; association
Select item 804307	NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr)	SLC12A2 (D981Y)	Single nucleotide variant (missense variant +2 more)	Hearing loss, autosomal dominant 78 +1 more	GPathogenic; association
Select item 560671	NM_004004.6(GJB2):c.646A>C (p.Arg216=)	GJB2	Single nucleotide variant (synonymous variant)	Hearing loss	GLikely benign
Select item 560670	NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)	GJB2 (E187G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 560669	NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	GJB2 (R184W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 560668	NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter)	GJB2 (Y158*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 560667	NM_004004.6(GJB2):c.226C>G (p.Leu76Val)	GJB2 (L76V)	Single nucleotide variant (missense variant)	Hearing loss	GUncertain significance
Select item 560666	NM_004004.6(GJB2):c.223C>G (p.Arg75Gly)	GJB2 (R75G)	Single nucleotide variant (missense variant)	Hearing loss	GLikely pathogenic
Select item 499513	NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	GJB2 (R32L)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GPathogenic/Likely pathogenic
Select item 446164	NM_002764.4(PRPS1):c.641G>C (p.Arg214Pro)	PRPS1 (R214P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 446163	NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp)	PRPS1 (R214W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 419644	NM_000260.4(MYO7A):c.1563del (p.Asp521fs)	MYO7A (D521fs +1 more)	Deletion (frameshift variant)	Hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 371766	NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	GJB2 (I20T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +3 more	GPathogenic/Likely pathogenic
Select item 229257	NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys)	SLC26A4 (E773K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 229100	NM_001292063.2(OTOG):c.6997G>A (p.Val2333Met)	OTOG (V2345M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 228274	NM_001031679.3(MSRB3):c.264-1G>A	MSRB3	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness	GLikely pathogenic
Select item 189155	NM_004004.6(GJB2):c.-23G>T	GJB2	Single nucleotide variant (5 prime UTR variant)	Nonsyndromic genetic hearing loss +2 more	GLikely pathogenic
Select item 189051	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2 (K112fs)	Deletion (frameshift variant)	Ichthyosis, hystrix-like, with hearing loss +10 more	GPathogenic/Likely pathogenic
Select item 188488	NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	GJB2 (E119K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 177737	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2 (V91fs)	Duplication	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GPathogenic
Select item 158607	NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	GJB2 (H100Y)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 94392	NM_004004.6(GJB2):c.35dup (p.Val13fs)	GJB2 (V13fs)	Duplication	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 44761	NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)	GJB2	Indel	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 44760	NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	GJB2 (F191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance FDA Recognized database
Select item 44749	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	GJB2 (S139N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GConflicting classifications of pathogenicity
Select item 44744	NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)	GJB2 (Q124*)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic
Select item 44742	NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	GJB2 (K122I)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 44740	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	GJB2 (G12C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 44737	NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	GJB2 (K105fs)	Deletion	Nonsyndromic genetic hearing loss +5 more	GPathogenic/Likely pathogenic
Select item 44725	NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	GJB2 (Q57*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 more	GPathogenic
Select item 43206	NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)	MYO7A (G1159V +1 more)	Single nucleotide variant (missense variant)	Hearing loss +6 more	GPathogenic/Likely pathogenic
Select item 29662	NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	GJB2 (R184Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +6 more	GPathogenic/Likely pathogenic
Select item 21389	NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	GJB2 (S19T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 1A +15 more	GPathogenic/Likely pathogenic
Select item 17020	NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	GJB2 (D50N)	Single nucleotide variant (missense variant)	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome +3 more	GPathogenic
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +14 more	GConflicting classifications of pathogenicity
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17012	NM_004004.6(GJB2):c.196G>C (p.Asp66His)	GJB2 (D66H)	Single nucleotide variant (missense variant)	Hearing loss +1 more	GPathogenic
Select item 17010	NM_004004.6(GJB2):c.167del (p.Leu56fs)	GJB2 (L56fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	GJB2-related condition +12 more	GPathogenic
Select item 17007	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	GJB2 (R184P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +10 more	GConflicting classifications of pathogenicity
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Hearing impairment +11 more	GPathogenic
Select item 17005	NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	GJB2 (E47*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher +11 more	GPathogenic
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17002	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	GJB2 (W24*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17000	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	GJB2 (M34T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 52