ClinVar (all) for Orgtrack (Select 505778) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1120226	NM_000271.5(NPC1):c.2531dup (p.Val845fs)	NPC1 (V845fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1065118	NM_006019.4(TCIRG1):c.1978C>T (p.Arg660Cys)	TCIRG1 (R362C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1065117	NM_006019.4(TCIRG1):c.1384_1386del (p.Asn462del)	TCIRG1 (N164del +2 more)	Deletion (inframe_deletion)	Autosomal recessive osteopetrosis 1	GPathogenic
Select item 1065116	NM_000214.3(JAG1):c.1485del (p.Cys496fs)	JAG1 (C496fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1065115	NM_001287.6(CLCN7):c.1561G>A (p.Gly521Arg)	CLCN7 (G497R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GPathogenic
Select item 1064753	NC_000018.10:g.60033942_60033993del		Deletion	Autosomal recessive osteopetrosis 7	GPathogenic
Select item 402285	NM_002473.6(MYH9):c.5137A>G (p.Ser1713Gly)	MYH9 (S1713G)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GPathogenic
Select item 402284	NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val)	CACNA1D (A376V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 402283	NM_001256317.3(TMPRSS3):c.582T>A (p.Cys194Ter)	TMPRSS3 (C194* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 8	GPathogenic
Select item 402282	NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)	LHFPL5 (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 67	GLikely pathogenic
Select item 402281	NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg)	TRIOBP (G1019R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 402280	NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter)	TRIOBP (Q483*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 402279	NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter)	TBCEL-TECTA, TECTA (C1619* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 21	GPathogenic
Select item 402278	NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu)	TMC1 (P511L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 402277	NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	SLC26A4 (F683S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 402275	NM_000441.2(SLC26A4):c.1149+1del	SLC26A4	Deletion (splice donor variant)	Pendred syndrome	GPathogenic
Select item 402273	NM_001384140.1(PCDH15):c.4671+1217C>T	PCDH15 (Q1576* +1 more)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive nonsyndromic hearing loss 23	GPathogenic
Select item 402272	NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)	POU3F4 (R282L)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher +1 more	GConflicting classifications of pathogenicity
Select item 402271	NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter)	OTOF (R1344* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 402270	NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)	OTOF (R1583C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GPathogenic/Likely pathogenic
Select item 402269	NM_144672.4(OTOA):c.1025A>T (p.Asp342Val)	OTOA (D342V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 402268	NM_000260.4(MYO7A):c.4153-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 2 +1 more	GPathogenic
Select item 402267	NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)	MYO7A (G2163S +2 more)	Single nucleotide variant (missense variant)	Usher syndrome +2 more	GPathogenic/Likely pathogenic
Select item 402266	NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter)	MYO7A (Q2071* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 2 +1 more	GPathogenic
Select item 402265	NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)	MYO7A (Q2066* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GPathogenic/Likely pathogenic
Select item 402264	NM_000260.4(MYO7A):c.2307del (p.Asn769fs)	MYO7A (N758fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1 +1 more	GPathogenic
Select item 402263	NM_004999.4(MYO6):c.897G>T (p.Glu299Asp)	MYO6 (E299D +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37	GLikely pathogenic
Select item 402262	NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys)	MYO15A (E1414K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 402261	NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val)	MYO15A (A408V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402260	NM_016239.4(MYO15A):c.9572G>A (p.Arg3191His)	MYO15A (R3191H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic
Select item 402259	NM_001384474.1(LOXHD1):c.4843G>A (p.Gly1615Arg)	LOXHD1 (G1615R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402258	NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter)	GPSM2 (W326*)	Single nucleotide variant (nonsense)	Chudley-McCullough syndrome	GPathogenic
Select item 402257	NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C	GLikely pathogenic
Select item 402256	NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)	ADGRV1 (G3476R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C	GConflicting classifications of pathogenicity
Select item 402255	NM_001379180.1(ESRRB):c.850G>A (p.Gly284Ser)	ESRRB (G263S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 35	GPathogenic
Select item 402254	NM_001379180.1(ESRRB):c.608G>A (p.Arg203His)	ESRRB (R182H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 35	GPathogenic
Select item 402253	NM_022124.6(CDH23):c.3181G>A (p.Glu1061Lys)	CDH23 (E1061K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GPathogenic
Select item 402252	NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser)	CDH23 (P559S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 402251	NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu)	CDH23 (P346L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GPathogenic/Likely pathogenic
Select item 402250	NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)	CDH23 (P346S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GPathogenic/Likely pathogenic
Select item 402249	NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)	CDH23 (L2735P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 402248	NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)	CDH23 (E1917K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 402247	NM_022124.6(CDH23):c.683A>T (p.Asp228Val)	CDH23 (D228V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 236037	NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr)	MYO15A (D2403Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 228997	NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)	MYO7A (R373C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GConflicting classifications of pathogenicity
Select item 189039	NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	SLC26A4 (G334V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 183332	NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)	PTRH2 (Q85P +1 more)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 +1 more	GPathogenic
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 43505	NM_000441.2(SLC26A4):c.1341+1del	SLC26A4	Deletion (splice donor variant)	not provided +2 more	GPathogenic
Select item 43494	NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	SLC26A4 (C400fs)	Deletion	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic/Likely pathogenic
Select item 40050	NM_013322.3(SNX10):c.152G>A (p.Arg51Gln)	SNX10 (R51Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 4212	NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)	PAX3 (S84F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 4103	NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)	TMC1 (R34*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 36 +3 more	GPathogenic
Select item 2960	NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	NPC1 (G992W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2916	NM_173477.5(USH1G):c.832_851del (p.Ser278fs)	USH1G (S175fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1G	GPathogenic
Select item 1823	NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)	GPSM2 (R127*)	Single nucleotide variant (nonsense)	Chudley-McCullough syndrome	GPathogenic
Select item 1490	NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)	TRIOBP (R347*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GPathogenic

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Items: 57