ClinVar (all) for Orgtrack (Select 508192) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683896	NM_033409.4(SLC52A3):c.704T>C (p.Leu235Pro)	SLC52A3 (L235P)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683895	NM_194248.3(OTOF):c.5666G>C (p.Trp1889Ser)	OTOF (W1122S +2 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683894	NM_194248.3(OTOF):c.2901C>G (p.Tyr967Ter)	OTOF (Y220* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy	GLikely pathogenic
Select item 2683893	NM_194248.3(OTOF):c.4847T>C (p.Leu1616Pro)	OTOF (L1616P +2 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683892	NM_194248.3(OTOF):c.4791del (p.Tyr1598fs)	OTOF (Y1598fs +2 more)	Deletion (frameshift variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683891	NM_194248.3(OTOF):c.3321dup (p.Ile1108fs)	OTOF (I1108fs +2 more)	Duplication (frameshift variant)	Auditory neuropathy +1 more	GPathogenic/Likely pathogenic
Select item 2683890	NM_130837.3(OPA1):c.1366G>C (p.Gly456Arg)	OPA1 (G277R +9 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GPathogenic
Select item 2683889	NM_194248.3(OTOF):c.2781C>A (p.Cys927Ter)	OTOF (C180* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy	GLikely pathogenic
Select item 2683888	NM_194248.3(OTOF):c.5780C>A (p.Ala1927Asp)	OTOF (A1160D +2 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683887	NM_194248.3(OTOF):c.5291+1G>T	OTOF	Single nucleotide variant (splice donor variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683886	NM_194248.3(OTOF):c.5000C>A (p.Ala1667Asp)	OTOF (A1667D +2 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683885	NM_130837.3(OPA1):c.2803_2807del (p.Phe935fs)	OPA1 (F756fs +9 more)	Deletion (frameshift variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683884	NM_194248.3(OTOF):c.5782C>T (p.Arg1928Cys)	OTOF (R1161C +2 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683883	NM_004984.4(KIF5A):c.2396A>G (p.Lys799Arg)	KIF5A (K710R +1 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683882	NM_004208.4(AIFM1):c.1394C>T (p.Ala465Val)	AIFM1, RAB33A (A126V +2 more)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy	GLikely pathogenic
Select item 2683881	NM_006005.3(WFS1):c.2645T>G (p.Phe882Cys)	WFS1 (F882C)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683880	NM_194248.3(OTOF):c.5450G>A (p.Trp1817Ter)	OTOF (W1050* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy	GPathogenic
Select item 2683879	NM_004208.4(AIFM1):c.902A>T (p.Lys301Ile)	AIFM1, RAB33A (K297I +1 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy	GLikely pathogenic
Select item 2683878	NM_006158.5(NEFL):c.760del (p.Leu254fs)	NEFL (L254fs)	Deletion (frameshift variant)	Auditory neuropathy	GPathogenic
Select item 2683877	NM_001792.5(CDH2):c.1805C>G (p.Ala602Gly)	CDH2 (A571G +1 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683876	NM_021830.5(TWNK):c.1388G>A (p.Arg463Gln)	TWNK (R463Q +1 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy	GLikely pathogenic
Select item 2683875	NM_000435.3(NOTCH3):c.709G>T (p.Val237Leu)	NOTCH3 (V237L)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683874	NM_004208.4(AIFM1):c.1408A>T (p.Thr470Ser)	AIFM1, RAB33A (T131S +2 more)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy	GLikely pathogenic
Select item 2683873	NM_194248.3(OTOF):c.765+1G>C	OTOF	Single nucleotide variant (splice donor variant)	Auditory neuropathy	GPathogenic
Select item 2683872	NM_194248.3(OTOF):c.2377G>T (p.Glu793Ter)	OTOF (E103* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy	GPathogenic
Select item 2683871	NM_000260.4(MYO7A):c.2070dup (p.Gly691fs)	MYO7A (G680fs +1 more)	Duplication (frameshift variant)	Auditory neuropathy	GPathogenic
Select item 2683870	NM_194248.3(OTOF):c.4033C>T (p.Gln1345Ter)	OTOF (Q1345* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy	GPathogenic
Select item 2683869	NM_021830.5(TWNK):c.1217G>A (p.Arg406Gln)	TWNK (R406Q)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy	GLikely pathogenic
Select item 2683868	NM_194248.3(OTOF):c.2688del (p.Lys896fs)	OTOF (K149fs +2 more)	Deletion (frameshift variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683867	NM_130837.3(OPA1):c.1498C>G (p.Arg500Gly)	OPA1 (R321G +9 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683866	NM_194248.3(OTOF):c.3399C>A (p.Tyr1133Ter)	OTOF (Y1133* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy +1 more	GPathogenic
Select item 2683865	NM_194323.3(OTOF):c.3532del (p.Val1178fs)	OTOF (V1178fs +1 more)	Deletion (frameshift variant +1 more)	Auditory neuropathy	GPathogenic
Select item 2683864	NM_014874.4(MFN2):c.754A>G (p.Asn252Asp)	MFN2 (N252D)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683863	NM_001127222.2(CACNA1A):c.-5_10del (p.Met1_Phe4del)	CACNA1A	Deletion (inframe_deletion +1 more)	Auditory neuropathy	GPathogenic
Select item 2683862	NM_021625.5(TRPV4):c.1596G>T (p.Leu532Phe)	TRPV4 (L425F +4 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683861	NM_194248.3(OTOF):c.4225A>T (p.Lys1409Ter)	OTOF (K1409* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy	GPathogenic
Select item 2683860	NM_194248.3(OTOF):c.5330A>G (p.Asp1777Gly)	OTOF (D1010G +2 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683859	NM_194248.3(OTOF):c.1539_1554del (p.His513fs)	OTOF (H513fs)	Deletion (frameshift variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683858	NM_006005.3(WFS1):c.2123G>T (p.Arg708Leu)	WFS1 (R708L)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683857	NM_000260.4(MYO7A):c.580C>T (p.Pro194Ser)	MYO7A (P183S +1 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2683856	NM_004208.4(AIFM1):c.1415C>T (p.Ala472Val)	AIFM1, RAB33A (A133V +2 more)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy	GLikely pathogenic
Select item 2683855	NM_003722.5(TP63):c.589G>C (p.Glu197Gln)	TP63 (E103Q +3 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 2637069	NM_000435.3(NOTCH3):c.2129A>G (p.Tyr710Cys)	NOTCH3 (Y710C)	Single nucleotide variant (missense variant)	Auditory neuropathy +1 more	GLikely pathogenic
Select item 2504867	NM_000260.4(MYO7A):c.2221G>A (p.Asp741Asn)	MYO7A (D730N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2501448	NM_006005.3(WFS1):c.1508T>G (p.Val503Gly)	WFS1 (V503G)	Single nucleotide variant (missense variant)	Auditory neuropathy +1 more	GConflicting classifications of pathogenicity
Select item 1978900	NM_001792.5(CDH2):c.1471G>C (p.Val491Leu)	CDH2 (V491L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1805721	NM_024417.5(FDXR):c.623C>T (p.Thr208Met)	FDXR (T156M +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy +1 more	GConflicting classifications of pathogenicity
Select item 1303795	NM_004085.3(TIMM8A):c.133_135del	TIMM8A	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1185622	NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del)	OTOF (I1048del +2 more)	Microsatellite (inframe_deletion)	Auditory neuropathy	GLikely pathogenic
Select item 1185145	NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His)	MYO7A (Y1369H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic
Select item 1185144	NM_000260.4(MYO7A):c.1946G>A (p.Arg649Gln)	MYO7A (R638Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185143	NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala)	SLC52A2 (P42A)	Single nucleotide variant (missense variant)	Auditory neuropathy spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 1185142	NM_001692.4(ATP6V1B1):c.1331_1348del (p.Leu444_Leu449del)	ATP6V1B1	Deletion (inframe_deletion)	Renal tubular acidosis with progressive nerve deafness	GUncertain significance
Select item 1185141	NM_170682.4(P2RX2):c.459_554+1dup	P2RX2	Duplication (splice acceptor variant +1 more)	Autosomal dominant nonsyndromic hearing loss 41	GUncertain significance
Select item 1185140	NM_001384474.1(LOXHD1):c.759+5G>A	LOXHD1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1185139	NM_016239.4(MYO15A):c.9888_9898delinsTCGGGGGG (p.Leu3297_Gln3300delinsArgGlyGlu)	MYO15A	Indel (inframe_indel)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1185138	NM_016239.4(MYO15A):c.4190C>A (p.Ser1397Tyr)	MYO15A (S1397Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1185137	NM_000666.3(ACY1):c.94+11G>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	Aminoacylase 1 deficiency	GUncertain significance
Select item 1185136	NM_001378609.3(OTOGL):c.6949T>C (p.Cys2317Arg)	OTOGL (C2272R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84B	GUncertain significance
Select item 1185135	NM_001378609.3(OTOGL):c.4279+1G>A	OTOGL	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 84B	GLikely pathogenic
Select item 1185134	NM_001145026.2(PTPRQ):c.6603-3T>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1185133	NM_016239.4(MYO15A):c.3435del (p.Lys1146fs)	MYO15A (K1146fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1185132	NM_004208.4(AIFM1):c.1164+16_1164+19del	AIFM1, RAB33A	Deletion (intron variant)	Auditory neuropathy spectrum disorder	GUncertain significance
Select item 1185131	NM_153700.2(STRC):c.4765G>T (p.Val1589Phe)	STRC (V1589F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16	GUncertain significance
Select item 1185130	NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)	MYO7A (Y549C +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1185129	NM_016239.4(MYO15A):c.10183C>T (p.Leu3395Phe)	MYO15A (L3395F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1185128	NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr)	MYO15A (I2894T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1185127	NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg)	MYO15A (G673R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1185126	NM_000092.5(COL4A4):c.1030-2del	COL4A4	Deletion (splice acceptor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1185125	NM_032119.4(ADGRV1):c.15492C>A (p.Ser5164Arg)	ADGRV1 (S5164R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C	GUncertain significance
Select item 1185124	NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala)	HARS2 (G324A +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GLikely pathogenic
Select item 1185123	NM_012208.4(HARS2):c.399+1G>A	HARS2	Single nucleotide variant (intron variant +1 more)	Perrault syndrome 2	GLikely pathogenic
Select item 1185122	NM_000260.4(MYO7A):c.6545G>C (p.Cys2182Ser)	MYO7A (C2133S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2	GUncertain significance
Select item 1185121	NM_000260.4(MYO7A):c.5043G>A (p.Val1681=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 2	GUncertain significance
Select item 1185120	NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu)	PTPRQ (P2038L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 1185119	NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp)	LOC111982869, CDH23 (G2671D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185118	NC_000016.10:g.21730837_21730930del	OTOA	Deletion	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 1185117	NM_178335.3(CCDC50):c.679C>T (p.Arg227Trp)	CCDC50 (R227W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1185116	NM_206933.4(USH2A):c.11279G>C (p.Ser3760Thr)	USH2A (S3760T)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 1185115	NM_206933.4(USH2A):c.13876C>G (p.Gln4626Glu)	USH2A (Q4626E)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 1185114	NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr)	PTPRQ (A2176T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1185113	NM_032119.4(ADGRV1):c.7255C>T (p.Pro2419Ser)	ADGRV1 (P2419S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C	GUncertain significance
Select item 1185112	NM_001292063.2(OTOG):c.7722C>T (p.Pro2574=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1185111	NM_001292063.2(OTOG):c.516C>T (p.Pro172=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1185110	NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe)	OTOF, LOC112840921	Insertion (inframe_insertion)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1185109	NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu)	OTOF, LOC112840921 (R1013L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1185108	NM_144672.4(OTOA):c.1348A>G (p.Met450Val)	OTOA (M126V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 1185107	NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs)	OTOA (F197fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 1185106	NM_194248.3(OTOF):c.2676G>A (p.Lys892=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1185105	NM_194248.3(OTOF):c.3260A>T (p.Asp1087Val)	OTOF (D1087V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1185104	NM_194248.3(OTOF):c.669del (p.Ala224fs)	OTOF (A224fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1185103	NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn)	PTPRQ (S2201N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 1185102	NM_001145026.2(PTPRQ):c.3873+5G>T	PTPRQ	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 1185101	NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup)	OTOF	Duplication (inframe_insertion)	Auditory neuropathy	GLikely pathogenic
Select item 1185100	NM_194248.3(OTOF):c.2406+2dup	OTOF	Duplication (splice donor variant)	Auditory neuropathy	GLikely pathogenic
Select item 1185099	NM_194248.3(OTOF):c.5104-1G>T	OTOF, LOC112840921	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1185098	NM_138691.3(TMC1):c.797T>C (p.Ile266Thr)	TMC1 (I266T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 1185097	NM_138691.3(TMC1):c.1551A>C (p.Glu517Asp)	TMC1 (E517D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 1185096	NM_153700.2(STRC):c.64+1_3138+1del	STRC	Deletion (splice acceptor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
Select item 1185095	NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)	STRC (Q1186fs)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic

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