C1852271[trait identifier] AND "WangQJ Lab, Chinese People's Liberatio - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2683865	NM_194323.3(OTOF):c.3532del (p.Val1178fs)	OTOF (V1178fs +1 more)	Deletion (frameshift variant +1 more)	Auditory neuropathy	GPathogenic
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 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 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 2683880	NM_194248.3(OTOF):c.5450G>A (p.Trp1817Ter)	OTOF (W1050* +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 2683887	NM_194248.3(OTOF):c.5291+1G>T	OTOF	Single nucleotide variant (splice donor variant)	Auditory neuropathy	GLikely pathogenic
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 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 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 2683861	NM_194248.3(OTOF):c.4225A>T (p.Lys1409Ter)	OTOF (K1409* +2 more)	Single nucleotide variant (nonsense)	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 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 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 2683894	NM_194248.3(OTOF):c.2901C>G (p.Tyr967Ter)	OTOF (Y220* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy	GLikely pathogenic
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 2683868	NM_194248.3(OTOF):c.2688del (p.Lys896fs)	OTOF (K149fs +2 more)	Deletion (frameshift variant)	Auditory neuropathy	GLikely pathogenic
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 2683872	NM_194248.3(OTOF):c.2377G>T (p.Glu793Ter)	OTOF (E103* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy	GPathogenic
Select item 2683859	NM_194248.3(OTOF):c.1539_1554del (p.His513fs)	OTOF (H513fs)	Deletion (frameshift variant)	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 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 2683890	NM_130837.3(OPA1):c.1366G>C (p.Gly456Arg)	OPA1 (G277R +9 more)	Single nucleotide variant (missense variant)	Auditory neuropathy	GPathogenic
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 2683885	NM_130837.3(OPA1):c.2803_2807del (p.Phe935fs)	OPA1 (F756fs +9 more)	Deletion (frameshift variant)	Auditory neuropathy	GLikely pathogenic
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 2683858	NM_006005.3(WFS1):c.2123G>T (p.Arg708Leu)	WFS1 (R708L)	Single nucleotide variant (missense variant)	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 2683878	NM_006158.5(NEFL):c.760del (p.Leu254fs)	NEFL (L254fs)	Deletion (frameshift variant)	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 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 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 2683871	NM_000260.4(MYO7A):c.2070dup (p.Gly691fs)	MYO7A (G680fs +1 more)	Duplication (frameshift variant)	Auditory neuropathy	GPathogenic
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 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 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 1805721	NM_024417.5(FDXR):c.623C>T (p.Thr208Met)	FDXR (T156M +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
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 1978900	NM_001792.5(CDH2):c.1471G>C (p.Val491Leu)	CDH2 (V491L +1 more)	Single nucleotide variant (missense variant)	Auditory neuropathy +2 more	GConflicting classifications of pathogenicity
Select item 2683863	NM_001127222.2(CACNA1A):c.-5_10del (p.Met1_Phe4del)	CACNA1A	Deletion (inframe_deletion +1 more)	Auditory neuropathy	GPathogenic
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 2683875	NM_000435.3(NOTCH3):c.709G>T (p.Val237Leu)	NOTCH3 (V237L)	Single nucleotide variant (missense variant)	Auditory neuropathy	GLikely pathogenic
Select item 873320	NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)	SLC52A3 (R268W)	Single nucleotide variant (missense variant)	Madras motor neuron disease +3 more	GConflicting classifications of pathogenicity
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 1303795	NM_001145951.2(TIMM8A):c.1727_1729del	TIMM8A	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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

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Items: 52