ClinVar for Gene (Select 10261) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285672	NM_005849.4(IGSF6):c.115G>C (p.Glu39Gln)	IGSF6, METTL9 (E39Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285671	NM_005849.4(IGSF6):c.263A>C (p.Asp88Ala)	IGSF6, METTL9 (D88A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285670	NM_005849.4(IGSF6):c.717A>T (p.Glu239Asp)	IGSF6, METTL9 (E239D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285669	NM_005849.4(IGSF6):c.470C>T (p.Ala157Val)	IGSF6, METTL9 (A157V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108929	NM_005849.4(IGSF6):c.588G>C (p.Lys196Asn)	IGSF6, METTL9 (K196N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108928	NM_005849.4(IGSF6):c.550C>A (p.Leu184Ile)	IGSF6, METTL9 (L184I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108927	NM_005849.4(IGSF6):c.532A>G (p.Lys178Glu)	IGSF6, METTL9 (K178E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108926	NM_005849.4(IGSF6):c.511G>A (p.Val171Met)	IGSF6, METTL9 (V171M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108925	NM_005849.4(IGSF6):c.214G>T (p.Ala72Ser)	IGSF6, METTL9 (A72S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108924	NM_005849.4(IGSF6):c.143C>T (p.Thr48Ile)	IGSF6, METTL9 (T48I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063449	GRCh37/hg19 16p12.2(chr16:21596299-21852932)x1	IGSF6, METTL9 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063439	GRCh37/hg19 16p12.2(chr16:21576802-21817922)x1	IGSF6, METTL9 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063438	GRCh37/hg19 16p12.2(chr16:21576802-21841456)x1	IGSF6, METTL9 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063419	GRCh37/hg19 16p12.2(chr16:21576802-21946045)x1	IGSF6, METTL9 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063403	GRCh37/hg19 16p12.2(chr16:21585791-21841354)x1	METTL9, OTOA +1 more	Copy number loss	not specified	GPathogenic
Select item 3063400	GRCh37/hg19 16p12.2(chr16:21576802-21852932)x1	IGSF6, METTL9 +2 more	Copy number loss	not specified	GPathogenic
Select item 2685563	GRCh37/hg19 16p12.2(chr16:21405328-21841354)x1	IGSF6, METTL9 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2614616	NM_005849.4(IGSF6):c.28G>A (p.Ala10Thr)	IGSF6, METTL9 (A10T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614615	NM_005849.4(IGSF6):c.21C>A (p.Ser7Arg)	IGSF6, METTL9 (S7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602634	NM_005849.4(IGSF6):c.5G>A (p.Gly2Glu)	IGSF6, METTL9 (G2E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2561251	NM_005849.4(IGSF6):c.548C>T (p.Pro183Leu)	IGSF6, METTL9 (P183L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556039	NM_005849.4(IGSF6):c.635A>G (p.His212Arg)	IGSF6, METTL9 (H212R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546269	NM_005849.4(IGSF6):c.71C>T (p.Ala24Val)	IGSF6, METTL9 (A24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489988	NM_005849.4(IGSF6):c.392A>G (p.Lys131Arg)	IGSF6, METTL9 (K131R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370780	NM_005849.4(IGSF6):c.62G>A (p.Cys21Tyr)	IGSF6, METTL9 (C21Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2333170	NM_005849.4(IGSF6):c.698G>T (p.Arg233Ile)	IGSF6, METTL9 (R233I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238043	NM_005849.4(IGSF6):c.104C>T (p.Pro35Leu)	IGSF6, METTL9 (P35L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219992	NM_005849.4(IGSF6):c.602G>A (p.Arg201His)	IGSF6, METTL9 (R201H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217298	NM_005849.4(IGSF6):c.497T>C (p.Val166Ala)	IGSF6, METTL9 (V166A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1800457	NC_000016.10:g.(?_21624041)_(21730798_?)del	IGSF6, LOC130058625 +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 1706488	GRCh37/hg19 16p12.2(chr16:21596299-21946045)x1	IGSF6, METTL9 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1339937	GRCh37/hg19 16p12.2(chr16:21571710-22428364)x3	CDR2, EEF2K +10 more	Copy number gain	not provided	Gnot provided
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 1175706	NC_000016.9:g.(?_21623965)_(21730823_21968737)del	METTL9, UQCRC2 +3 more	Deletion	Autosomal recessive nonsyndromic hearing loss 22	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 972953	GRCh37/hg19 16p12.2(chr16:21596299-21787031)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	Gnot provided
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 815810	GRCh37/hg19 16p12.2(chr16:21576802-22431357)x1	CDR2, EEF2K +10 more	Copy number loss	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 689334	GRCh37/hg19 16p12.2(chr16:21618158-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 689315	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 689207	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 688892	GRCh37/hg19 16p12.2(chr16:21596299-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 688728	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 688708	GRCh37/hg19 16p12.2(chr16:21533209-21804884)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 688624	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 688594	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 688518	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 688358	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 688008	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 688000	GRCh37/hg19 16p12.2(chr16:21581217-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 687781	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 687423	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 687197	GRCh37/hg19 16p12.2(chr16:21596299-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 687120	GRCh37/hg19 16p12.2(chr16:21596299-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686972	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686841	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686837	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686787	GRCh37/hg19 16p12.2(chr16:21586020-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686784	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686782	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686778	GRCh37/hg19 16p12.2(chr16:21586020-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686645	GRCh37/hg19 16p12.2(chr16:21596299-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686460	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686323	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686322	GRCh37/hg19 16p12.2(chr16:21509521-21762200)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686213	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686198	GRCh37/hg19 16p12.2(chr16:21596299-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 686173	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685824	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685779	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685648	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685499	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685360	GRCh37/hg19 16p12.2(chr16:21545601-21807834)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685313	GRCh37/hg19 16p12.2(chr16:21596299-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685297	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685248	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685162	GRCh37/hg19 16p12.2(chr16:21618158-21852932)x1	IGSF6, METTL9 +2 more	Copy number loss	not provided	GPathogenic
Select item 685124	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685087	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 685072	GRCh37/hg19 16p12.2(chr16:21573708-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 684936	GRCh37/hg19 16p12.2(chr16:21585362-21745083)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 684885	GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1	IGSF6, METTL9 +1 more	Copy number loss	not provided	GPathogenic
Select item 634823	NC_000016.9:g.(21575218_21624036)_(21747738_21777910)del	IGSF6, METTL9 +1 more	Deletion	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ALDOA, APOBR +102 more	Copy number loss	See cases	GPathogenic
Select item 441925	GRCh37/hg19 16p12.2(chr16:21596299-21787031)x1	IGSF6, METTL9 +1 more	Copy number loss	See cases	GUncertain significance
Select item 425539	GRCh37/hg19 16p12.2(chr16:21599687-21739885)x3	IGSF6, METTL9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic

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