7514[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 151826	GRCh38/hg38 3q29(chr3:195631406-195838288)x3	LINC01983, LOC105374297 +10 more	Copy number gain	See cases	GBenign
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 more	Copy number gain	See cases	GUncertain significance
Select item 2654371	NM_018406.7(MUC4):c.15969G>A (p.Pro5323=)	MUC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780435	NM_018406.7(MUC4):c.15852C>T (p.Asp5284=)	MUC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708776	NM_018406.7(MUC4):c.15844G>A (p.Gly5282Arg)	MUC4 (G7288R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654372	NM_018406.7(MUC4):c.15777G>A (p.Ala5259=)	MUC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654373	NM_018406.7(MUC4):c.15243G>C (p.Pro5081=)	MUC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 59981	GRCh38/hg38 3q29(chr3:195755702-197583580)x3	LOC129938303, LOC129938304 +133 more	Copy number gain	See cases	GPathogenic
Select item 2672970	NM_018406.7(MUC4):c.15009A>C (p.Thr5003=)	MUC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654374	NM_018406.7(MUC4):c.14835G>A (p.Ala4945=)	MUC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755266	NM_018406.7(MUC4):c.14513-5C>T	MUC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654375	NM_018406.7(MUC4):c.14367C>T (p.Thr4789=)	MUC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760451	NM_018406.7(MUC4):c.13925-4G>A	MUC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654376	NM_018406.7(MUC4):c.13350G>A (p.Lys4450=)	MUC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654377	NM_018406.7(MUC4):c.12705A>C (p.Thr4235=)	LOC126806930, MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654378	NM_018406.7(MUC4):c.12684C>T (p.Thr4228=)	LOC126806930, MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654379	NM_018406.7(MUC4):c.12660T>A (p.Gly4220=)	LOC126806930, MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672971	NM_018406.7(MUC4):c.12657A>C (p.Thr4219=)	LOC126806930, MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654380	NM_018406.7(MUC4):c.12520_12521del (p.Gly4174fs)	LOC126806930, MUC4 (A6020fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2654381	NM_018406.7(MUC4):c.12472A>G (p.Thr4158Ala)	LOC126806930, MUC4 (T4158A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654382	NM_018406.7(MUC4):c.12446T>G (p.Ile4149Ser)	LOC126806930, MUC4 (I4149S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654383	NM_018406.7(MUC4):c.12444C>T (p.Thr4148=)	LOC126806930, MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654384	NM_018406.7(MUC4):c.12366C>T (p.Ser4122=)	LOC126806930, MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 403118	NM_018406.7(MUC4):c.12360T>G (p.Ser4120=)	LOC126806930, MUC4	Single nucleotide variant (no sequence alteration +2 more)	not specified	GBenign
Select item 2672972	NM_018406.7(MUC4):c.12305T>C (p.Leu4102Pro)	LOC126806930, MUC4 (F5884S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654385	NM_018406.7(MUC4):c.12279C>T (p.His4093=)	LOC126806930, MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3257627	NM_018406.7(MUC4):c.12266C>T (p.Ala4089Val)	LOC126806930, MUC4 (A4089V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654386	NM_018406.7(MUC4):c.12256_12257insTCACCAGCC (p.Ala4086delinsValThrSerPro)	LOC126806930, MUC4	Insertion (inframe_indel +1 more)	not provided	GLikely benign
Select item 2654387	NM_018406.7(MUC4):c.12097_12144del (p.Val4033_Pro4048del)	LOC126806930, MUC4	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2654388	NM_018406.7(MUC4):c.12126C>T (p.Ser4042=)	LOC126806930, MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654389	NM_018406.7(MUC4):c.12078C>T (p.Ser4026=)	LOC126806930, MUC4	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 3234243	NM_018406.7(MUC4):c.12072A>G (p.Ser4024=)	LOC126806930, MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234161	NM_018406.7(MUC4):c.12053C>A (p.Pro4018His)	LOC126806930, MUC4 (P4018H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654390	NM_018406.7(MUC4):c.12014G>A (p.Ser4005Asn)	MUC4 (S4005N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654391	NM_018406.7(MUC4):c.12013A>G (p.Ser4005Gly)	MUC4 (S4005G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654392	NM_018406.7(MUC4):c.12003T>A (p.Leu4001=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654393	NM_018406.7(MUC4):c.11952_11999del (p.Asp3989_Thr4004del)	MUC4	Indel (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2654394	NM_018406.7(MUC4):c.11997C>G (p.Thr3999=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654395	NM_018406.7(MUC4):c.11994C>T (p.Ala3998=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654396	NM_018406.7(MUC4):c.11989C>G (p.His3997Asp)	MUC4 (H3997D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654397	NM_018406.7(MUC4):c.11985A>C (p.Thr3995=)	MUC4	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2654398	NM_018406.7(MUC4):c.11982C>T (p.Ser3994=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654399	NM_018406.7(MUC4):c.11979A>G (p.Val3993=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234249	NM_018406.7(MUC4):c.11943C>G (p.His3981Gln)	MUC4 (H3981Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654400	NM_018406.7(MUC4):c.11882_11929del (p.Val3961_Ser3976del)	MUC4	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2654401	NM_018406.7(MUC4):c.11832A>G (p.Ser3944=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654402	NM_018406.7(MUC4):c.11613C>T (p.Thr3871=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654403	NM_018406.7(MUC4):c.11609C>T (p.Ala3870Val)	MUC4 (A3870V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2672973	NM_018406.7(MUC4):c.11590T>G (p.Ser3864Ala)	MUC4 (S3864A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654404	NM_018406.7(MUC4):c.11527G>A (p.Val3843Ile)	MUC4 (V3843I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654405	NM_018406.7(MUC4):c.11488G>C (p.Ala3830Pro)	MUC4 (A3830P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654406	NM_018406.7(MUC4):c.11237_11284del (p.Pro3746_Leu3761del)	MUC4	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2672974	NM_018406.7(MUC4):c.11256A>G (p.Ser3752=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654407	NM_018406.7(MUC4):c.11223C>T (p.His3741=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654408	NM_018406.7(MUC4):c.11199C>T (p.Ser3733=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654409	NM_018406.7(MUC4):c.11166T>C (p.Ser3722=)	MUC4	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2654410	NM_018406.7(MUC4):c.11104C>A (p.Pro3702Thr)	MUC4 (P3702T)	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 3234198	NM_018406.7(MUC4):c.11052G>A (p.Thr3684=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654411	NM_018406.7(MUC4):c.11019A>T (p.Ala3673=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654412	NM_018406.7(MUC4):c.10989C>G (p.Thr3663=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654413	NM_018406.7(MUC4):c.10959C>T (p.Asp3653=)	MUC4	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2654414	NM_018406.7(MUC4):c.10776A>G (p.Ser3592=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654415	NM_018406.7(MUC4):c.10730T>C (p.Val3577Ala)	MUC4 (V3577A)	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2654416	NM_018406.7(MUC4):c.10707T>G (p.Leu3569=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234244	NM_018406.7(MUC4):c.10673C>T (p.Ala3558Val)	MUC4 (A3558V)	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2654417	NM_018406.7(MUC4):c.10656T>A (p.Pro3552=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654418	NM_018406.7(MUC4):c.10653C>T (p.Thr3551=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654419	NM_018406.7(MUC4):c.10635A>T (p.Val3545=)	MUC4	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2654420	NM_018406.7(MUC4):c.10620C>T (p.Thr3540=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654421	NM_018406.7(MUC4):c.10600G>A (p.Ala3534Thr)	MUC4 (A3534T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654422	NM_018406.7(MUC4):c.10554C>T (p.Ala3518=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654423	NM_018406.7(MUC4):c.10548T>C (p.Gly3516=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654424	NM_018406.7(MUC4):c.10545C>T (p.Thr3515=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654425	NM_018406.7(MUC4):c.10515T>A (p.Leu3505=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654426	NM_018406.7(MUC4):c.10494C>T (p.Ser3498=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654427	NM_018406.7(MUC4):c.10470T>C (p.His3490=)	MUC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654428	NM_018406.7(MUC4):c.10365C>G (p.Thr3455=)	MUC4	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2654429	NM_018406.7(MUC4):c.10220T>C (p.Met3407Thr)	MUC4 (M3407T)	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2654430	NM_018406.7(MUC4):c.10144A>G (p.Ile3382Val)	MUC4 (I3382V)	Single nucleotide variant (no sequence alteration +2 more)	not provided	GLikely benign
Select item 2654431	NM_018406.7(MUC4):c.10127G>A (p.Arg3376His)	MUC4 (P4966H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654432	NM_018406.7(MUC4):c.10115G>A (p.Gly3372Asp)	MUC4 (G3372D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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