ClinVar for Gene (Select 4194) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035976	NM_002393.5(MDM4):c.734T>C (p.Val245Ala)	MDM4 (V147A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	MDM4-related condition	GLikely benign
Select item 3024907	NM_002393.5(MDM4):c.1077C>A (p.Val359=)	MDM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639832	NM_002393.5(MDM4):c.96G>A (p.Pro32=)	MDM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639831	NM_002393.5(MDM4):c.95C>T (p.Pro32Leu)	MDM4 (P32L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2533911	NM_002393.5(MDM4):c.626A>G (p.Asn209Ser)	MDM4 (N209S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2482921	NM_002393.5(MDM4):c.749G>A (p.Gly250Asp)	MDM4 (G152D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 2404115	NM_002393.5(MDM4):c.778A>G (p.Thr260Ala)	MDM4 (T162A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2394777	NM_002393.5(MDM4):c.536C>G (p.Ala179Gly)	MDM4 (A81G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2349886	NM_002393.5(MDM4):c.1066G>A (p.Gly356Arg)	MDM4 (G133R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297004	NM_002393.5(MDM4):c.1135A>C (p.Lys379Gln)	MDM4 (K53Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239473	NM_002393.5(MDM4):c.1193C>T (p.Ala398Val)	MDM4 (A300V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238048	NM_002393.5(MDM4):c.701C>T (p.Thr234Ile)	MDM4 (T136I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2226730	NM_002393.5(MDM4):c.509A>G (p.Glu170Gly)	MDM4 (E170G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2177710	NM_002393.5(MDM4):c.1277A>C (p.Asn426Thr)	MDM4 (N100T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1679681	NM_002393.5(MDM4):c.1045A>G (p.Ile349Val)	MDM4 (I126V +3 more)	Single nucleotide variant (missense variant +2 more)	Bone marrow failure syndrome 6	GUncertain significance
Select item 1333555	NM_002393.5(MDM4):c.1147T>C (p.Ser383Pro)	MDM4 (S160P +4 more)	Single nucleotide variant (missense variant +1 more)	Bone marrow failure syndrome 6	GUncertain significance
Select item 1298448	NM_002393.5(MDM4):c.1087del (p.Arg363fs)	MDM4 (R140fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 869418	NM_002393.5(MDM4):c.1361C>T (p.Thr454Met)	MDM4 (T128M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 777983	NM_002393.5(MDM4):c.511+5G>A	MDM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774283	NM_002393.5(MDM4):c.222A>T (p.Val74=)	MDM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 770500	NM_002393.5(MDM4):c.909G>A (p.Glu303=)	MDM4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 767744	NM_002393.5(MDM4):c.1404G>A (p.Lys468=)	MDM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709590	NM_002393.5(MDM4):c.22G>A (p.Ala8Thr)	LOC126805984, MDM4 (A8T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	AVPR1B, AVPR1B-DT +278 more	Deletion	Autism	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 424927	NM_002393.5(MDM4):c.1120A>C (p.Lys374Gln)	MDM4 (K374Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38