Related gene-specific medical variations for Gene (Select 2257) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062727	GRCh37/hg19 3q28(chr3:192101115-192156513)x1	FGF12	Copy number loss	not specified	GUncertain significance
Select item 3062691	GRCh37/hg19 3q28(chr3:191539899-191904685)x1	FGF12	Copy number loss	not specified	GUncertain significance
Select item 3062671	GRCh37/hg19 3q28-29(chr3:191860743-192468987)x1	FGF12	Copy number loss	not specified	GUncertain significance
Select item 2685948	GRCh37/hg19 3q28(chr3:191645492-192069874)x3	FGF12	Copy number gain	not provided	GUncertain significance
Select item 2576134	NM_004113.6(FGF12):c.232G>C (p.Val78Leu)	FGF12 (V140L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441417	NM_004113.6(FGF12):c.142C>T (p.Pro48Ser)	FGF12 (P110S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 47	GUncertain significance
Select item 2441415	NM_004113.6(FGF12):c.118G>C (p.Asp40His)	FGF12 (D102H +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 47	GUncertain significance
Select item 1809356	GRCh37/hg19 3q28(chr3:191797216-191987987)x3	FGF12	Copy number gain	not provided	GUncertain significance
Select item 1808576	GRCh37/hg19 3q28(chr3:192101116-192156513)x1	FGF12	Copy number loss	not provided	GUncertain significance
Select item 1808395	GRCh37/hg19 3q28(chr3:191331191-192087612)x3	FGF12	Copy number gain	not provided	GUncertain significance
Select item 1696706	NM_004113.6(FGF12):c.491G>A (p.Ser164Asn)	FGF12 (S127N +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 47	GUncertain significance
Select item 1679725	NM_004113.6(FGF12):c.145G>C (p.Val49Leu)	FGF12 (V111L +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 47	GUncertain significance
Select item 1679653	NM_004113.6(FGF12):c.14-47649A>G	FGF12 (K13E)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 47	GUncertain significance
Select item 1339968	GRCh37/hg19 3q28(chr3:191797216-192000361)x3	FGF12	Copy number gain	not provided	GUncertain significance
Select item 1184353	NM_004113.6(FGF12):c.125-3181A>G	FGF12	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 47	GUncertain significance
Select item 686735	GRCh37/hg19 3q28(chr3:192100736-192155879)x1	FGF12	Copy number loss	not provided	GUncertain significance
Select item 562859	GRCh37/hg19 3q28(chr3:191916059-192044332)x1	FGF12	Copy number loss	not provided	GUncertain significance
Select item 562858	GRCh37/hg19 3q28(chr3:191791577-192000361)x3	FGF12	Copy number gain	not provided	GUncertain significance
Select item 442253	GRCh37/hg19 3q28(chr3:192045727-192283390)x1	FGF12	Copy number loss	See cases	GUncertain significance
Select item 156904	NM_004113.6(FGF12):c.13+132700_13+139762del	FGF12	Deletion (intron variant)	Gestational diabetes mellitus uncontrolled	Gnot provided

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Links from Gene

Items: 20