ClinVar for MedGen (Select 902479) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 596711	NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn)	NOTCH2 (Y1186N)	Single nucleotide variant (missense variant)	VATER association +3 more	GUncertain significance
Select item 393549	GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1	AIFM3, ARVCF +44 more	Copy number loss	VATER association	GLikely pathogenic
Select item 393548	GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3	METRNL, TBCD +1 more	Copy number gain	VATER association	GLikely benign
Select item 393547	GRCh37/hg19 17q12(chr17:34815551-36208392)x1	AATF, ACACA +13 more	Copy number loss	VATER association	GPathogenic
Select item 393546	GRCh37/hg19 17p13.3(chr17:1007540-1254875)x3	TRARG1, ABR +2 more	Copy number gain	VATER association	GLikely benign
Select item 393545	GRCh37/hg19 16q23.3(chr16:83414018-83518410)x1	CDH13	Copy number loss	VATER association	GLikely pathogenic
Select item 393544	GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1	SLC28A1, WDR73 +6 more	Copy number loss	VATER association	GLikely benign
Select item 393543	GRCh37/hg19 13q32.3-33.1(chr13:101605129-101748121)x1	NALCN	Copy number loss	VATER association	GLikely benign
Select item 393542	GRCh37/hg19 13q31.3(chr13:93377562-93606814)x1	GPC5	Copy number loss	VATER association	GLikely benign
Select item 393541	GRCh37/hg19 13q14.11(chr13:43505151-43762719)x3	EPSTI1, DNAJC15	Copy number gain	VATER association	GLikely benign
Select item 393540	GRCh37/hg19 12q23.1(chr12:100367541-100489446)x1	ANKS1B, BLTP3B	Copy number loss	VATER association	GLikely benign
Select item 393539	GRCh37/hg19 10q25.1(chr10:107722094-109081424)x3	SORCS1	Copy number gain	VATER association	GLikely benign
Select item 393538	GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3	FXYD4, HNRNPF	Copy number gain	VATER association	GLikely pathogenic
Select item 393537	GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1	FBP1, FBP2	Copy number loss	VATER association	GLikely benign
Select item 393536	GRCh37/hg19 7q35(chr7:147516080-147803861)x1	CNTNAP2	Copy number loss	VATER association	GLikely benign
Select item 393535	GRCh37/hg19 7p21.2(chr7:15424383-15534832)x3	AGMO	Copy number gain	VATER association	GLikely benign
Select item 393534	GRCh37/hg19 5q23.1(chr5:118890915-119082631)x1	FAM170A	Copy number loss	VATER association	GLikely pathogenic
Select item 393533	GRCh37/hg19 5q22.1(chr5:111241351-111390356)x1	NREP	Copy number loss	VATER association	GLikely benign
Select item 393532	GRCh37/hg19 4q13.3(chr4:75720151-75883784)x1	PARM1	Copy number loss	VATER association	GLikely benign
Select item 393531	GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3	CCDC74A, MZT2A +1 more	Copy number gain	VATER association	GLikely benign
Select item 393530	GRCh37/hg19 1q44(chr1:245900039-246475061)x1	SMYD3	Copy number loss	VATER association	GLikely benign
Select item 209076	NM_018062.4(FANCL):c.268del (p.Leu90fs)	FANCL (L90fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 190130	NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys)	FOXF1 (G220C)	Single nucleotide variant (missense variant)	VATER association	GLikely pathogenic

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Items: 23