ClinVar for MedGen (Select 39439) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570679	NM_032538.3(TTBK1):c.367C>T (p.Arg123Ter)	TTBK1 (R123*)	Single nucleotide variant (nonsense)	Mild global developmental delay +5 more	GUncertain significance
Select item 992799	NM_001367624.2(ZNF469):c.2581G>C (p.Asp861His)	ZNF469 (D861H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 992795	NM_003036.4(SKI):c.1439C>T (p.Ser480Leu)	SKI (S480L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 827847	NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter)	CEMIP2 (W1048* +2 more)	Single nucleotide variant (nonsense)	Hypertelorism +5 more	GPathogenic
Select item 827846	NM_013390.3(CEMIP2):c.1358G>A (p.Cys453Tyr)	CEMIP2 (C453Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Hypertelorism +5 more	GPathogenic
Select item 812993	NM_152564.5(VPS13B):c.11699_11702dup (p.Val3903fs)	VPS13B (V3903fs +1 more)	Duplication (frameshift variant)	Myopia +7 more	GLikely pathogenic
Select item 812992	NM_152564.5(VPS13B):c.4745+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GPathogenic
Select item 804288	NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	HARS1 (I351L +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +13 more	GConflicting classifications of pathogenicity
Select item 804287	NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)	HARS1	Duplication (inframe_insertion)	Cerebellar ataxia +11 more	GPathogenic
Select item 692154	NC_000012.12:g.2044152_2088870del	CACNA1C	Deletion	Joint laxity +4 more	GLikely pathogenic
Select item 598959	NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)	CREBBP (R1868Q +1 more)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 598958	NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile)	COL5A2 (M614I)	Single nucleotide variant (missense variant)	High palate +9 more	GUncertain significance
Select item 598947	NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs)	BPTF (V1780fs +1 more)	Deletion (frameshift variant)	See cases +4 more	GPathogenic
Select item 523514	NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met)	SETBP1 (T1387M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +6 more	GConflicting classifications of pathogenicity
Select item 373924	NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)	COL5A1	Single nucleotide variant (synonymous variant)	See cases +2 more	GUncertain significance
Select item 373920	NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)	KIF1B (E825K +1 more)	Single nucleotide variant (missense variant)	Pain +6 more	GUncertain significance
Select item 373919	NM_020451.3(SELENON):c.482G>A (p.Arg161Gln)	SELENON (R161Q +1 more)	Single nucleotide variant (missense variant)	Pain +5 more	GUncertain significance
Select item 300869	NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu)	KAT6B (M643L)	Single nucleotide variant (missense variant +1 more)	Genitopatellar syndrome +6 more	GUncertain significance
Select item 267835	46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn		Complex	Piebaldism +15 more	GUncertain significance
Select item 267828	46;XY;t(7;19)(q32;q13.1)dn		Translocation	Achalasia +13 more	GPathogenic

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Items: 20