Related gene-specific medical variations for Gene (Select 26011) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582627	NM_001098816.3(TENM4):c.1126G>A (p.Glu376Lys)	TENM4 (E376K)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 2441966	NM_001098816.3(TENM4):c.7557C>G (p.Ile2519Met)	TENM4 (I2519M)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 2437041	NM_001098816.3(TENM4):c.553C>T (p.His185Tyr)	TENM4 (H185Y)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 2437039	NM_001098816.3(TENM4):c.4981_4982del (p.Lys1661fs)	TENM4 (K1661fs)	Deletion (frameshift variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 2437038	NM_001098816.3(TENM4):c.7939G>A (p.Val2647Ile)	TENM4 (V2647I)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 2437037	NM_001098816.3(TENM4):c.1400A>G (p.Asn467Ser)	TENM4 (N467S)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 2437036	NM_001098816.3(TENM4):c.1520C>T (p.Ala507Val)	TENM4 (A507V)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 2437035	NM_001098816.3(TENM4):c.1471-9_1471-6del	TENM4	Deletion (intron variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 1344494	NM_001098816.3(TENM4):c.1262C>T (p.Pro421Leu)	TENM4 (P421L)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GPathogenic
Select item 980959	GRCh37/hg19 11q14.1(chr11:78576686-78950572)x3	TENM4	Copy number gain	not provided	GUncertain significance
Select item 931802	NM_001098816.3(TENM4):c.4681C>T (p.Arg1561Trp)	TENM4 (R1561W)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 931031	NM_001098816.3(TENM4):c.6668T>C (p.Leu2223Pro)	TENM4 (L2223P)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 815443	GRCh37/hg19 11q14.1(chr11:79002402-79057156)x1	TENM4	Copy number loss	not provided	GUncertain significance
Select item 815442	GRCh37/hg19 11q14.1(chr11:78823168-78890251)x1	TENM4	Copy number loss	not provided	GUncertain significance
Select item 619134	NM_001098816.3(TENM4):c.1556G>A (p.Gly519Glu)	TENM4 (G519E)	Single nucleotide variant (missense variant)	Retinal disorder +1 more	GLikely benign