ClinVar for MedGen (Select 897748) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341446	NM_001098816.3(TENM4):c.2422G>A (p.Gly808Ser)	TENM4 (G808S)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 3255559	NM_001098816.3(TENM4):c.905G>A (p.Gly302Glu)	TENM4 (G302E)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
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 2437040	NM_001098816.3(TENM4):c.277G>A (p.Gly93Arg)	TENM4 (G93R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2369553	NM_001098816.3(TENM4):c.5419G>A (p.Gly1807Ser)	TENM4 (G1807S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1711849	NM_001098816.3(TENM4):c.1199C>A (p.Pro400His)	TENM4 (P400H)	Single nucleotide variant (missense 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 1342273	NM_001098816.3(TENM4):c.5238C>T (p.Gly1746=)	TENM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1342272	NM_001098816.3(TENM4):c.7191G>A (p.Gln2397=)	TENM4	Single nucleotide variant (synonymous variant)	Tremor, hereditary essential, 5 +1 more	GBenign
Select item 1338998	NM_001098816.3(TENM4):c.510G>A (p.Leu170=)	TENM4	Single nucleotide variant (synonymous variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 1319903	NM_001098816.3(TENM4):c.4273G>A (p.Asp1425Asn)	TENM4 (D1425N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239586	NM_001098816.3(TENM4):c.7509C>T (p.Leu2503=)	TENM4	Single nucleotide variant (synonymous variant)	Tremor, hereditary essential, 5 +1 more	GBenign
Select item 1192521	NM_001098816.3(TENM4):c.5287G>A (p.Gly1763Arg)	TENM4 (G1763R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1031826	NM_001098816.3(TENM4):c.346G>A (p.Asp116Asn)	TENM4 (D116N)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GUncertain significance
Select item 986196	NM_001098816.3(TENM4):c.6323A>G (p.Tyr2108Cys)	TENM4 (Y2108C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 806721	NM_001098816.3(TENM4):c.4895G>A (p.Arg1632His)	TENM4 (R1632H)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5 +1 more	GConflicting classifications of pathogenicity
Select item 773828	NM_001098816.3(TENM4):c.2894A>G (p.Asn965Ser)	TENM4 (N965S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 219135	NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met)	TENM4 (V1138M)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5 +1 more	GUncertain significance
Select item 219134	NM_001098816.3(TENM4):c.4324G>A (p.Ala1442Thr)	TENM4 (A1442T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 219133	NM_001098816.3(TENM4):c.4100C>A (p.Thr1367Asn)	TENM4 (T1367N)	Single nucleotide variant (missense variant)	Tremor, hereditary essential, 5	GPathogenic

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Items: 29