Related gene-specific medical variations for Gene (Select 66000) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178434	NM_023943.4(TMEM108):c.857G>A (p.Gly286Glu)	LOC101927432, TMEM108 (G286E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178433	NM_023943.4(TMEM108):c.748C>A (p.Pro250Thr)	LOC101927432, TMEM108 (P250T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178432	NM_023943.4(TMEM108):c.71C>T (p.Ala24Val)	LOC101927432, TMEM108 (A24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178431	NM_023943.4(TMEM108):c.617C>T (p.Pro206Leu)	LOC101927432, TMEM108 (P206L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178430	NM_023943.4(TMEM108):c.56T>C (p.Leu19Ser)	LOC101927432, TMEM108 (L19S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178429	NM_023943.4(TMEM108):c.488G>A (p.Arg163His)	LOC101927432, TMEM108 (R163H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178426	NM_023943.4(TMEM108):c.356C>T (p.Pro119Leu)	LOC101927432, TMEM108 (P119L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178425	NM_023943.4(TMEM108):c.260G>A (p.Arg87His)	LOC101927432, TMEM108 (R87H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3178424	NM_023943.4(TMEM108):c.217C>A (p.Pro73Thr)	LOC101927432, TMEM108 (P73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178423	NM_023943.4(TMEM108):c.1415T>C (p.Val472Ala)	LOC101927432, TMEM108 (V472A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178422	NM_023943.4(TMEM108):c.1238G>A (p.Arg413Gln)	LOC101927432, TMEM108 (R413Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178421	NM_023943.4(TMEM108):c.1174G>A (p.Val392Ile)	LOC101927432, TMEM108 (V392I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588115	NM_023943.4(TMEM108):c.67G>A (p.Glu23Lys)	LOC101927432, TMEM108 (E23K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559210	NM_023943.4(TMEM108):c.308C>T (p.Thr103Ile)	LOC101927432, TMEM108 (T103I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557218	NM_023943.4(TMEM108):c.59C>A (p.Ala20Glu)	LOC101927432, TMEM108 (A20E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553273	NM_023943.4(TMEM108):c.1294C>T (p.Arg432Cys)	LOC101927432, TMEM108 (R432C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549908	NM_023943.4(TMEM108):c.1076C>G (p.Pro359Arg)	LOC101927432, TMEM108 (P359R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508666	NM_023943.4(TMEM108):c.134C>T (p.Thr45Ile)	LOC101927432, TMEM108 (T45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480036	NM_023943.4(TMEM108):c.1367C>T (p.Pro456Leu)	LOC101927432, TMEM108 (P456L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460336	NM_023943.4(TMEM108):c.374C>T (p.Thr125Ile)	LOC101927432, TMEM108 (T125I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455471	NM_023943.4(TMEM108):c.316G>A (p.Ala106Thr)	LOC101927432, TMEM108 (A106T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2406004	NM_023943.4(TMEM108):c.1306G>A (p.Ala436Thr)	LOC101927432, TMEM108 (A436T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399989	NM_023943.4(TMEM108):c.448A>G (p.Thr150Ala)	LOC101927432, TMEM108 (T150A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381009	NM_023943.4(TMEM108):c.418A>C (p.Thr140Pro)	LOC101927432, TMEM108 (T140P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371170	NM_023943.4(TMEM108):c.187G>A (p.Val63Met)	LOC101927432, TMEM108 (V63M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353670	NM_023943.4(TMEM108):c.518G>A (p.Arg173Gln)	LOC101927432, TMEM108 (R173Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344997	NM_023943.4(TMEM108):c.440C>T (p.Pro147Leu)	LOC101927432, TMEM108 (P147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344450	NM_023943.4(TMEM108):c.455G>A (p.Arg152His)	LOC101927432, TMEM108 (R152H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339450	NM_023943.4(TMEM108):c.710C>A (p.Pro237His)	LOC101927432, TMEM108 (P237H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320713	NM_023943.4(TMEM108):c.85A>G (p.Ile29Val)	LOC101927432, TMEM108 (I29V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2291452	NM_023943.4(TMEM108):c.1309G>A (p.Gly437Arg)	LOC101927432, TMEM108 (G437R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279234	NM_023943.4(TMEM108):c.470C>A (p.Pro157His)	LOC101927432, TMEM108 (P157H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260968	NM_023943.4(TMEM108):c.797C>T (p.Pro266Leu)	LOC101927432, TMEM108 (P266L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241725	NM_023943.4(TMEM108):c.1198G>A (p.Ala400Thr)	LOC101927432, TMEM108 (A400T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226181	NM_023943.4(TMEM108):c.563G>A (p.Gly188Asp)	LOC101927432, TMEM108 (G188D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223561	NM_023943.4(TMEM108):c.1028G>A (p.Ser343Asn)	LOC101927432, TMEM108 (S343N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 773138	NM_023943.4(TMEM108):c.441G>A (p.Pro147=)	LOC101927432, TMEM108	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 729073	NM_023943.4(TMEM108):c.741A>G (p.Ser247=)	LOC101927432, TMEM108	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 226154	GRCh37/hg19 3q22.1(chr3:133034333-133089757)	TMEM108	Copy number gain	Abnormal esophagus morphology	GUncertain significance

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Links from Gene

Items: 39