TMEM108[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 57793	GRCh38/hg38 3q22.1(chr3:132662034-133263499)x3	LOC112903835, LOC112903836 +11 more	Copy number gain	See cases	GUncertain significance
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 773138	NM_023943.4(TMEM108):c.441G>A (p.Pro147=)	LOC101927432, TMEM108	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 3326647	NM_023943.4(TMEM108):c.473C>G (p.Pro158Arg)	LOC101927432, TMEM108 (P158R)	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 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 2226181	NM_023943.4(TMEM108):c.563G>A (p.Gly188Asp)	TMEM108, LOC101927432 (G188D)	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 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 729073	NM_023943.4(TMEM108):c.741A>G (p.Ser247=)	LOC101927432, TMEM108	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 3326650	NM_023943.4(TMEM108):c.860G>T (p.Gly287Val)	LOC101927432, TMEM108 (G287V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326646	NM_023943.4(TMEM108):c.860G>A (p.Gly287Asp)	LOC101927432, TMEM108 (G287D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326651	NM_023943.4(TMEM108):c.865T>A (p.Ser289Thr)	LOC101927432, TMEM108 (S289T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326648	NM_023943.4(TMEM108):c.974C>T (p.Pro325Leu)	LOC101927432, TMEM108 (P325L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326649	NM_023943.4(TMEM108):c.994A>G (p.Ser332Gly)	LOC101927432, TMEM108 (S332G)	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 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 3326644	NM_023943.4(TMEM108):c.1160C>A (p.Thr387Asn)	LOC101927432, TMEM108 (T387N)	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 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 3326645	NM_023943.4(TMEM108):c.1222C>G (p.Leu408Val)	LOC101927432, TMEM108 (L408V)	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 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 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 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 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 3326643	NM_023943.4(TMEM108):c.1408G>A (p.Ala470Thr)	LOC101927432, TMEM108 (A470T)	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 2462694	NM_023943.4(TMEM108):c.1495G>A (p.Ala499Thr)	TMEM108 (A29T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276980	NM_023943.4(TMEM108):c.1531A>G (p.Thr511Ala)	TMEM108 (T511A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521628	NM_023943.4(TMEM108):c.1698T>G (p.Phe566Leu)	TMEM108 (F96L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1807808	GRCh37/hg19 3q22.1(chr3:132355551-132993069)x3	ACAD11, NPHP3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1459503	NC_000003.11:g.(?_132379382)_(133191429_?)del	BFSP2, NPHP3 +2 more	Deletion	Nephronophthisis	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 980060	GRCh37/hg19 3q22.1(chr3:132355550-132988372)x3	ACAD11, NPHP3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 980058	GRCh37/hg19 3q22.1(chr3:132518775-133216149)x3	BFSP2, TMEM108	Copy number gain	not provided	GUncertain significance
Select item 562816	GRCh37/hg19 3q22.1(chr3:132664588-133123698)x1	BFSP2, TMEM108	Copy number loss	not provided	GUncertain significance
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 226154	GRCh37/hg19 3q22.1(chr3:133034333-133089757)	TMEM108	Copy number gain	Abnormal esophagus morphology	GUncertain significance

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Items: 72