TMEM168[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 545340	Single allele	DOCK4, DOCK4-AS1 +29 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 58927	GRCh38/hg38 7q31.1(chr7:112216116-112945352)x1	BMT2, IFRD1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 3326843	NM_022484.6(TMEM168):c.2053G>A (p.Val685Met)	TMEM168 (V685M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601401	NM_022484.6(TMEM168):c.1844T>A (p.Val615Glu)	TMEM168 (V615E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232311	NM_022484.6(TMEM168):c.1730T>C (p.Ile577Thr)	TMEM168 (I577T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178945	NM_022484.6(TMEM168):c.1666G>A (p.Val556Met)	TMEM168 (V556M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512256	NM_022484.6(TMEM168):c.1649C>G (p.Thr550Ser)	TMEM168 (T550S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178943	NM_022484.6(TMEM168):c.1595A>C (p.Lys532Thr)	TMEM168 (K532T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268448	NM_022484.6(TMEM168):c.1576A>G (p.Ile526Val)	TMEM168 (I526V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405807	NM_022484.6(TMEM168):c.1561C>T (p.Arg521Cys)	TMEM168 (R521C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178942	NM_022484.6(TMEM168):c.1513C>A (p.His505Asn)	TMEM168 (H505N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178941	NM_022484.6(TMEM168):c.1478C>T (p.Pro493Leu)	TMEM168 (P493L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549732	NM_022484.6(TMEM168):c.1469T>C (p.Val490Ala)	TMEM168 (V490A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523655	NM_022484.6(TMEM168):c.1463G>A (p.Arg488Gln)	TMEM168 (R488Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508086	NM_022484.6(TMEM168):c.1433A>C (p.His478Pro)	TMEM168 (H478P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288006	NM_022484.6(TMEM168):c.1370A>G (p.Tyr457Cys)	TMEM168 (Y457C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178939	NM_022484.6(TMEM168):c.1304A>C (p.Glu435Ala)	TMEM168 (E435A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250429	NM_022484.6(TMEM168):c.1190A>T (p.His397Leu)	TMEM168 (H397L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178938	NM_022484.6(TMEM168):c.1180T>A (p.Ser394Thr)	TMEM168 (S394T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602809	NM_022484.6(TMEM168):c.1133C>A (p.Thr378Lys)	TMEM168 (T378K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491295	NM_022484.6(TMEM168):c.1132A>G (p.Thr378Ala)	TMEM168 (T378A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607132	NM_022484.6(TMEM168):c.1086T>G (p.Phe362Leu)	TMEM168 (F362L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178948	NM_022484.6(TMEM168):c.928A>T (p.Ile310Phe)	TMEM168 (I310F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255403	NM_022484.6(TMEM168):c.862A>T (p.Thr288Ser)	TMEM168 (T288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268722	NM_022484.6(TMEM168):c.806T>C (p.Phe269Ser)	TMEM168 (F269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403053	NM_022484.6(TMEM168):c.730A>C (p.Ser244Arg)	TMEM168 (S244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178947	NM_022484.6(TMEM168):c.652G>C (p.Glu218Gln)	TMEM168 (E218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536265	NM_022484.6(TMEM168):c.633G>T (p.Leu211Phe)	TMEM168 (L211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548386	NM_022484.6(TMEM168):c.584G>T (p.Arg195Ile)	TMEM168 (R195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233132	NM_022484.6(TMEM168):c.560T>A (p.Leu187Gln)	TMEM168 (L187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259897	NM_022484.6(TMEM168):c.517T>G (p.Leu173Val)	TMEM168 (L173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520500	NM_022484.6(TMEM168):c.449G>A (p.Arg150Gln)	TMEM168 (R150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361083	NM_022484.6(TMEM168):c.334T>G (p.Ser112Ala)	TMEM168 (S112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473281	NM_022484.6(TMEM168):c.259A>G (p.Met87Val)	TMEM168 (M87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178946	NM_022484.6(TMEM168):c.226G>C (p.Gly76Arg)	TMEM168 (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178944	NM_022484.6(TMEM168):c.160G>A (p.Val54Ile)	TMEM168 (V54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269521	NM_022484.6(TMEM168):c.128A>G (p.Asn43Ser)	TMEM168 (N43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374354	NM_022484.6(TMEM168):c.113A>G (p.Tyr38Cys)	TMEM168 (Y38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405426	NM_022484.6(TMEM168):c.101G>A (p.Arg34Gln)	TMEM168 (R34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769730	NM_022484.6(TMEM168):c.67G>A (p.Val23Ile)	TMEM168 (V23I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2261304	NM_022484.6(TMEM168):c.49A>G (p.Met17Val)	TMEM168 (M17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062952	GRCh37/hg19 7q31.1(chr7:111340222-113515460)x3	BMT2, DOCK4 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1340162	GRCh37/hg19 7q31.1(chr7:111609961-113375421)x3	BMT2, DOCK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815023	GRCh37/hg19 7q31.1(chr7:112388381-112475462)x1	TMEM168, BMT2	Copy number loss	not provided	GUncertain significance
Select item 815018	GRCh37/hg19 7q31.1(chr7:109594999-113885203)x3	LSMEM1, BMT2 +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 689016	GRCh37/hg19 7q31.1(chr7:109939104-113649529)x1	BMT2, DOCK4 +8 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686552	GRCh37/hg19 7q31.1(chr7:112129234-112603987)x3	BMT2, LSMEM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 more	Copy number loss	not provided	GPathogenic
Select item 635931	Single allele	BMT2, DOCK4 +7 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563290	GRCh37/hg19 7q31.1(chr7:112353439-112439104)x1	TMEM168	Copy number loss	not provided	GUncertain significance
Select item 443343	GRCh37/hg19 7q31.1(chr7:110322161-112423237)x3	DOCK4, IFRD1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441861	GRCh37/hg19 7q31.1-31.2(chr7:111642645-115770275)x1	BMT2, DOCK4 +9 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 69