ClinVar for Gene (Select 64418) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2607132	NM_022484.6(TMEM168):c.1086T>G (p.Phe362Leu)	TMEM168 (F362L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602809	NM_022484.6(TMEM168):c.1133C>A (p.Thr378Lys)	TMEM168 (T378K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601401	NM_022484.6(TMEM168):c.1844T>A (p.Val615Glu)	TMEM168 (V615E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549732	NM_022484.6(TMEM168):c.1469T>C (p.Val490Ala)	TMEM168 (V490A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548386	NM_022484.6(TMEM168):c.584G>T (p.Arg195Ile)	TMEM168 (R195I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536265	NM_022484.6(TMEM168):c.633G>T (p.Leu211Phe)	TMEM168 (L211F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523655	NM_022484.6(TMEM168):c.1463G>A (p.Arg488Gln)	TMEM168 (R488Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520500	NM_022484.6(TMEM168):c.449G>A (p.Arg150Gln)	TMEM168 (R150Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512256	NM_022484.6(TMEM168):c.1649C>G (p.Thr550Ser)	TMEM168 (T550S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508086	NM_022484.6(TMEM168):c.1433A>C (p.His478Pro)	TMEM168 (H478P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491295	NM_022484.6(TMEM168):c.1132A>G (p.Thr378Ala)	TMEM168 (T378A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473281	NM_022484.6(TMEM168):c.259A>G (p.Met87Val)	TMEM168 (M87V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405807	NM_022484.6(TMEM168):c.1561C>T (p.Arg521Cys)	TMEM168 (R521C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405426	NM_022484.6(TMEM168):c.101G>A (p.Arg34Gln)	TMEM168 (R34Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403053	NM_022484.6(TMEM168):c.730A>C (p.Ser244Arg)	TMEM168 (S244R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374354	NM_022484.6(TMEM168):c.113A>G (p.Tyr38Cys)	TMEM168 (Y38C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361083	NM_022484.6(TMEM168):c.334T>G (p.Ser112Ala)	TMEM168 (S112A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288006	NM_022484.6(TMEM168):c.1370A>G (p.Tyr457Cys)	TMEM168 (Y457C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269521	NM_022484.6(TMEM168):c.128A>G (p.Asn43Ser)	TMEM168 (N43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268722	NM_022484.6(TMEM168):c.806T>C (p.Phe269Ser)	TMEM168 (F269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268448	NM_022484.6(TMEM168):c.1576A>G (p.Ile526Val)	TMEM168 (I526V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261304	NM_022484.6(TMEM168):c.49A>G (p.Met17Val)	TMEM168 (M17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259897	NM_022484.6(TMEM168):c.517T>G (p.Leu173Val)	TMEM168 (L173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255403	NM_022484.6(TMEM168):c.862A>T (p.Thr288Ser)	TMEM168 (T288S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250429	NM_022484.6(TMEM168):c.1190A>T (p.His397Leu)	TMEM168 (H397L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233132	NM_022484.6(TMEM168):c.560T>A (p.Leu187Gln)	TMEM168 (L187Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232311	NM_022484.6(TMEM168):c.1730T>C (p.Ile577Thr)	TMEM168 (I577T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 769730	NM_022484.6(TMEM168):c.67G>A (p.Val23Ile)	TMEM168 (V23I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 545340	Single allele	DOCK4, DOCK4-AS1 +29 more	Duplication	Schizophrenia	GLikely pathogenic
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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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
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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 58927	GRCh38/hg38 7q31.1(chr7:112216116-112945352)x1	BMT2, IFRD1 +16 more	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 58