11185[Gene ID] - ClinVar

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Items: 67

	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 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 150592	GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3	ADCYAP1R1, AQP1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 3109737	NM_006774.5(INMT):c.7G>A (p.Gly3Ser)	INMT, INMT-MINDY4 (G3S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2337804	NM_006774.5(INMT):c.98C>A (p.Pro33His)	INMT, INMT-MINDY4 (P33H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2351365	NM_006774.5(INMT):c.106G>A (p.Glu36Lys)	INMT, INMT-MINDY4 (E36K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3109732	NM_006774.5(INMT):c.127G>A (p.Glu43Lys)	INMT, INMT-MINDY4 (E43K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3286037	NM_006774.5(INMT):c.143C>T (p.Thr48Ile)	INMT, INMT-MINDY4 (T48I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2557535	NM_006774.5(INMT):c.230C>T (p.Ser77Phe)	INMT, INMT-MINDY4 (S76F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 729936	NM_006774.5(INMT):c.252C>T (p.Ser84=)	INMT, INMT-MINDY4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2368477	NM_006774.5(INMT):c.262G>A (p.Asp88Asn)	INMT, INMT-MINDY4 (D87N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2611167	NM_006774.5(INMT):c.274G>A (p.Glu92Lys)	INMT, INMT-MINDY4 (E91K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2616120	NM_006774.5(INMT):c.304C>A (p.Pro102Thr)	INMT, INMT-MINDY4 (P101T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 722841	NM_006774.5(INMT):c.339C>T (p.Phe113=)	INMT-MINDY4, INMT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 783491	NM_006774.5(INMT):c.340G>A (p.Ala114Thr)	INMT, INMT-MINDY4 (A114T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 727581	NM_006774.5(INMT):c.363-7T>A	INMT, INMT-MINDY4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2407343	NM_006774.5(INMT):c.363C>A (p.Ser121Arg)	INMT, INMT-MINDY4 (S120R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720371	NM_006774.5(INMT):c.367C>T (p.Arg123Ter)	INMT, INMT-MINDY4 (R122* +1 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2376078	NM_006774.5(INMT):c.370T>C (p.Trp124Arg)	INMT, INMT-MINDY4 (W123R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323025	NM_006774.5(INMT):c.400G>A (p.Ala134Thr)	INMT, INMT-MINDY4 (A133T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522456	NM_006774.5(INMT):c.409C>T (p.Arg137Trp)	INMT, INMT-MINDY4 (R137W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109733	NM_006774.5(INMT):c.421T>C (p.Cys141Arg)	INMT, INMT-MINDY4 (C140R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784108	NM_006774.5(INMT):c.435G>A (p.Leu145=)	INMT, INMT-MINDY4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3109734	NM_006774.5(INMT):c.502T>C (p.Cys168Arg)	INMT, INMT-MINDY4 (C167R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460640	NM_006774.5(INMT):c.530G>A (p.Arg177His)	INMT, INMT-MINDY4 (R176H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776214	NM_006774.5(INMT):c.567G>A (p.Pro189=)	INMT, INMT-MINDY4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3109735	NM_006774.5(INMT):c.572G>A (p.Gly191Asp)	INMT, INMT-MINDY4 (G191D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109736	NM_006774.5(INMT):c.598C>T (p.Arg200Trp)	INMT, INMT-MINDY4 (R199W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357285	NM_006774.5(INMT):c.605C>T (p.Pro202Leu)	INMT, INMT-MINDY4 (P201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268799	NM_006774.5(INMT):c.624G>C (p.Lys208Asn)	INMT, INMT-MINDY4 (K207N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161650	NM_006774.5(INMT):c.625C>T (p.Arg209Cys)	INMT, INMT-MINDY4 (R209C +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2322348	NM_006774.5(INMT):c.657G>T (p.Glu219Asp)	INMT-MINDY4, INMT (E219D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311692	NM_006774.5(INMT):c.720G>C (p.Gln240His)	INMT, INMT-MINDY4 (Q239H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286036	NM_006774.5(INMT):c.746A>G (p.Asn249Ser)	INMT, INMT-MINDY4 (N248S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596286	NM_006774.5(INMT):c.772C>G (p.Arg258Gly)	INMT, INMT-MINDY4 (R257G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377716	NM_006774.5(INMT):c.773G>T (p.Arg258Leu)	INMT, INMT-MINDY4 (R257L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402980	NM_006774.5(INMT):c.791G>C (p.Ter264Ser)	INMT, INMT-MINDY4	Single nucleotide variant (stop lost)	not specified	GBenign
Select item 3245829	NC_000007.13:g.(?_30054351)_(30963244_?)del	AQP1, CRHR2 +9 more	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062970	GRCh37/hg19 7p14.3(chr7:30655068-31166676)x3	ADCYAP1R1, AQP1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1809067	GRCh37/hg19 7p14.3(chr7:30567050-31415774)x3	ADCYAP1R1, AQP1 +6 more	Copy number gain	not provided	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 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1680631	NC_000007.13:g.(?_30655492)_(31018859_?)dup	AQP1, CRHR2 +4 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1401428	NC_000007.13:g.(?_30054351)_(31018859_?)dup	AQP1, CRHR2 +10 more	Duplication	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	GUncertain significance
Select item 979761	GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3	GHRHR, GGCT +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 814952	GRCh37/hg19 7p14.3(chr7:30502942-30888964)x1	GARS1, CRHR2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 814949	GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	GHRHR, INMT +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
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 687359	GRCh37/hg19 7p14.3(chr7:30688444-30814670)x1	CRHR2, INMT +1 more	Copy number loss	not provided	GUncertain significance
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 393728	GRCh37/hg19 7p14.3(chr7:30673441-31154672)x3	ADCYAP1R1, AQP1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 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: 67