ClinVar for Gene (Select 79017) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281300	NM_024051.4(GGCT):c.67G>A (p.Gly23Ser)	GGCT (G23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281299	NM_024051.4(GGCT):c.467A>G (p.Tyr156Cys)	GGCT (I111V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3099590	NM_024051.4(GGCT):c.392A>G (p.Glu131Gly)	GGCT (E131G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099589	NM_024051.4(GGCT):c.11C>G (p.Ser4Trp)	GGCT (S4W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099588	NM_024051.4(GGCT):c.104A>G (p.Asn35Ser)	GGCT (N35S)	Single nucleotide variant (missense variant +1 more)	not specified	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 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 2475110	NM_024051.4(GGCT):c.95A>C (p.His32Pro)	GGCT (H32P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386451	NM_024051.4(GGCT):c.224C>T (p.Pro75Leu)	GGCT (P75L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337128	NM_024051.4(GGCT):c.499G>A (p.Asp167Asn)	GGCT (D167N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2268899	NM_024051.4(GGCT):c.127G>A (p.Val43Met)	GGCT (V43M)	Single nucleotide variant (missense variant +1 more)	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 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 1527346	GRCh37/hg19 7p14.3(chr7:30404217-30782235)	CRHR2, GARS1 +3 more	Copy number gain	not specified	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 814951	GRCh37/hg19 7p14.3(chr7:30463886-30674061)x3	GGCT, NOD1 +1 more	Copy number gain	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 756065	NM_024051.4(GGCT):c.9C>T (p.Asn3=)	GGCT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 711870	NM_024051.4(GGCT):c.459G>A (p.Pro153=)	GGCT (R108H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 635940	NC_000007.13:g.30439214_30632407dup	GGCT, NOD1	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
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 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
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 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 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 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

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Links from Gene

Items: 43