22310[HGNC] - ClinVar

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

Search results

Items: 36

	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 152714	GRCh38/hg38 7p14.3(chr7:29030620-29796236)x1	CHN2, CHN2-AS1 +13 more	Copy number loss	See cases	GUncertain significance
Select item 2520074	NM_175887.3(PRR15):c.7G>A (p.Asp3Asn)	PRR15 (D3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219360	NM_175887.3(PRR15):c.16G>A (p.Asp6Asn)	PRR15 (D6N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223838	NM_175887.3(PRR15):c.89G>A (p.Gly30Glu)	PRR15 (G30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568695	NM_175887.3(PRR15):c.91G>T (p.Val31Leu)	PRR15 (V31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259959	NM_175887.3(PRR15):c.113C>A (p.Ala38Asp)	PRR15 (A38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219359	NM_175887.3(PRR15):c.149C>T (p.Pro50Leu)	PRR15 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594874	NM_175887.3(PRR15):c.196G>C (p.Gly66Arg)	PRR15 (G66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592595	NM_175887.3(PRR15):c.215C>G (p.Pro72Arg)	PRR15 (P72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478378	NM_175887.3(PRR15):c.286C>T (p.Arg96Cys)	PRR15 (R96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548139	NM_175887.3(PRR15):c.313G>C (p.Ala105Pro)	PRR15 (A105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219361	NM_175887.3(PRR15):c.374A>G (p.His125Arg)	PRR15 (H125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273678	NM_175887.3(PRR15):c.375C>G (p.His125Gln)	PRR15 (H125Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36