54504[Gene ID] - ClinVar

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Items: 64

	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 3076952	NM_031311.5(CPVL):c.1423G>T (p.Val475Phe)	CPVL, CPVL-AS2 (V489F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733777	NM_031311.5(CPVL):c.1391G>A (p.Arg464Gln)	CPVL, CPVL-AS2 (R286Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2594517	NM_031311.5(CPVL):c.1259A>C (p.Lys420Thr)	CPVL (K420T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462599	NM_031311.5(CPVL):c.1246A>G (p.Lys416Glu)	CPVL (K430E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076951	NM_031311.5(CPVL):c.1217A>G (p.Lys406Arg)	CPVL (K336R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076950	NM_031311.5(CPVL):c.1171G>A (p.Val391Met)	CPVL (V213M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269300	NM_031311.5(CPVL):c.1162G>A (p.Asp388Asn)	CPVL (D318N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258068	NM_031311.5(CPVL):c.1111T>G (p.Leu371Val)	CPVL (L301V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615297	NM_031311.5(CPVL):c.1087A>G (p.Thr363Ala)	CPVL (T293A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482695	NM_031311.5(CPVL):c.1063G>C (p.Val355Leu)	CPVL (V285L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602334	NM_031311.5(CPVL):c.967C>T (p.Pro323Ser)	CPVL (P337S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076959	NM_031311.5(CPVL):c.937A>C (p.Asn313His)	CPVL (N243H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076957	NM_031311.5(CPVL):c.701C>T (p.Ala234Val)	CPVL (A248V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622375	NM_031311.5(CPVL):c.607G>C (p.Glu203Gln)	CPVL (E133Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076956	NM_031311.5(CPVL):c.512A>C (p.Asn171Thr)	CPVL (N101T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464698	NM_031311.5(CPVL):c.499G>A (p.Gly167Arg)	CPVL (G107R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598389	NM_031311.5(CPVL):c.444G>A (p.Met148Ile)	CPVL (M148I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407369	NM_031311.5(CPVL):c.407G>A (p.Arg136His)	CPVL (R136H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267377	NM_031311.5(CPVL):c.399G>C (p.Met133Ile)	CPVL (M133I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076955	NM_031311.5(CPVL):c.335C>T (p.Pro112Leu)	CPVL (P112L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250279	NM_031311.5(CPVL):c.302A>T (p.Asp101Val)	CPVL (D101V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454564	NM_031311.5(CPVL):c.226G>A (p.Gly76Ser)	CPVL (G6S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076954	NM_031311.5(CPVL):c.197T>C (p.Phe66Ser)	CPVL (F66S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076953	NM_031311.5(CPVL):c.146T>C (p.Ile49Thr)	CPVL (I49T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076958	NM_031311.5(CPVL):c.85A>G (p.Arg29Gly)	CPVL (R29G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325627	NM_031311.5(CPVL):c.56C>T (p.Pro19Leu)	CPVL (P19L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540905	NM_031311.5(CPVL):c.35T>C (p.Leu12Pro)	CPVL (L12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620639	NM_031311.5(CPVL):c.19A>C (p.Lys7Gln)	CPVL (K7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713575	NM_031311.5(CPVL):c.14T>C (p.Met5Thr)	CPVL (M5T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2250085	NM_031311.5(CPVL):c.8G>A (p.Gly3Asp)	CPVL (G3D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040110	NM_001398427.1(CHN2):c.-646G>A	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GBenign
Select item 3029181	NM_001398427.1(CHN2):c.-601C>T	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 3035343	NM_001398427.1(CHN2):c.-511T>G	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GBenign
Select item 3039915	NM_001398427.1(CHN2):c.-501-8C>T	CHN2, CPVL	Single nucleotide variant (intron variant)	CHN2-related disorder	GBenign
Select item 3051277	NM_001398427.1(CHN2):c.-442T>C	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 3041465	NM_004067.4(CHN2):c.-6G>A	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 2553513	NM_004067.4(CHN2):c.17A>C (p.Asn6Thr)	CHN2, CPVL (N6T)	Single nucleotide variant (missense variant +2 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 2685042	GRCh37/hg19 7p14.3(chr7:28871712-29219094)x4	CPVL, TRIL	Copy number gain	not provided	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 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 443816	GRCh37/hg19 7p15.2-14.3(chr7:27720090-29219094)x3	CPVL, CREB5 +3 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 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 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

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Items: 64