ClinVar for Gene (Select 23080) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333983	NM_015060.3(AVL9):c.112C>G (p.Pro38Ala)	AVL9 (P38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333972	NM_015060.3(AVL9):c.1737C>A (p.Phe579Leu)	AVL9 (F579L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333961	NM_015060.3(AVL9):c.977C>T (p.Ser326Phe)	AVL9 (S326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333951	NM_015060.3(AVL9):c.17G>T (p.Arg6Ile)	AVL9 (R6I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132415	NM_015060.3(AVL9):c.985A>T (p.Ser329Cys)	AVL9 (S329C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132414	NM_015060.3(AVL9):c.929A>G (p.Asn310Ser)	AVL9 (N310S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132413	NM_015060.3(AVL9):c.725G>A (p.Arg242Gln)	AVL9 (R242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132412	NM_015060.3(AVL9):c.607A>G (p.Lys203Glu)	AVL9 (K203E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132411	NM_015060.3(AVL9):c.43C>G (p.Pro15Ala)	AVL9 (P15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132410	NM_015060.3(AVL9):c.416A>G (p.His139Arg)	AVL9 (H139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132409	NM_015060.3(AVL9):c.35C>A (p.Pro12His)	AVL9 (P12H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132408	NM_015060.3(AVL9):c.1921A>C (p.Thr641Pro)	AVL9 (T623P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132407	NM_015060.3(AVL9):c.1844G>C (p.Gly615Ala)	AVL9 (G597A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132406	NM_015060.3(AVL9):c.1754A>C (p.Asn585Thr)	AVL9 (N585T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622011	NM_015060.3(AVL9):c.1581G>T (p.Lys527Asn)	AVL9 (K527N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614787	NM_015060.3(AVL9):c.281A>T (p.Tyr94Phe)	AVL9 (Y94F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613138	NM_015060.3(AVL9):c.1079A>G (p.Lys360Arg)	AVL9 (K360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588500	NM_015060.3(AVL9):c.1238T>C (p.Met413Thr)	AVL9 (M413T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588212	NM_015060.3(AVL9):c.83A>G (p.Lys28Arg)	AVL9 (K28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555950	NM_015060.3(AVL9):c.1802G>A (p.Arg601Gln)	AVL9 (R583Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546403	NM_015060.3(AVL9):c.829A>G (p.Ile277Val)	AVL9 (I277V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540640	NM_015060.3(AVL9):c.1476C>G (p.Phe492Leu)	AVL9 (F492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487356	NM_015060.3(AVL9):c.761G>T (p.Ser254Ile)	AVL9 (S254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475676	NM_015060.3(AVL9):c.149T>C (p.Leu50Ser)	AVL9 (L50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400338	NM_015060.3(AVL9):c.493G>A (p.Gly165Arg)	AVL9 (G165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363564	NM_015060.3(AVL9):c.1273A>G (p.Thr425Ala)	AVL9 (T425A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356623	NM_015060.3(AVL9):c.1358A>C (p.Glu453Ala)	AVL9 (E453A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341109	NM_015060.3(AVL9):c.1471G>A (p.Val491Ile)	AVL9 (V491I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339913	NM_015060.3(AVL9):c.374C>G (p.Pro125Arg)	AVL9 (P125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321176	NM_015060.3(AVL9):c.560T>G (p.Phe187Cys)	AVL9 (F187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312240	NM_015060.3(AVL9):c.1445G>A (p.Arg482Lys)	AVL9 (R482K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271637	NM_015060.3(AVL9):c.809C>T (p.Ser270Leu)	AVL9 (S270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259117	NM_015060.3(AVL9):c.1060C>A (p.Gln354Lys)	AVL9 (Q354K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254912	NM_015060.3(AVL9):c.1681A>G (p.Asn561Asp)	AVL9 (N561D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251864	NM_015060.3(AVL9):c.1837T>C (p.Ser613Pro)	AVL9 (S595P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248339	NM_015060.3(AVL9):c.1673C>T (p.Ala558Val)	AVL9 (A558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245438	NM_015060.3(AVL9):c.314G>A (p.Arg105Lys)	AVL9 (R105K)	Single nucleotide variant (missense variant)	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 1808293	GRCh37/hg19 7p14.3(chr7:32135921-32690094)x3	AVL9, LSM5 +1 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 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 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 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 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	ADCYAP1R1, AVL9 +54 more	Copy number loss	See cases	GLikely pathogenic
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

ClinVar

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Links from Gene

Items: 59