13804[HGNC] - ClinVar

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Items: 42

	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 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	ADCYAP1R1, AVL9 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 149526	GRCh38/hg38 7p14.3(chr7:31095071-31830903)x3	ADCYAP1R1, ITPRID1 +11 more	Copy number gain	See cases	GLikely benign
Select item 3195455	NM_022728.4(NEUROD6):c.977C>A (p.Thr326Lys)	NEUROD6 (T326K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328160	NM_022728.4(NEUROD6):c.949G>A (p.Asp317Asn)	NEUROD6 (D317N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195448	NM_022728.4(NEUROD6):c.931G>A (p.Asp311Asn)	NEUROD6 (D311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238451	NM_022728.4(NEUROD6):c.915G>C (p.Met305Ile)	NEUROD6 (M305I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299386	NM_022728.4(NEUROD6):c.910G>T (p.Ala304Ser)	NEUROD6 (A304S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299385	NM_022728.4(NEUROD6):c.907G>A (p.Gly303Ser)	NEUROD6 (G303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195442	NM_022728.4(NEUROD6):c.892G>A (p.Gly298Ser)	NEUROD6 (G298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299384	NM_022728.4(NEUROD6):c.833C>G (p.Thr278Ser)	NEUROD6 (T278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530970	NM_022728.4(NEUROD6):c.674T>C (p.Leu225Pro)	NEUROD6 (L225P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219208	NM_022728.4(NEUROD6):c.626C>A (p.Pro209Gln)	NEUROD6 (P209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592839	NM_022728.4(NEUROD6):c.560G>A (p.Ser187Asn)	NEUROD6 (S187N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454444	NM_022728.4(NEUROD6):c.484G>A (p.Val162Ile)	NEUROD6 (V162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229044	NM_022728.4(NEUROD6):c.251C>T (p.Thr84Ile)	NEUROD6 (T84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195420	NM_022728.4(NEUROD6):c.196G>C (p.Glu66Gln)	NEUROD6 (E66Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612184	NM_022728.4(NEUROD6):c.179A>C (p.Glu60Ala)	NEUROD6 (E60A)	Single nucleotide variant (missense variant)	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 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 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 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 563378	GRCh37/hg19 7p14.3(chr7:31039091-31858169)x1	ADCYAP1R1, PPP1R17 +3 more	Copy number loss	not provided	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 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: 42