375567[Gene ID] - ClinVar

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Items: 46

	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 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 145608	GRCh38/hg38 7p12.2(chr7:49669048-50360016)x3	IKZF1, LOC106783492 +26 more	Copy number gain	See cases	GLikely benign
Select item 3189370	NM_198570.5(VWC2):c.26T>G (p.Val9Gly)	VWC2 (V9G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332493	NM_198570.5(VWC2):c.41G>A (p.Ser14Asn)	VWC2 (S14N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255927	NM_198570.5(VWC2):c.150C>A (p.His50Gln)	VWC2 (H50Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189369	NM_198570.5(VWC2):c.163G>T (p.Gly55Cys)	VWC2 (G55C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332492	NM_198570.5(VWC2):c.167C>A (p.Pro56Gln)	VWC2 (P56Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248623	NM_198570.5(VWC2):c.197C>A (p.Ala66Glu)	VWC2 (A66E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332488	NM_198570.5(VWC2):c.205G>A (p.Glu69Lys)	VWC2 (E69K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253268	NM_198570.5(VWC2):c.205G>C (p.Glu69Gln)	VWC2 (E69Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470464	NM_198570.5(VWC2):c.218G>C (p.Gly73Ala)	VWC2 (G73A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608384	NM_198570.5(VWC2):c.273C>A (p.Ser91Arg)	VWC2 (S91R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332489	NM_198570.5(VWC2):c.305G>T (p.Gly102Val)	VWC2 (G102V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189371	NM_198570.5(VWC2):c.310G>A (p.Ala104Thr)	VWC2 (A104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224495	NM_198570.5(VWC2):c.319G>A (p.Gly107Arg)	VWC2 (G107R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410832	NM_198570.5(VWC2):c.350C>T (p.Thr117Ile)	VWC2 (T117I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351067	NM_198570.5(VWC2):c.383A>G (p.Gln128Arg)	VWC2 (Q128R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332490	NM_198570.5(VWC2):c.386A>T (p.Asp129Val)	VWC2 (D129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189372	NM_198570.5(VWC2):c.410C>G (p.Pro137Arg)	VWC2 (P137R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495871	NM_198570.5(VWC2):c.578C>A (p.Pro193Gln)	VWC2 (P193Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335792	NM_198570.5(VWC2):c.595T>A (p.Cys199Ser)	VWC2 (C199S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189373	NM_198570.5(VWC2):c.619T>G (p.Cys207Gly)	VWC2 (C207G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189374	NM_198570.5(VWC2):c.656A>G (p.Glu219Gly)	VWC2 (E219G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464458	NM_198570.5(VWC2):c.665G>A (p.Gly222Asp)	VWC2 (G222D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512065	NM_198570.5(VWC2):c.680C>T (p.Thr227Ile)	VWC2 (T227I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493520	NM_198570.5(VWC2):c.691T>C (p.Phe231Leu)	VWC2 (F231L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189375	NM_198570.5(VWC2):c.697G>A (p.Val233Met)	VWC2 (V233M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591659	NM_198570.5(VWC2):c.850G>A (p.Ala284Thr)	VWC2, ZPBP (A284T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397456	NM_198570.5(VWC2):c.938G>A (p.Arg313Gln)	VWC2, ZPBP (R313Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062994	GRCh37/hg19 7p12.2(chr7:49556496-49913810)x3	VWC2	Copy number gain	not specified	GUncertain significance
Select item 1809479	GRCh37/hg19 7p12.2(chr7:49754603-49850336)x1	VWC2	Copy number loss	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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	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 443484	GRCh37/hg19 7p12.2(chr7:49696109-50457187)x3	IKZF1, SPMIP7 +2 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 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 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: 46