21915[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 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 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 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 3105480	NM_022373.5(HERPUD2):c.1120A>G (p.Ser374Gly)	HERPUD2 (S374G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531841	NM_022373.5(HERPUD2):c.1063C>T (p.Arg355Cys)	HERPUD2 (R355C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284473	NM_022373.5(HERPUD2):c.989A>G (p.Gln330Arg)	HERPUD2 (Q330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258478	NM_022373.5(HERPUD2):c.910A>G (p.Met304Val)	HERPUD2 (M304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512463	NM_022373.5(HERPUD2):c.860C>T (p.Ala287Val)	HERPUD2 (A287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284124	NM_022373.5(HERPUD2):c.820C>G (p.Arg274Gly)	HERPUD2 (R274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105487	NM_022373.5(HERPUD2):c.802A>G (p.Asn268Asp)	HERPUD2 (N268D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262359	NM_022373.5(HERPUD2):c.682C>A (p.Pro228Thr)	HERPUD2 (P228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294308	NM_022373.5(HERPUD2):c.623C>G (p.Ala208Gly)	HERPUD2 (A208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284125	NM_022373.5(HERPUD2):c.563C>T (p.Pro188Leu)	HERPUD2 (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530933	NM_022373.5(HERPUD2):c.553G>A (p.Ala185Thr)	HERPUD2 (A185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279346	NM_022373.5(HERPUD2):c.475T>C (p.Phe159Leu)	HERPUD2 (F159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325064	NM_022373.5(HERPUD2):c.430C>T (p.Arg144Cys)	HERPUD2 (R144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105486	NM_022373.5(HERPUD2):c.428A>G (p.Gln143Arg)	HERPUD2 (Q143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105485	NM_022373.5(HERPUD2):c.323C>G (p.Ala108Gly)	HERPUD2 (A108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384916	NM_022373.5(HERPUD2):c.301A>G (p.Arg101Gly)	HERPUD2 (R101G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616609	NM_022373.5(HERPUD2):c.295A>C (p.Thr99Pro)	HERPUD2 (T99P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105483	NM_022373.5(HERPUD2):c.271C>T (p.Pro91Ser)	HERPUD2 (P91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105482	NM_022373.5(HERPUD2):c.193G>A (p.Asp65Asn)	HERPUD2 (D65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105481	NM_022373.5(HERPUD2):c.116C>T (p.Thr39Met)	HERPUD2 (T39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623078	NM_022373.5(HERPUD2):c.20A>C (p.Glu7Ala)	HERPUD2 (E7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603554	NM_022373.5(HERPUD2):c.17T>C (p.Met6Thr)	HERPUD2 (M6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355061	NM_022373.5(HERPUD2):c.16A>T (p.Met6Leu)	HERPUD2 (M6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
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 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
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 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	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 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