14035[HGNC] - 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 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	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 59681	GRCh38/hg38 7p14.1-13(chr7:42388724-43606751)x3	C7orf25, HECW1 +27 more	Copy number gain	See cases	GPathogenic
Select item 150967	GRCh38/hg38 7p14.1-13(chr7:42452844-43608265)x3	C7orf25, HECW1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 2597995	NM_031903.3(MRPL32):c.41C>T (p.Ser14Phe)	LOC129998311, MRPL32 (S14F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296007	NM_031903.3(MRPL32):c.44C>G (p.Ala15Gly)	LOC129998311, MRPL32 (A15G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552179	NM_031903.3(MRPL32):c.53G>A (p.Gly18Glu)	LOC129998311, MRPL32 (G18E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207456	NM_031903.3(MRPL32):c.68A>G (p.Tyr23Cys)	LOC129998311, MRPL32 (Y23C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3207460	NM_031903.3(MRPL32):c.74A>G (p.Glu25Gly)	LOC129998311, MRPL32 (E25G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331294	NM_031903.3(MRPL32):c.122C>T (p.Pro41Leu)	LOC129998311, MRPL32 (P41L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384303	NM_031903.3(MRPL32):c.151G>A (p.Gly51Ser)	MRPL32 (G51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367568	NM_031903.3(MRPL32):c.187A>C (p.Ser63Arg)	MRPL32 (S63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207423	NM_031903.3(MRPL32):c.209G>T (p.Ser70Ile)	MRPL32 (S70I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296005	NM_031903.3(MRPL32):c.254G>A (p.Arg85His)	MRPL32 (R85H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239659	NM_031903.3(MRPL32):c.271C>T (p.Arg91Trp)	MRPL32 (R91W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296006	NM_031903.3(MRPL32):c.275G>A (p.Cys92Tyr)	MRPL32 (C92Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287736	NM_031903.3(MRPL32):c.328T>C (p.Cys110Arg)	MRPL32 (C110R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338831	NM_031903.3(MRPL32):c.377G>A (p.Cys126Tyr)	MRPL32 (C126Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296008	NM_031903.3(MRPL32):c.443C>A (p.Pro148His)	MRPL32 (P148H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207446	NM_031903.3(MRPL32):c.461T>C (p.Ile154Thr)	MRPL32 (I154T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296009	NM_031903.3(MRPL32):c.470T>C (p.Val157Ala)	MRPL32 (V157A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210622	NM_031903.3(MRPL32):c.494C>T (p.Pro165Leu)	MRPL32 (P165L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 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 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 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 688390	GRCh37/hg19 7p14.1(chr7:40198215-43252984)x3	C7orf25, GLI3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687609	GRCh37/hg19 7p14.1-13(chr7:42417642-43658492)x3	C7orf25, HECW1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687554	GRCh37/hg19 7p14.1-13(chr7:42417642-43658492)x3	C7orf25, HECW1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687540	GRCh37/hg19 7p14.1-13(chr7:42421780-43664397)x3	C7orf25, HECW1 +4 more	Copy number gain	not provided	GUncertain significance
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 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ZMIZ2, ADCY1 +41 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: 46