C7orf57[gene] - ClinVar

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Items: 22

	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 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 59595	GRCh38/hg38 7p12.3(chr7:47843159-48156272)x3	C7orf57, HUS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 152777	GRCh38/hg38 7p12.3(chr7:48012022-48129375)x3	C7orf57, LOC126860025 +5 more	Copy number gain	See cases	GUncertain significance
Select item 2359435	NM_001100159.3(C7orf57):c.157G>A (p.Glu53Lys)	C7orf57 (E53K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214748	NM_001100159.3(C7orf57):c.345G>T (p.Gln115His)	C7orf57 (Q115H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352362	NM_001100159.3(C7orf57):c.705C>A (p.Asp235Glu)	C7orf57 (D235E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255810	NM_001100159.3(C7orf57):c.713C>T (p.Thr238Ile)	C7orf57 (T238I +1 more)	Single nucleotide variant (missense variant)	not specified	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 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: 22