SPMIP7[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	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 3235618	NM_001161834.3(SPMIP7):c.50G>A (p.Arg17Lys)	SPMIP7 (R17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235619	NM_001161834.3(SPMIP7):c.587A>C (p.Gln196Pro)	SPMIP7 (Q196P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235620	NM_001161834.3(SPMIP7):c.848G>A (p.Gly283Glu)	SPMIP7 (G283E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235616	NM_001161834.3(SPMIP7):c.1037C>T (p.Ser346Leu)	SPMIP7 (S346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235617	NM_001161834.3(SPMIP7):c.1067T>C (p.Leu356Pro)	SPMIP7 (L356P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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