SPMIP9[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 146363	GRCh38/hg38 2p11.2-11.1(chr2:87098178-91884275)x3	LOC122787150, LOC122787151 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148476	GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3	CYTOR, EIF2AK3 +101 more	Copy number gain	See cases	GUncertain significance
Select item 3235454	NM_152670.3(SPMIP9):c.49T>C (p.Tyr17His)	SPMIP9 (Y17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399821	NM_152670.3(SPMIP9):c.113C>T (p.Pro38Leu)	SPMIP9 (P38L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322282	NM_152670.3(SPMIP9):c.150C>A (p.Asp50Glu)	SPMIP9 (D50E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375082	NM_152670.3(SPMIP9):c.175A>G (p.Asn59Asp)	SPMIP9 (N59D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264339	NM_152670.3(SPMIP9):c.200G>C (p.Gly67Ala)	SPMIP9 (G67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322283	NM_152670.3(SPMIP9):c.221C>T (p.Pro74Leu)	SPMIP9 (P74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322284	NM_152670.3(SPMIP9):c.236A>G (p.Lys79Arg)	SPMIP9 (K79R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3235451	NM_152670.3(SPMIP9):c.250C>T (p.Pro84Ser)	SPMIP9 (P84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235452	NM_152670.3(SPMIP9):c.295G>A (p.Glu99Lys)	SPMIP9 (E99K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3235453	NM_152670.3(SPMIP9):c.406G>C (p.Val136Leu)	SPMIP9 (V136L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370133	NM_152670.3(SPMIP9):c.418C>T (p.His140Tyr)	SPMIP9 (H140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254025	NM_152670.3(SPMIP9):c.424C>T (p.Pro142Ser)	SPMIP9 (P142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277885	NM_152670.3(SPMIP9):c.511C>T (p.Arg171Trp)	SPMIP9 (R171W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240396	NM_152670.3(SPMIP9):c.521C>G (p.Pro174Arg)	SPMIP9 (P174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062514	GRCh37/hg19 2p11.2(chr2:88134750-89126290)x1	EIF2AK3, FABP1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1808125	GRCh37/hg19 2p11.2(chr2:88046609-89126291)x1	RPIA, SMYD1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1176758	GRCh37/hg19 2p11.2(chr2:88007281-90260248)x1	EIF2AK3, FABP1 +8 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442637	GRCh37/hg19 2p11.2(chr2:88046608-89129064)x1	EIF2AK3, FABP1 +7 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 28