SMIM27[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 2659140	NM_005802.5(TOPORS):c.4-193G>T	LOC130001630, SMIM27 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1904086	NM_005802.5(TOPORS):c.3+17A>T	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2005006	NM_005802.5(TOPORS):c.3+10C>T	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1151217	NM_005802.5(TOPORS):c.3+8G>A	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 915085	NM_005802.5(TOPORS):c.3+3A>G	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	Retinitis pigmentosa	GUncertain significance
Select item 2793958	NM_005802.5(TOPORS):c.3+2T>C	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1020362	NM_005802.5(TOPORS):c.3+1G>A	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2994492	NM_005802.5(TOPORS):c.2T>C (p.Met1Thr)	SMIM27, TOPORS (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 858769	NM_005802.5(TOPORS):c.1A>G (p.Met1Val)	SMIM27, TOPORS (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 366574	NM_005802.5(TOPORS):c.-28G>C	SMIM27, TOPORS (D10E)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +1 more	GBenign
Select item 976633	NM_005802.5(TOPORS):c.-61G>A	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 366575	NM_005802.5(TOPORS):c.-64C>T	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 366576	NM_005802.4(TOPORS):c.-172G>A	SMIM27, TOPORS	Single nucleotide variant (intron variant)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 366577	NM_005802.4(TOPORS):c.-191T>C	SMIM27, TOPORS	Single nucleotide variant (intron variant)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 3187926	NM_002493.5(NDUFB6):c.352C>G (p.Pro118Ala)	NDUFB6, SMIM27 (P103A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343388	NM_002493.5(NDUFB6):c.316C>T (p.Pro106Ser)	NDUFB6, SMIM27 (P75S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187920	NM_002493.5(NDUFB6):c.308G>T (p.Arg103Ile)	NDUFB6, SMIM27 (R103I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 45