SLC25A21-AS1[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 154357	GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3	LOC108281111, LOC110120901 +19 more	Copy number gain	See cases	GPathogenic
Select item 57775	GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1	CLEC14A, FBXO33 +62 more	Copy number loss	See cases	GPathogenic
Select item 151241	GRCh38/hg38 14q13.3(chr14:36533448-37341419)x1	LOC108281111, LOC110120902 +10 more	Copy number loss	See cases	GPathogenic
Select item 154647	GRCh38/hg38 14q13.3(chr14:36785334-37228540)x1	LOC124995371, LOC126861919 +5 more	Copy number loss	See cases	GUncertain significance
Select item 57776	GRCh38/hg38 14q13.3-21.1(chr14:37121338-37866986)x1	FOXA1, LOC110120902 +10 more	Copy number loss	See cases	GPathogenic
Select item 154789	GRCh38/hg38 14q13.3-21.1(chr14:37138631-37533761)x3	LOC110120902, LOC111500315 +4 more	Copy number gain	See cases	GLikely benign
Select item 1939440	NM_030631.4(SLC25A21):c.70+15C>T	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3011104	NM_030631.4(SLC25A21):c.70+9A>G	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2751917	NM_030631.4(SLC25A21):c.62G>C (p.Gly21Ala)	SLC25A21, SLC25A21-AS1 (G21A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2144785	NM_030631.4(SLC25A21):c.52G>T (p.Val18Leu)	SLC25A21, SLC25A21-AS1 (V18L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1928750	NM_030631.4(SLC25A21):c.51C>G (p.Ile17Met)	SLC25A21, SLC25A21-AS1 (I17M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3367058	NM_030631.4(SLC25A21):c.43C>T (p.Arg15Trp)	SLC25A21, SLC25A21-AS1 (R15W)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial DNA depletion syndrome 18	GUncertain significance
Select item 3011673	NM_030631.4(SLC25A21):c.38C>T (p.Ala13Val)	SLC25A21-AS1, SLC25A21 (A13V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2288343	NM_030631.4(SLC25A21):c.19G>A (p.Val7Ile)	SLC25A21, SLC25A21-AS1 (V7I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2956627	NM_030631.4(SLC25A21):c.15T>C (p.Pro5=)	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3021154	NM_030631.4(SLC25A21):c.6C>T (p.Ser2=)	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3024861	NM_030631.4(SLC25A21):c.-210C>A	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 29