SLC25A40[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	PTTG1IP2, RUNDC3B +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 2409627	NM_018843.4(SLC25A40):c.839A>G (p.His280Arg)	SLC25A40 (H280R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052778	NM_018843.4(SLC25A40):c.829A>G (p.Met277Val)	SLC25A40 (M277V)	Single nucleotide variant (missense variant)	SLC25A40-related condition	GLikely benign
Select item 3052479	NM_018843.4(SLC25A40):c.810T>C (p.Tyr270=)	SLC25A40	Single nucleotide variant (synonymous variant)	SLC25A40-related condition	GLikely benign
Select item 2608136	NM_018843.4(SLC25A40):c.805A>G (p.Thr269Ala)	SLC25A40 (T269A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459194	NM_018843.4(SLC25A40):c.757A>G (p.Thr253Ala)	SLC25A40 (T253A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330643	NM_018843.4(SLC25A40):c.715T>A (p.Phe239Ile)	SLC25A40 (F239I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263849	NM_018843.4(SLC25A40):c.673T>A (p.Cys225Ser)	SLC25A40 (C225S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558029	NM_018843.4(SLC25A40):c.654A>C (p.Glu218Asp)	SLC25A40 (E218D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616327	NM_018843.4(SLC25A40):c.536T>C (p.Leu179Pro)	SLC25A40 (L179P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516362	NM_018843.4(SLC25A40):c.529G>A (p.Val177Met)	SLC25A40 (V177M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2526429	NM_018843.4(SLC25A40):c.505A>G (p.Met169Val)	SLC25A40 (M169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657659	NM_018843.4(SLC25A40):c.368C>T (p.Thr123Ile)	SLC25A40 (T123I)	Single nucleotide variant (missense variant)	SLC25A40-related condition +1 more	GBenign/Likely benign
Select item 3048421	NM_018843.4(SLC25A40):c.314G>A (p.Ser105Asn)	SLC25A40 (S105N)	Single nucleotide variant (missense variant)	SLC25A40-related condition	GLikely benign
Select item 2267968	NM_018843.4(SLC25A40):c.254A>G (p.Gln85Arg)	SLC25A40 (Q85R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623134	NM_018843.4(SLC25A40):c.179A>G (p.Asn60Ser)	SLC25A40 (N60S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808544	GRCh37/hg19 7q21.12(chr7:87379070-87880398)x3	ADAM22, DBF4 +3 more	Copy number gain	not provided	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 1527374	GRCh37/hg19 7q21.12-21.13(chr7:87482666-89449405)	ADAM22, DBF4 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 979630	GRCh37/hg19 7q21.12(chr7:86833114-87553208)x3	ABCB4, RUNDC3B +5 more	Copy number gain	not provided	GUncertain significance
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 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 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: 31