SLC25A27[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 2217995	NM_004277.5(SLC25A27):c.27G>C (p.Arg9Ser)	SLC25A27 (R9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597730	NM_004277.5(SLC25A27):c.56G>A (p.Arg19Gln)	SLC25A27 (R19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227591	NM_004277.5(SLC25A27):c.170G>C (p.Arg57Pro)	SLC25A27 (R57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314025	NM_004277.5(SLC25A27):c.173T>C (p.Leu58Ser)	SLC25A27 (L58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718746	NM_004277.5(SLC25A27):c.180C>T (p.Asp60=)	SLC25A27	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2335469	NM_004277.5(SLC25A27):c.226C>G (p.Leu76Val)	SLC25A27 (L76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224003	NM_004277.5(SLC25A27):c.230G>A (p.Gly77Glu)	SLC25A27 (G77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360752	NM_004277.5(SLC25A27):c.280G>T (p.Ala94Ser)	SLC25A27 (A94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604217	NM_004277.5(SLC25A27):c.368A>G (p.Glu123Gly)	SLC25A27 (E123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543050	NM_004277.5(SLC25A27):c.394A>T (p.Ile132Phe)	SLC25A27 (I132F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219312	NM_004277.5(SLC25A27):c.748G>A (p.Asp250Asn)	SLC25A27 (D250N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281249	NM_004277.5(SLC25A27):c.800G>A (p.Gly267Glu)	SLC25A27, TDRD6-AS1 (G267E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336505	NM_004277.5(SLC25A27):c.830T>C (p.Leu277Ser)	SLC25A27, TDRD6-AS1 (L277S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493511	NM_004277.5(SLC25A27):c.832A>G (p.Ile278Val)	SLC25A27, TDRD6-AS1 (I278V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163663	NM_004277.5(SLC25A27):c.861G>T (p.Met287Ile)	SLC25A27, TDRD6-AS1 (M287I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624145	NM_004277.5(SLC25A27):c.913A>G (p.Met305Val)	SLC25A27, TDRD6-AS1 (M305V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163664	NM_004277.5(SLC25A27):c.936A>C (p.Glu312Asp)	SLC25A27, TDRD6-AS1 (E312D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 25