SLC25A47[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	IGHD3-22, IGHD3-3 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LINC00677, LINC01550 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056627, LOC130056628 +653 more	Copy number gain	See cases	GPathogenic
Select item 153097	GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	BEGAIN, DEGS2 +96 more	Copy number loss	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +631 more	Copy number loss	See cases	GPathogenic
Select item 154707	GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	BEGAIN, DEGS2 +130 more	Copy number loss	See cases	GPathogenic
Select item 152326	GRCh38/hg38 14q32.2(chr14:100236766-100743192)x3	BEGAIN, LOC130056452 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR494, MIR495 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 2257786	NM_207117.4(SLC25A47):c.13G>A (p.Ala5Thr)	SLC25A47 (A5T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3163784	NM_207117.4(SLC25A47):c.26G>A (p.Gly9Glu)	SLC25A47 (G9E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3163786	NM_207117.4(SLC25A47):c.37G>A (p.Gly13Ser)	SLC25A47 (G13S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 161859	NM_207117.4(SLC25A47):c.56C>T (p.Pro19Leu)	SLC25A47 (P19L)	Single nucleotide variant (5 prime UTR variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2255528	NM_207117.4(SLC25A47):c.100A>G (p.Thr34Ala)	SLC25A47 (T34A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2228154	NM_207117.4(SLC25A47):c.137G>A (p.Arg46Gln)	SLC25A47 (R46Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2284239	NM_207117.4(SLC25A47):c.145G>C (p.Val49Leu)	SLC25A47 (V49L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481335	NM_207117.4(SLC25A47):c.178G>T (p.Val60Leu)	SLC25A47 (V60L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2395323	NM_207117.4(SLC25A47):c.247C>T (p.Arg83Trp)	SLC25A47 (R83W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2412350	NM_207117.4(SLC25A47):c.248G>A (p.Arg83Gln)	SLC25A47 (R83Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2377394	NM_207117.4(SLC25A47):c.254G>A (p.Arg85Gln)	SLC25A47 (R85Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3163785	NM_207117.4(SLC25A47):c.296C>A (p.Thr99Lys)	SLC25A47 (T99K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2521036	NM_207117.4(SLC25A47):c.326G>A (p.Arg109His)	SLC25A47 (R109H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2392708	NM_207117.4(SLC25A47):c.374C>T (p.Thr125Met)	SLC25A47 (T125M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2525705	NM_207117.4(SLC25A47):c.386C>T (p.Ala129Val)	SLC25A47 (A129V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2280368	NM_207117.4(SLC25A47):c.400C>T (p.Arg134Trp)	SLC25A47 (R134W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2468484	NM_207117.4(SLC25A47):c.401G>A (p.Arg134Gln)	SLC25A47 (R134Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1271753	NM_207117.4(SLC25A47):c.404G>T (p.Arg135Leu)	SLC25A47 (R135L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3163787	NM_207117.4(SLC25A47):c.410C>T (p.Ser137Leu)	SLC25A47 (S137L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3163789	NM_207117.4(SLC25A47):c.445C>T (p.Pro149Ser)	SLC25A47 (P3S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266993	NM_207117.4(SLC25A47):c.479G>A (p.Arg160His)	SLC25A47 (R14H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593457	NM_207117.4(SLC25A47):c.512G>A (p.Arg171His)	SLC25A47 (R171H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163790	NM_207117.4(SLC25A47):c.613G>A (p.Glu205Lys)	SLC25A47 (E205K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564175	NM_207117.4(SLC25A47):c.628G>A (p.Ala210Thr)	SLC25A47 (A64T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644525	NM_207117.4(SLC25A47):c.640C>T (p.Arg214Trp)	SLC25A47 (R214W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3163791	NM_207117.4(SLC25A47):c.712A>G (p.Met238Val)	SLC25A47 (M238V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644526	NM_207117.4(SLC25A47):c.766C>T (p.Arg256Trp)	SLC25A47 (R110W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2399320	NM_207117.4(SLC25A47):c.814C>T (p.Arg272Trp)	SLC25A47 (R126W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163792	NM_207117.4(SLC25A47):c.820C>T (p.Leu274Phe)	SLC25A47 (L128F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163793	NM_207117.4(SLC25A47):c.824T>A (p.Phe275Tyr)	SLC25A47 (F129Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163794	NM_207117.4(SLC25A47):c.856T>C (p.Phe286Leu)	SLC25A47 (F140L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644527	NM_207117.4(SLC25A47):c.861T>C (p.Pro287=)	SLC25A47	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3163795	NM_207117.4(SLC25A47):c.880G>A (p.Val294Ile)	SLC25A47 (V294I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644528	NM_207117.4(SLC25A47):c.882C>T (p.Val294=)	SLC25A47	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2346949	NM_207117.4(SLC25A47):c.883G>A (p.Ala295Thr)	SLC25A47 (A295T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163796	NM_207117.4(SLC25A47):c.904C>T (p.Leu302Phe)	SLC25A47 (L156F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063330	GRCh37/hg19 14q32.2(chr14:100678749-101242671)x1	BEGAIN, DLK1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 2684746	GRCh37/hg19 14q32.2(chr14:100744130-100910267)x3	SLC25A29, SLC25A47 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2578330	GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1	BEGAIN, DEGS2 +25 more	Copy number loss	Motor developmental delay due to 14q32.2 paternally expressed gene defect	GPathogenic
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	PPP2R5C, RCOR1 +112 more	Copy number loss	See cases	GPathogenic
Select item 813332	GRCh37/hg19 14q32.2(chr14:100317190-101012999)	WARS1, WDR25 +7 more	Copy number loss	Gabriele de Vries syndrome	GPathogenic
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 685016	GRCh37/hg19 14q32.2(chr14:100744400-100910248)x3	SLC25A29, SLC25A47 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625815	GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)	BEGAIN, CCDC85C +35 more	Copy number gain	not provided	GLikely pathogenic
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	ADSS1, AHNAK2 +98 more	Copy number gain	not provided	GPathogenic
Select item 564133	GRCh37/hg19 14q32.2(chr14:98924025-101159952)x3	WDR25, LINC02914 +14 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	AHNAK2, ADSS1 +96 more	Copy number loss	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 75