SLC25A35[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 194

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC112533665, LOC116276454 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	LOC130060203, LOC130060204 +110 more	Copy number gain	See cases	GUncertain significance
Select item 1318233	NM_201520.3(SLC25A35):c.*1236C>T	LOC130060240, RANGRF +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1317732	NM_001320871.2(SLC25A35):c.*43-31TTGA[8]	LOC130060240, RANGRF +1 more	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1316068	NM_001320871.2(SLC25A35):c.*43-31TTGA[6]	RANGRF, SLC25A35 +1 more	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1224078	NM_001330127.1(RANGRF):c.-169C>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1292115	NM_001330127.1(RANGRF):c.-156A>G	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 392087	NM_016492.5(RANGRF):c.-45A>C	RANGRF, SLC25A35	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 392541	NM_016492.5(RANGRF):c.-19A>C	RANGRF, SLC25A35	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 1710728	NM_016492.5(RANGRF):c.-2C>T	RANGRF, SLC25A35	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1406584	NM_016492.5(RANGRF):c.2T>A (p.Met1Lys)	SLC25A35, RANGRF (M1K)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 2907131	NM_016492.5(RANGRF):c.5A>G (p.Glu2Gly)	RANGRF, SLC25A35 (E2G)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1404532	NM_016492.5(RANGRF):c.11C>G (p.Thr4Arg)	SLC25A35, RANGRF (T4R)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2914343	NM_016492.5(RANGRF):c.12G>A (p.Thr4=)	RANGRF, SLC25A35	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1677880	NM_016492.5(RANGRF):c.16_17del (p.Asp6fs)	RANGRF, SLC25A35 (D6fs)	Microsatellite (frameshift variant +3 more)	not provided +1 more	GUncertain significance
Select item 1947101	NM_016492.5(RANGRF):c.20G>T (p.Cys7Phe)	RANGRF, SLC25A35 (C7F)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2163812	NM_016492.5(RANGRF):c.21C>T (p.Cys7=)	SLC25A35, RANGRF	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 392818	NM_016492.5(RANGRF):c.27G>C (p.Leu9=)	SLC25A35, RANGRF	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 1377877	NM_016492.5(RANGRF):c.35G>A (p.Gly12Asp)	RANGRF, SLC25A35 (G12D)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 666402	NM_016492.5(RANGRF):c.50T>A (p.Ile17Asn)	SLC25A35, RANGRF (I17N)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1022188	NM_016492.5(RANGRF):c.52C>A (p.Leu18Ile)	RANGRF, SLC25A35 (L18I)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 190841	NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe)	RANGRF, SLC25A35 (L18F)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 2738711	NM_016492.5(RANGRF):c.57C>T (p.Pro19=)	RANGRF, SLC25A35	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 664423	NM_016492.5(RANGRF):c.58A>T (p.Met20Leu)	RANGRF, SLC25A35 (M20L)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1430927	NM_016492.5(RANGRF):c.59T>C (p.Met20Thr)	SLC25A35, RANGRF (M20T)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1020321	NM_016492.5(RANGRF):c.64dup (p.Ala22fs)	RANGRF, SLC25A35 (A22fs)	Duplication (frameshift variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2142264	NM_016492.5(RANGRF):c.67A>G (p.Ile23Val)	RANGRF, SLC25A35 (I23V)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1144706	NM_016492.5(RANGRF):c.75A>T (p.Val25=)	RANGRF, SLC25A35	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 392547	NM_016492.5(RANGRF):c.77+5G>A	SLC25A35, RANGRF	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 1111791	NM_016492.5(RANGRF):c.77+8G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 514314	NM_016492.5(RANGRF):c.77+11C>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2160939	NM_016492.5(RANGRF):c.77+14G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 2164767	NM_016492.5(RANGRF):c.77+18C>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 379871	NM_016492.5(RANGRF):c.77+19C>G	SLC25A35, RANGRF	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign
Select item 511840	NM_016492.5(RANGRF):c.78-20T>C	LOC130060241, RANGRF +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia +1 more	GLikely benign
Select item 1902794	NM_016492.5(RANGRF):c.78-16C>T	LOC130060241, RANGRF +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 2273252	NM_016492.5(RANGRF):c.78C>G (p.Ser26Arg)	LOC130060241, RANGRF +1 more (S26R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 241109	NM_016492.5(RANGRF):c.81C>T (p.Asp27=)	LOC130060241, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia +1 more	GBenign
Select item 1539434	NM_016492.5(RANGRF):c.85C>A (p.Arg29=)	LOC130060241, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 2092901	NM_016492.5(RANGRF):c.92T>G (p.Val31Gly)	LOC130060241, RANGRF +1 more (V31G)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 956645	NM_016492.5(RANGRF):c.95C>T (p.Pro32Leu)	LOC130060241, RANGRF +1 more (P32L)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1369857	NM_016492.5(RANGRF):c.97G>T (p.Asp33Tyr)	RANGRF, SLC25A35 +1 more (D33Y)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1041435	NM_016492.5(RANGRF):c.109G>A (p.Val37Ile)	RANGRF, LOC130060241 +1 more (V37I)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1987123	NM_016492.5(RANGRF):c.123C>T (p.Pro41=)	LOC130060241, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1110143	NM_016492.5(RANGRF):c.124G>T (p.Val42Leu)	LOC130060241, RANGRF +1 more (V42L)	Single nucleotide variant (missense variant +3 more)	RANGRF-related condition +1 more	GLikely benign
Select item 1039994	NM_016492.5(RANGRF):c.128C>T (p.Thr43Met)	SLC25A35, RANGRF +1 more (T43M)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2108057	NM_016492.5(RANGRF):c.129G>A (p.Thr43=)	LOC130060241, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 288027	NM_016492.5(RANGRF):c.132C>A (p.Asp44Glu)	LOC130060241, RANGRF +1 more (D44E)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 2275397	NM_016492.5(RANGRF):c.134A>G (p.Gln45Arg)	LOC130060241, RANGRF +1 more (Q45R)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 1425505	NM_016492.5(RANGRF):c.142del (p.Leu47_Ile48insTer)	LOC130060241, RANGRF +1 more	Deletion (nonsense +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 944744	NM_016492.5(RANGRF):c.143T>C (p.Ile48Thr)	LOC130060241, RANGRF +1 more (I48T)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1024408	NM_016492.5(RANGRF):c.148G>A (p.Glu50Lys)	LOC130060241, RANGRF +1 more (E50K)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 190844	NM_016492.5(RANGRF):c.151C>G (p.Leu51Val)	LOC130060241, RANGRF +1 more (L51V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1427445	NM_016492.5(RANGRF):c.155T>C (p.Leu52Pro)	LOC130060241, RANGRF +1 more (L52P)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2115057	NM_016492.5(RANGRF):c.157_158delinsTT (p.Glu53Leu)	RANGRF, SLC25A35 +1 more (E53L)	Indel (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 476622	NM_016492.5(RANGRF):c.160C>T (p.Leu54=)	LOC130060241, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 1916026	NM_016492.5(RANGRF):c.162_163delinsAT (p.Gln55Ter)	LOC130060241, RANGRF +1 more (Q55*)	Indel (nonsense +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 750785	NM_016492.5(RANGRF):c.162G>A (p.Leu54=)	LOC130060241, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2808825	NM_016492.5(RANGRF):c.167C>A (p.Ala56Asp)	RANGRF, SLC25A35 (A56D)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2255595	NM_016492.5(RANGRF):c.167C>T (p.Ala56Val)	RANGRF, SLC25A35 (A56V)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 1570248	NM_016492.5(RANGRF):c.171C>T (p.His57=)	RANGRF, SLC25A35	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 543067	NM_016492.5(RANGRF):c.172G>A (p.Val58Ile)	RANGRF, SLC25A35 (V58I)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 2721486	NM_016492.5(RANGRF):c.173T>A (p.Val58Glu)	RANGRF, SLC25A35 (V58E)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2788278	NM_016492.5(RANGRF):c.176G>T (p.Arg59Leu)	RANGRF, SLC25A35 (R59L)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1403512	NM_016492.5(RANGRF):c.176G>C (p.Arg59Pro)	RANGRF, SLC25A35 (R59P)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 2993121	NM_016492.5(RANGRF):c.177G>A (p.Arg59=)	SLC25A35, RANGRF	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia	GLikely benign
Select item 2047768	NM_016492.5(RANGRF):c.179G>A (p.Gly60Asp)	SLC25A35, RANGRF (G60D)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 190845	NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter)	RANGRF, SLC25A35 (E61*)	Single nucleotide variant (nonsense +3 more)	RANGRF-related condition +3 more	GBenign/Likely benign
Select item 1507967	NM_016492.5(RANGRF):c.185C>G (p.Ala62Gly)	RANGRF, SLC25A35 (A62G +1 more)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 1585384	NM_016492.5(RANGRF):c.186G>T (p.Ala62=)	RANGRF, SLC25A35 (R62L)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 2088711	NM_016492.5(RANGRF):c.189T>G (p.Ala63=)	RANGRF, SLC25A35 (L63R)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 2157756	NM_016492.5(RANGRF):c.190G>A (p.Ala64Thr)	RANGRF, SLC25A35 (A64T)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 841681	NM_016492.5(RANGRF):c.194G>T (p.Arg65Leu)	RANGRF, SLC25A35 (R65L +1 more)	Single nucleotide variant (missense variant +3 more)	Cardiac arrhythmia	GUncertain significance
Select item 234699	NM_016492.5(RANGRF):c.194+1G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1975565	NM_016492.5(RANGRF):c.194+6G>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 1098936	NM_016492.5(RANGRF):c.194+8A>G	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1552831	NM_016492.5(RANGRF):c.194+9A>C	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 2153108	NM_016492.5(RANGRF):c.194+10T>C	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 392548	NM_016492.5(RANGRF):c.194+13C>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia +1 more	GLikely benign
Select item 1588604	NM_016492.5(RANGRF):c.194+14C>T	SLC25A35, RANGRF	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 2059284	NM_016492.5(RANGRF):c.194+15C>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1292499	NM_016492.5(RANGRF):c.194+17C>G	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2716249	NM_016492.5(RANGRF):c.194+18G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1318360	NM_016492.5(RANGRF):c.195-86G>T	RANGRF, SLC25A35 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1612979	NM_016492.5(RANGRF):c.195-15G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 1589164	NM_016492.5(RANGRF):c.195-4C>T	SLC25A35, RANGRF	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 2537033	NM_016492.5(RANGRF):c.201C>G (p.His67Gln)	RANGRF, SLC25A35 (T67S +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2713459	NM_016492.5(RANGRF):c.202T>A (p.Phe68Ile)	RANGRF, SLC25A35 (F68I)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 3013416	NM_016492.5(RANGRF):c.207G>A (p.Glu69=)	RANGRF, SLC25A35 (R69K)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 2188377	NM_016492.5(RANGRF):c.219C>T (p.Gly73=)	SLC25A35, RANGRF (A73V)	Single nucleotide variant (synonymous variant +4 more)	Cardiac arrhythmia	GLikely benign
Select item 2537034	NM_016492.5(RANGRF):c.220G>T (p.Val74Leu)	RANGRF, SLC25A35 (V74L)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 2715610	NM_016492.5(RANGRF):c.238G>A (p.Val80Ile)	RANGRF, SLC25A35 (V80I)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance
Select item 2146131	NM_016492.5(RANGRF):c.242A>G (p.His81Arg)	RANGRF, SLC25A35 (H81R +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2713475	NM_016492.5(RANGRF):c.247G>A (p.Glu83Lys)	RANGRF, SLC25A35 (E83K +1 more)	Single nucleotide variant (missense variant +4 more)	Cardiac arrhythmia	GUncertain significance

<< First< Prev

Page of 2