91137[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 153508	GRCh38/hg38 5q22.1(chr5:110469276-111738442)x1	CAMK4, LOC126807474 +32 more	Copy number loss	See cases	GUncertain significance
Select item 59447	GRCh38/hg38 5q22.1(chr5:110564896-111731572)x3	CAMK4, LOC126807474 +31 more	Copy number gain	See cases	GUncertain significance
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 1284497	NM_001303250.3(SLC25A46):c.10+2T>C	SLC25A46, TMEM232	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1187279	NM_001303250.3(SLC25A46):c.10+431T>C	SLC25A46, TMEM232	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219661	NM_001303250.3(SLC25A46):c.10+449T>C	SLC25A46, TMEM232	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 374891	NM_001303250.3(SLC25A46):c.10+526_11-1368delinsGGCCGGGCGCG	LOC129994344, SLC25A46 +2 more	Indel (intron variant)	Neuropathy, hereditary motor and sensory, type 6B	GPathogenic
Select item 1284005	NM_138773.3(SLC25A46):c.-144T>G	LOC129994343, SLC25A46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3043548	NM_138773.4(SLC25A46):c.-6G>A	SLC25A46	Single nucleotide variant (5 prime UTR variant +2 more)	SLC25A46-related disorder	GLikely benign
Select item 624057	NM_138773.4(SLC25A46):c.-1G>C	SLC25A46	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 937658	NM_138773.2(SLC25A46):c.1_1257del	LOC129994345, SLC25A46	Deletion	Neuropathy, hereditary motor and sensory, type 6B	GPathogenic
Select item 1428613	NM_138773.4(SLC25A46):c.3G>A (p.Met1Ile)	SLC25A46 (M1I)	Single nucleotide variant (missense variant +3 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2084857	NM_138773.4(SLC25A46):c.9G>A (p.Pro3=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 1359366	NM_138773.4(SLC25A46):c.9GCG[1] (p.Arg5del)	SLC25A46 (R5del)	Microsatellite (inframe_deletion +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 422422	NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs)	SLC25A46 (R5fs)	Insertion (frameshift variant +2 more)	Pontocerebellar hypoplasia, type 1E +3 more	GPathogenic
Select item 1571135	NM_138773.4(SLC25A46):c.12G>A (p.Arg4=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 1062905	NM_138773.4(SLC25A46):c.13C>A (p.Arg5Ser)	SLC25A46 (R5S)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 1390881	NM_138773.4(SLC25A46):c.14G>T (p.Arg5Leu)	SLC25A46 (R5L)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2028246	NM_138773.4(SLC25A46):c.18G>T (p.Pro6=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 1478064	NM_138773.4(SLC25A46):c.19G>A (p.Asp7Asn)	SLC25A46 (D7N)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GUncertain significance
Select item 571245	NM_138773.4(SLC25A46):c.23G>C (p.Gly8Ala)	SLC25A46 (G8A)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2607326	NM_138773.4(SLC25A46):c.26T>A (p.Phe9Tyr)	SLC25A46 (F9Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 971081	NM_138773.4(SLC25A46):c.26T>C (p.Phe9Ser)	SLC25A46 (F9S)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 1018323	NM_138773.4(SLC25A46):c.32G>A (p.Gly11Asp)	SLC25A46 (G11D)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2158630	NM_138773.4(SLC25A46):c.42C>T (p.Tyr14=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 1068768	NM_138773.4(SLC25A46):c.42C>G (p.Tyr14Ter)	SLC25A46 (Y14*)	Single nucleotide variant (nonsense +2 more)	Pontocerebellar hypoplasia, type 1E	GPathogenic
Select item 1397718	NM_138773.4(SLC25A46):c.43C>T (p.Arg15Trp)	SLC25A46 (R15W)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2613173	NM_138773.4(SLC25A46):c.44G>C (p.Arg15Pro)	SLC25A46 (R15P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 655776	NM_138773.4(SLC25A46):c.47del (p.Gly16fs)	SLC25A46 (G16fs)	Deletion (frameshift variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GPathogenic
Select item 542449	NM_138773.4(SLC25A46):c.44G>A (p.Arg15Gln)	SLC25A46 (R15Q)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 542450	NM_138773.4(SLC25A46):c.46G>T (p.Gly16Cys)	SLC25A46 (G16C)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 1666082	NM_138773.4(SLC25A46):c.48T>C (p.Gly16=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 565817	NM_138773.4(SLC25A46):c.50G>A (p.Gly17Asp)	SLC25A46 (G17D)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 542454	NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser)	SLC25A46 (A18S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely benign
Select item 2046325	NM_138773.4(SLC25A46):c.54C>T (p.Ala18=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 580231	NM_138773.4(SLC25A46):c.55C>A (p.Arg19=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GConflicting classifications of pathogenicity
Select item 1933703	NM_138773.4(SLC25A46):c.56G>T (p.Arg19Leu)	SLC25A46 (R19L)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 862786	NM_138773.4(SLC25A46):c.59A>T (p.Asp20Val)	SLC25A46 (D20V)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2049669	NM_138773.4(SLC25A46):c.61G>A (p.Glu21Lys)	SLC25A46 (E21K)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 577726	NM_138773.4(SLC25A46):c.63G>T (p.Glu21Asp)	SLC25A46 (E21D)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2790177	NM_138773.4(SLC25A46):c.75C>A (p.Gly25=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 1383943	NM_138773.4(SLC25A46):c.78C>T (p.Gly26=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 542456	NM_138773.4(SLC25A46):c.81C>T (p.Ala27=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GLikely benign
Select item 1539428	NM_138773.4(SLC25A46):c.84C>T (p.Phe28=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 1486636	NM_138773.4(SLC25A46):c.84C>G (p.Phe28Leu)	SLC25A46 (F28L)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2080518	NM_138773.4(SLC25A46):c.92G>A (p.Arg31Lys)	SLC25A46 (R31K)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 1426347	NM_138773.4(SLC25A46):c.93G>C (p.Arg31Ser)	SLC25A46 (R31S)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2887554	NM_138773.4(SLC25A46):c.96C>T (p.Ser32=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 664148	NM_138773.4(SLC25A46):c.100A>G (p.Ser34Gly)	SLC25A46 (S34G)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 711591	NM_138773.4(SLC25A46):c.105C>T (p.Thr35=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 2178130	NM_138773.4(SLC25A46):c.106G>C (p.Gly36Arg)	SLC25A46 (G36R)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 1464327	NM_138773.4(SLC25A46):c.106G>A (p.Gly36Arg)	SLC25A46 (G36R)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 809780	NM_138773.4(SLC25A46):c.107G>A (p.Gly36Glu)	SLC25A46 (G36E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2058920	NM_138773.4(SLC25A46):c.115C>T (p.Leu39=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 1380612	NM_138773.4(SLC25A46):c.116T>C (p.Leu39Pro)	SLC25A46 (L39P)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2027841	NM_138773.4(SLC25A46):c.123C>T (p.His41=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 860991	NM_138773.4(SLC25A46):c.124T>G (p.Trp42Gly)	SLC25A46 (W42G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2037471	NM_138773.4(SLC25A46):c.127G>A (p.Val43Met)	SLC25A46 (V43M)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 475790	NM_138773.4(SLC25A46):c.134C>T (p.Thr45Ile)	SLC25A46 (T45I)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2912896	NM_138773.4(SLC25A46):c.135T>C (p.Thr45=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 2655630	NM_138773.4(SLC25A46):c.135T>A (p.Thr45=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 730165	NM_138773.4(SLC25A46):c.144T>C (p.Asp48=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 2037971	NM_138773.4(SLC25A46):c.146T>C (p.Ile49Thr)	SLC25A46 (I49T)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 1673671	NM_138773.4(SLC25A46):c.147C>A (p.Ile49=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 475791	NM_138773.4(SLC25A46):c.147C>T (p.Ile49=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B +1 more	GBenign
Select item 542451	NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr)	SLC25A46 (P50T)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1395592	NM_138773.4(SLC25A46):c.158G>T (p.Arg53Leu)	SLC25A46 (R53L)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 2093548	NM_138773.4(SLC25A46):c.160A>C (p.Asn54His)	SLC25A46 (N54H)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 1776355	NM_138773.4(SLC25A46):c.160A>G (p.Asn54Asp)	SLC25A46 (N54D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 372237	NM_138773.4(SLC25A46):c.166dup (p.His56fs)	SLC25A46 (H56fs)	Duplication (frameshift variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GPathogenic
Select item 1116445	NM_138773.4(SLC25A46):c.168C>T (p.His56=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 641076	NM_138773.4(SLC25A46):c.169T>C (p.Trp57Arg)	SLC25A46 (W57R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1147861	NM_138773.4(SLC25A46):c.177G>A (p.Glu59=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 2543181	NM_138773.4(SLC25A46):c.179A>G (p.Lys60Arg)	SLC25A46 (K60R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3030326	NM_138773.4(SLC25A46):c.183C>T (p.Ser61=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	SLC25A46-related disorder	GLikely benign
Select item 834307	NM_138773.4(SLC25A46):c.185_189del (p.Pro62fs)	SLC25A46 (P62fs)	Deletion (frameshift variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GPathogenic
Select item 2004278	NM_138773.4(SLC25A46):c.186G>T (p.Pro62=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 760251	NM_138773.4(SLC25A46):c.189C>T (p.Pro63=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1522977	NM_138773.4(SLC25A46):c.193_201dup (p.Gly65_Pro67dup)	SLC25A46	Duplication (inframe_insertion +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 542452	NM_138773.4(SLC25A46):c.194G>C (p.Gly65Ala)	SLC25A46 (G65A)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 475792	NM_138773.4(SLC25A46):c.196G>T (p.Val66Leu)	SLC25A46 (V66L)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 704848	NM_138773.4(SLC25A46):c.198G>T (p.Val66=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign
Select item 2435998	NM_138773.4(SLC25A46):c.199C>T (p.Pro67Ser)	SLC25A46 (P67S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1015763	NM_138773.4(SLC25A46):c.203C>T (p.Thr68Ile)	SLC25A46 (T68I)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 958595	NM_138773.4(SLC25A46):c.203C>G (p.Thr68Ser)	SLC25A46 (T68S)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 953657	NM_138773.4(SLC25A46):c.209C>G (p.Ser70Cys)	SLC25A46 (S70C)	Single nucleotide variant (missense variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GUncertain significance
Select item 1079504	NM_138773.4(SLC25A46):c.210C>T (p.Ser70=)	SLC25A46	Single nucleotide variant (synonymous variant +2 more)	Neuropathy, hereditary motor and sensory, type 6B	GLikely benign

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