ClinVar for Gene (Select 9363) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381712	NM_004208.4(AIFM1):c.1619A>C (p.Glu540Ala)	AIFM1, RAB33A (E201A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3381711	NM_004208.4(AIFM1):c.1607C>T (p.Ser536Phe)	AIFM1, RAB33A (S197F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3372124	NM_004208.4(AIFM1):c.925G>A (p.Gly309Ser)	AIFM1, RAB33A (G305S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371877	NM_004208.4(AIFM1):c.1720G>T (p.Val574Leu)	AIFM1, RAB33A (V235L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3370382	GRCh38/hg38 Xq25-26.1(chrX:128513670-130118616)x2	APLN, BCORL1 +57 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3368690	NM_004208.4(AIFM1):c.22G>A (p.Ala8Thr)	AIFM1, LOC130068679 +1 more (A8T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367595	NM_004208.4(AIFM1):c.76_77delinsTC (p.Arg26Ser)	RAB33A, AIFM1 +1 more (R26S)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3365583	NM_004208.4(AIFM1):c.1465G>C (p.Asp489His)	AIFM1, RAB33A (D150H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3363927	NM_004208.4(AIFM1):c.44A>C (p.Lys15Thr)	AIFM1, LOC130068679 +1 more (K15T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343548	NM_004208.4(AIFM1):c.347C>G (p.Ser116Cys)	AIFM1, RAB33A (S112C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343346	NM_004208.4(AIFM1):c.262A>C (p.Met88Leu)	AIFM1, RAB33A (M84L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3336464	NM_004208.4(AIFM1):c.750A>G (p.Gln250=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3312134	NM_004794.3(RAB33A):c.302G>C (p.Ser101Thr)	RAB33A (S101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312133	NM_004794.3(RAB33A):c.148A>T (p.Thr50Ser)	RAB33A (T50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3253355	NM_004208.4(AIFM1):c.1232G>C (p.Gly411Ala)	AIFM1, RAB33A (G407A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3251175	NM_004208.4(AIFM1):c.1289G>A (p.Arg430His)	AIFM1, RAB33A (R426H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3250809	NM_004208.4(AIFM1):c.1553A>C (p.Lys518Thr)	AIFM1, RAB33A (K179T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3150677	NM_004794.3(RAB33A):c.658G>T (p.Val220Leu)	RAB33A (V220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150676	NM_004794.3(RAB33A):c.407A>G (p.Asn136Ser)	RAB33A (N136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3102540	NM_004208.4(AIFM1):c.1315G>A (p.Ala439Thr)	AIFM1, RAB33A (A439T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062487	GRCh37/hg19 Xq26.1(chrX:129300637-129325863)	RAB33A	Copy number loss	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3061935	NM_004208.4(AIFM1):c.1463C>T (p.Pro488Leu)	AIFM1, RAB33A (P149L +2 more)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy spectrum disorder	GPathogenic
Select item 3061934	NM_004208.4(AIFM1):c.697G>A (p.Val233Ile)	AIFM1, RAB33A (V229I +1 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy spectrum disorder	GLikely pathogenic
Select item 3046355	NM_004208.4(AIFM1):c.968-349C>G	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +1 more)	AIFM1-related disorder	GLikely benign
Select item 3039144	NM_004208.4(AIFM1):c.-119A>G	AIFM1, LOC130068679 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	AIFM1-related disorder	GLikely benign
Select item 3038673	NM_004208.4(AIFM1):c.697-53T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	AIFM1-related disorder	GLikely benign
Select item 3036015	NM_004208.4(AIFM1):c.1754T>C (p.Met585Thr)	AIFM1, RAB33A (M246T +2 more)	Single nucleotide variant (missense variant +2 more)	AIFM1-related disorder	GUncertain significance
Select item 3032619	NM_004208.4(AIFM1):c.782-9T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	AIFM1-related disorder	GLikely benign
Select item 3029922	NM_004208.4(AIFM1):c.-133G>A	AIFM1, LOC130068679 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	AIFM1-related disorder	GLikely benign
Select item 3029174	NM_004208.4(AIFM1):c.488C>G (p.Ser163Cys)	AIFM1, RAB33A (S163C +1 more)	Single nucleotide variant (missense variant +1 more)	AIFM1-related disorder	GUncertain significance
Select item 3029143	NM_004208.4(AIFM1):c.32C>G (p.Ala11Gly)	AIFM1, LOC130068679 +1 more (A11G)	Single nucleotide variant (missense variant +1 more)	AIFM1-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2954149	NM_004208.4(AIFM1):c.1076-10G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2951460	NM_004208.4(AIFM1):c.77G>C (p.Arg26Pro)	AIFM1, LOC130068679 +1 more (R26P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2950927	NM_004208.4(AIFM1):c.250-6C>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2950317	NM_004208.4(AIFM1):c.1636A>C (p.Ser546Arg)	AIFM1, RAB33A (S207R +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2949781	NM_004208.4(AIFM1):c.1076-14G>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948631	NM_004208.4(AIFM1):c.1076-6T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948133	NM_004208.4(AIFM1):c.1155C>T (p.Asp385=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948033	NM_004208.4(AIFM1):c.1076-7T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2947856	NM_004208.4(AIFM1):c.51G>T (p.Val17=)	AIFM1, LOC130068679 +1 more	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2947625	NM_004208.4(AIFM1):c.881A>G (p.Glu294Gly)	AIFM1, RAB33A (E290G +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2947352	NM_004208.4(AIFM1):c.350-5T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2947002	NM_004208.4(AIFM1):c.723C>T (p.Asn241=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2946230	NM_004208.4(AIFM1):c.98G>A (p.Arg33Gln)	AIFM1, LOC130068679 +1 more (R33Q)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2946132	NM_004208.4(AIFM1):c.1771-8T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2943270	NM_004208.4(AIFM1):c.318A>G (p.Pro106=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2942879	NM_004208.4(AIFM1):c.756C>T (p.Thr252=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2942676	NM_004208.4(AIFM1):c.1448+12G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2942330	NM_004208.4(AIFM1):c.1337A>G (p.Lys446Arg)	AIFM1, RAB33A (K107R +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2941935	NM_004208.4(AIFM1):c.700G>C (p.Val234Leu)	AIFM1, RAB33A (V230L +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2941235	NM_004208.4(AIFM1):c.1161G>A (p.Arg387=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2941191	NM_004208.4(AIFM1):c.967+15G>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2941138	NM_004208.4(AIFM1):c.1688G>C (p.Gly563Ala)	AIFM1, RAB33A (G224A +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +2 more	GUncertain significance
Select item 2941013	NM_004208.4(AIFM1):c.1373C>G (p.Ala458Gly)	AIFM1, RAB33A (A454G +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2940562	NM_004208.4(AIFM1):c.397C>T (p.Pro133Ser)	AIFM1, RAB33A (P129S +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2940453	NM_004208.4(AIFM1):c.1164+9G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2939214	NM_004208.4(AIFM1):c.651G>C (p.Leu217=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2938751	NM_004208.4(AIFM1):c.1441A>G (p.Met481Val)	AIFM1, RAB33A (M142V +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2938748	NM_004208.4(AIFM1):c.819T>A (p.Ala273=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2938337	NM_004208.4(AIFM1):c.537G>A (p.Leu179=)	AIFM1, RAB33A	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2937443	NM_004208.4(AIFM1):c.986A>G (p.Glu329Gly)	AIFM1, RAB33A (E329G +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2937368	NM_004208.4(AIFM1):c.31G>C (p.Ala11Pro)	AIFM1, LOC130068679 +1 more (A11P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2936886	NM_004208.4(AIFM1):c.1573+3A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2936547	NM_004208.4(AIFM1):c.1608C>T (p.Ser536=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2936083	NM_004208.4(AIFM1):c.559G>A (p.Val187Ile)	AIFM1, RAB33A (V187I +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935678	NM_004208.4(AIFM1):c.606-15C>G	RAB33A, AIFM1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935650	NM_004208.4(AIFM1):c.349+13_349+14insTCCCTAC	AIFM1, RAB33A	Insertion (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935332	NM_004208.4(AIFM1):c.606-17CT[2]	AIFM1, RAB33A	Microsatellite (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935101	NM_004208.4(AIFM1):c.1553A>G (p.Lys518Arg)	AIFM1, RAB33A (K514R +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2934821	NM_004208.4(AIFM1):c.782-11C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GBenign
Select item 2934504	NM_004208.4(AIFM1):c.258G>T (p.Lys86Asn)	AIFM1, RAB33A (K86N +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2934417	NM_004208.4(AIFM1):c.1679A>G (p.Tyr560Cys)	AIFM1, RAB33A (Y560C +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2934140	NM_004208.4(AIFM1):c.249+18G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2933356	NM_004208.4(AIFM1):c.1195G>A (p.Gly399Ser)	AIFM1, RAB33A (G60S +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely pathogenic
Select item 2933243	NM_004208.4(AIFM1):c.1559C>T (p.Ala520Val)	AIFM1, RAB33A (A516V +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2932529	NM_004208.4(AIFM1):c.966G>A (p.Lys322=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2932457	NM_004208.4(AIFM1):c.1589C>T (p.Ser530Leu)	AIFM1, RAB33A (S191L +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2931833	NM_004208.4(AIFM1):c.562A>G (p.Thr188Ala)	AIFM1, RAB33A (T188A +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2931826	NM_004208.4(AIFM1):c.1356A>G (p.Val452=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2931269	NM_004208.4(AIFM1):c.696+20_696+22del	RAB33A, AIFM1	Microsatellite (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2931216	NM_004208.4(AIFM1):c.349+6T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2929649	NM_004208.4(AIFM1):c.1005C>T (p.Pro335=)	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +3 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2929565	NM_004208.4(AIFM1):c.738T>C (p.Asn246=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2929452	NM_004208.4(AIFM1):c.1771-14T>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2928438	NM_004208.4(AIFM1):c.1112C>A (p.Ser371Tyr)	AIFM1, RAB33A (S371Y +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2928089	NM_004208.4(AIFM1):c.1740C>T (p.Asn580=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2928059	NM_004208.4(AIFM1):c.649C>T (p.Leu217=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GBenign
Select item 2925996	NM_004208.4(AIFM1):c.781+19G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2925030	NM_004208.4(AIFM1):c.173G>T (p.Gly58Val)	AIFM1, RAB33A (G58V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2923976	NM_004208.4(AIFM1):c.846G>A (p.Thr282=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2923785	NM_004208.4(AIFM1):c.1719C>T (p.Val573=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2921945	NM_004208.4(AIFM1):c.967+9T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2921429	NM_004208.4(AIFM1):c.1044C>T (p.Leu348=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign

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