514[geneid] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 3065807	NM_006886.4(ATP5F1E):c.151G>T (p.Glu51Ter)	ATP5F1E, SLMO2-ATP5E (E51*)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 3	GUncertain significance
Select item 1922032	NM_006886.4(ATP5F1E):c.151G>A (p.Glu51Lys)	ATP5F1E, SLMO2-ATP5E (E51K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3016660	NM_006886.4(ATP5F1E):c.147G>A (p.Lys49=)	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2133572	NM_006886.4(ATP5F1E):c.144_146del (p.Lys50del)	ATP5F1E, SLMO2-ATP5E (K50del)	Deletion (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 680912	NM_006886.4(ATP5F1E):c.117T>A (p.Ser39=)	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2847490	NM_006886.4(ATP5F1E):c.116C>G (p.Ser39Cys)	ATP5F1E, SLMO2-ATP5E (S39C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 680911	NM_006886.4(ATP5F1E):c.114T>C (p.Thr38=)	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1316129	NM_006886.4(ATP5F1E):c.86C>A (p.Thr29Lys)	ATP5F1E, SLMO2-ATP5E (T29K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2979642	NM_006886.4(ATP5F1E):c.85A>G (p.Thr29Ala)	ATP5F1E, SLMO2-ATP5E (T29A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2820565	NM_006886.4(ATP5F1E):c.57T>G (p.Cys19Trp)	ATP5F1E, SLMO2-ATP5E (C19W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2169872	NM_006886.4(ATP5F1E):c.54C>G (p.Ile18Met)	ATP5F1E, SLMO2-ATP5E (I18M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3046491	NM_006886.4(ATP5F1E):c.42A>C (p.Arg14=)	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (non-coding transcript variant +1 more)	ATP5F1E-related disorder	GLikely benign
Select item 2957680	NM_006886.4(ATP5F1E):c.41G>C (p.Arg14Pro)	ATP5F1E, SLMO2-ATP5E (R14P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2871616	NM_006886.4(ATP5F1E):c.40C>T (p.Arg14Ter)	ATP5F1E, SLMO2-ATP5E (R14*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 30551	NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)	ATP5F1E, SLMO2-ATP5E (Y12C)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 3	GPathogenic
Select item 677602	NM_006886.4(ATP5F1E):c.33-65A>T	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320592	NM_006886.4(ATP5F1E):c.33-163G>A	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683340	NM_006886.4(ATP5F1E):c.32+304T>C	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 136462	NM_006886.4(ATP5F1E):c.32+15C>T	ATP5F1E, LOC130066277 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2991291	NM_006886.4(ATP5F1E):c.32+6C>T	ATP5F1E, LOC130066277 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1985190	NM_006886.4(ATP5F1E):c.32+5G>T	ATP5F1E, LOC130066277 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915545	NM_006886.4(ATP5F1E):c.28C>T (p.Leu10Phe)	ATP5F1E, LOC130066277 +1 more (L10F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889547	NM_006886.4(ATP5F1E):c.23C>T (p.Ala8Val)	ATP5F1E, LOC130066277 +1 more (A8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888868	NM_006886.4(ATP5F1E):c.12C>T (p.Tyr4=)	LOC130066277, ATP5F1E +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214130	NM_006886.4(ATP5F1E):c.11A>C (p.Tyr4Ser)	ATP5F1E, LOC130066277 +1 more (Y4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672883	NM_006886.4(ATP5F1E):c.9C>T (p.Ala3=)	ATP5F1E, LOC130066277 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 136461	NM_006886.4(ATP5F1E):c.-7C>G	LOC130066277, SLMO2-ATP5E +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 136460	NM_006886.4(ATP5F1E):c.-25C>T	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 515011	NM_006886.4(ATP5F1E):c.-45G>A	ATP5F1E, LOC130066278 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 136459	NM_006886.4(ATP5F1E):c.-46C>T	ATP5F1E, LOC130066278 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 384695	NM_006886.4(ATP5F1E):c.-47C>T	ATP5F1E, LOC130066278 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1269045	NM_006886.4(ATP5F1E):c.-57G>A	ATP5F1E, LOC130066278 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1249837	NC_000020.11:g.59032394C>A	ATP5F1E, LOC130066278 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1318322	NC_000020.11:g.59032558_59032559dup	ATP5F1E, LOC130066278 +1 more	Duplication	not provided	GLikely benign
Select item 1246127	NC_000020.11:g.59032590G>C	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant	not provided	GBenign
Select item 1281188	NC_000020.11:g.59032613C>T	ATP5F1E, SLMO2-ATP5E	Single nucleotide variant	not provided	GBenign
Select item 3248275	NC_000020.10:g.(?_56993257)_(57967907_?)dup	APCDD1L, ATP5F1E +14 more	Duplication	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 55