ClinVar for Gene (Select 80194) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178792	NM_025124.4(TMEM134):c.579C>G (p.Phe193Leu)	TMEM134 (F184L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178791	NM_025124.4(TMEM134):c.524T>G (p.Ile175Ser)	TMEM134 (I160S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178789	NM_025124.4(TMEM134):c.416T>C (p.Leu139Pro)	TMEM134 (L130P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178788	NM_025124.4(TMEM134):c.197G>A (p.Gly66Glu)	TMEM134 (G66E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178787	NM_025124.4(TMEM134):c.173A>C (p.Gln58Pro)	TMEM134 (Q58P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178786	NM_025124.4(TMEM134):c.155A>G (p.Gln52Arg)	TMEM134 (Q52R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642020	NM_025124.4(TMEM134):c.250C>T (p.Arg84Ter)	TMEM134 (R84*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2615711	NM_025124.4(TMEM134):c.7G>T (p.Ala3Ser)	TMEM134 (A3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554781	NM_025124.4(TMEM134):c.77A>T (p.Glu26Val)	TMEM134 (E26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522911	NM_025124.4(TMEM134):c.262C>T (p.Arg88Cys)	TMEM134 (R88C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514425	NM_025124.4(TMEM134):c.561C>A (p.Phe187Leu)	TMEM134 (F172L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509921	NM_025124.4(TMEM134):c.539A>G (p.Lys180Arg)	TMEM134 (K171R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488077	NM_025124.4(TMEM134):c.272A>C (p.Gln91Pro)	TMEM134 (Q82P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2407325	NM_025124.4(TMEM134):c.169T>C (p.Tyr57His)	TMEM134 (Y57H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390735	NM_025124.4(TMEM134):c.479C>T (p.Pro160Leu)	TMEM134 (P145L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353036	NM_025124.4(TMEM134):c.307C>T (p.Arg103Cys)	TMEM134 (R94C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327628	NM_025124.4(TMEM134):c.268T>C (p.Ser90Pro)	TMEM134 (S81P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327188	NM_025124.4(TMEM134):c.499C>T (p.Pro167Ser)	TMEM134 (P167S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314076	NM_025124.4(TMEM134):c.61G>C (p.Gly21Arg)	TMEM134 (G21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258162	NM_025124.4(TMEM134):c.555C>A (p.Phe185Leu)	TMEM134 (F170L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216956	NM_025124.4(TMEM134):c.457T>G (p.Ser153Ala)	TMEM134 (S138A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563826	GRCh37/hg19 11q13.2(chr11:67161003-67349899)x1	TBC1D10C, GPR152 +12 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006205, LOC130006206 +282 more	Copy number loss	See cases	GPathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	ACY3, AIP +54 more	Copy number loss	See cases	GBenign
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	RIN1, RPS6KB2 +212 more	Copy number gain	See cases	GPathogenic
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 39