ClinVar for Gene (Select 283999) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326996	NM_001395503.1(TMEM235):c.497A>G (p.His166Arg)	TMEM235 (H166R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 3179233	NM_001395503.1(TMEM235):c.92G>C (p.Trp31Ser)	TMEM235 (W31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179232	NM_001395503.1(TMEM235):c.452C>T (p.Ser151Leu)	TMEM235 (S124L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179231	NM_001395503.1(TMEM235):c.277C>T (p.His93Tyr)	TMEM235 (H121Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179230	NM_001395503.1(TMEM235):c.209C>G (p.Pro70Arg)	TMEM235 (P70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601120	NM_001395503.1(TMEM235):c.544T>C (p.Trp182Arg)	TMEM235 (W235R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535430	NM_001395503.1(TMEM235):c.508G>A (p.Val170Ile)	TMEM235 (V170I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515839	NM_001395503.1(TMEM235):c.602C>T (p.Thr201Ile)	TMEM235 (T128I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469529	NM_001395503.1(TMEM235):c.568T>C (p.Phe190Leu)	TMEM235 (F289L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468096	NM_001395503.1(TMEM235):c.512G>C (p.Arg171Pro)	TMEM235 (R270P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408885	NM_001395503.1(TMEM235):c.124G>A (p.Gly42Ser)	TMEM235 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373186	NM_001395503.1(TMEM235):c.280C>T (p.Arg94Cys)	TMEM235 (R67C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349567	NM_001395503.1(TMEM235):c.467C>T (p.Ala156Val)	TMEM235 (A156V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347218	NM_001395503.1(TMEM235):c.641C>T (p.Pro214Leu)	TMEM235 (P141L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311087	NM_001395503.1(TMEM235):c.244G>A (p.Val82Ile)	TMEM235 (V82I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306438	NM_001395503.1(TMEM235):c.199G>A (p.Gly67Ser)	TMEM235 (G67S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2305917	NM_001395503.1(TMEM235):c.322G>A (p.Val108Met)	TMEM235 (V136M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305232	NM_001395503.1(TMEM235):c.229A>G (p.Ser77Gly)	TMEM235 (S77G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294135	NM_001395503.1(TMEM235):c.548G>T (p.Gly183Val)	TMEM235 (G236V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 150705	GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1	AFMID, BIRC5 +82 more	Copy number loss	See cases	GLikely benign
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34