ClinVar for Gene (Select 7083) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326241	NM_003258.5(TK1):c.208C>T (p.Arg70Trp)	TK1 (R70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326240	NM_003258.5(TK1):c.452C>T (p.Ala151Val)	TK1 (A151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326239	NM_003258.5(TK1):c.25G>A (p.Val9Met)	TK1 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326238	NM_003258.5(TK1):c.449C>T (p.Thr150Met)	TK1 (T150M)	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 3177679	NM_003258.5(TK1):c.617G>T (p.Cys206Phe)	TK1 (C206F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177678	NM_003258.5(TK1):c.34G>A (p.Gly12Ser)	TK1 (G12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613783	NM_003258.5(TK1):c.140A>G (p.Gln47Arg)	TK1 (Q47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610945	NM_003258.5(TK1):c.577G>A (p.Ala193Thr)	TK1 (A193T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511951	NM_003258.5(TK1):c.245G>A (p.Arg82Gln)	TK1 (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511807	NM_003258.5(TK1):c.499G>A (p.Gly167Ser)	TK1 (G167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482932	NM_003258.5(TK1):c.218T>C (p.Met73Thr)	TK1 (M73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361627	NM_003258.5(TK1):c.490A>C (p.Lys164Gln)	TK1 (K164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347929	NM_003258.5(TK1):c.695C>T (p.Pro232Leu)	TK1 (P232L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301746	NM_003258.5(TK1):c.524T>C (p.Ile175Thr)	TK1 (I175T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279393	NM_003258.5(TK1):c.556C>T (p.Arg186Trp)	TK1 (R186W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238472	NM_003258.5(TK1):c.132G>C (p.Gln44His)	TK1 (Q44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235812	NM_003258.5(TK1):c.23C>T (p.Thr8Ile)	TK1 (T8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219465	NM_003258.5(TK1):c.462G>A (p.Met154Ile)	TK1 (M154I)	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 785585	NM_003258.5(TK1):c.594C>T (p.Ala198=)	TK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 91947	NM_003258.5(TK1):c.596G>T (p.Gly199Val)	TK1 (G199V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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