NTRK3-AS1[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 1264869	NM_001012338.3(NTRK3):c.248+320dup	NTRK3, NTRK3-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1234989	NM_001012338.3(NTRK3):c.248+325T>A	NTRK3, NTRK3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3301310	NM_001012338.3(NTRK3):c.148G>A (p.Asp50Asn)	NTRK3, NTRK3-AS1 (D50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202650	NM_001012338.3(NTRK3):c.148G>T (p.Asp50Tyr)	NTRK3, NTRK3-AS1 (D50Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202649	NM_001012338.3(NTRK3):c.140G>A (p.Arg47Gln)	NTRK3-AS1, NTRK3 (R47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299885	NM_001012338.3(NTRK3):c.137G>C (p.Arg46Pro)	NTRK3, NTRK3-AS1 (R46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534073	NM_001012338.3(NTRK3):c.131A>G (p.Asn44Ser)	NTRK3, NTRK3-AS1 (N44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740595	NM_001012338.3(NTRK3):c.84C>G (p.Ser28=)	NTRK3, NTRK3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2341419	NM_001012338.3(NTRK3):c.83C>T (p.Ser28Phe)	NTRK3, NTRK3-AS1 (S28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719029	NM_001012338.3(NTRK3):c.61G>T (p.Val21Phe)	NTRK3, NTRK3-AS1 (V21F)	Single nucleotide variant (missense variant)	NTRK3-related disorder +1 more	GLikely benign
Select item 2404388	NM_001012338.3(NTRK3):c.41G>A (p.Arg14Gln)	NTRK3, NTRK3-AS1 (R14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041033	NM_001012338.3(NTRK3):c.-1G>A	NTRK3, NTRK3-AS1	Single nucleotide variant (5 prime UTR variant)	NTRK3-related disorder	GLikely benign

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Items: 20