"GeneDx"[submitter] AND "TRAK1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57726	GRCh38/hg38 3p22.1(chr3:41880503-42550279)x3	CCK, LOC121009659 +36 more	Copy number gain	See cases	GUncertain significance
Select item 57727	GRCh38/hg38 3p22.1(chr3:41896597-42336619)x3	CCK, LOC121009659 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1702689	NM_001042646.3(TRAK1):c.281A>T (p.Tyr94Phe)	TRAK1 (Y94F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1723598	NM_001042646.3(TRAK1):c.620A>G (p.Tyr207Cys)	TRAK1 (Y103C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414258	NM_001042646.3(TRAK1):c.835C>T (p.Arg279Cys)	TRAK1 (R175C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3364749	NM_001042646.3(TRAK1):c.1508C>T (p.Ser503Phe)	TRAK1 (S399F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1702684	NM_001042646.3(TRAK1):c.1682G>C (p.Gly561Ala)	TRAK1 (G457A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442742	NM_001042646.3(TRAK1):c.1711C>G (p.Pro571Ala)	TRAK1 (P467A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1260505	NM_001042646.3(TRAK1):c.1963+101GGA[11]	TRAK1	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 2060893	NM_001042646.3(TRAK1):c.2371A>G (p.Thr791Ala)	TRAK1 (T770A +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1712567	NM_001042646.3(TRAK1):c.2482C>T (p.Arg828Cys)	TRAK1 (R703C +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1405233	NM_001042646.3(TRAK1):c.2747G>A (p.Arg916Gln)	TRAK1 (R821Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1281419	NM_001042646.3(TRAK1):c.2799T>C (p.Pro933=)	TRAK1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic