"PreventionGenetics, part of Exact Sciences"[submitter] AND "QRSL1"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720366	NM_018292.5(QRSL1):c.255G>A (p.Glu85=)	QRSL1	Single nucleotide variant (synonymous variant)	QRSL1-related disorder +1 more	GBenign
Select item 1599879	NM_018292.5(QRSL1):c.540G>A (p.Ser180=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2067982	NM_018292.5(QRSL1):c.678G>A (p.Ser226=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2044670	NM_018292.5(QRSL1):c.694A>G (p.Ile232Val)	QRSL1 (I232V)	Single nucleotide variant (missense variant)	QRSL1-related disorder +1 more	GBenign/Likely benign
Select item 2045813	NM_018292.5(QRSL1):c.777T>C (p.His259=)	QRSL1	Single nucleotide variant (synonymous variant)	QRSL1-related disorder +1 more	GLikely benign
Select item 1183485	NM_018292.5(QRSL1):c.788A>G (p.Asn263Ser)	QRSL1 (N263S)	Single nucleotide variant (missense variant)	QRSL1-related disorder +1 more	GBenign
Select item 2045127	NM_018292.5(QRSL1):c.789T>C (p.Asn263=)	QRSL1	Single nucleotide variant (synonymous variant)	QRSL1-related disorder +1 more	GBenign/Likely benign
Select item 2200714	NM_018292.5(QRSL1):c.863C>T (p.Pro288Leu)	QRSL1 (P288L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1600783	NM_018292.5(QRSL1):c.1063G>T (p.Val355Leu)	QRSL1 (V355L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1960624	NM_018292.5(QRSL1):c.1092C>A (p.Thr364=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1546543	NM_018292.5(QRSL1):c.1161A>C (p.Glu387Asp)	QRSL1 (E387D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2637402	NM_018292.5(QRSL1):c.1216_1218delinsTTT (p.Asp406Phe)	QRSL1 (D406F)	Indel (missense variant)	QRSL1-related disorder	GUncertain significance
Select item 1251173	NM_018292.5(QRSL1):c.1425G>A (p.Leu475=)	QRSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2720552	NM_018292.5(QRSL1):c.1515T>C (p.Leu505=)	QRSL1	Single nucleotide variant (synonymous variant)	QRSL1-related disorder +1 more	GLikely benign