"Eurofins Ntd Llc (ga)"[submitter] AND "SIX3"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193313	NM_005413.4(SIX3):c.-2C>G	SIX3	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 593576	NM_005413.4(SIX3):c.105G>T (p.Gly35=)	SIX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 30381	NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)	SIX3 (G37C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 498633	NM_005413.4(SIX3):c.127G>T (p.Gly43Cys)	SIX3 (G43C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 502137	NM_005413.4(SIX3):c.168C>T (p.Gly56=)	SIX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 288987	NM_005413.4(SIX3):c.180C>T (p.Gly60=)	SIX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 193312	NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup)	SIX3	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 65493	NM_005413.4(SIX3):c.219C>T (p.Pro73=)	SIX3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 284060	NM_005413.4(SIX3):c.369G>A (p.Glu123=)	SIX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 284902	NM_005413.4(SIX3):c.375C>A (p.Ile125=)	SIX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 193311	NM_005413.4(SIX3):c.525G>A (p.Gln175=)	SIX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 598314	NM_005413.4(SIX3):c.594G>C (p.Pro198=)	SIX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 288767	NM_005413.4(SIX3):c.613G>C (p.Asp205His)	SIX3 (D205H)	Single nucleotide variant (missense variant)	Holoprosencephaly 2 +1 more	GUncertain significance
Select item 259762	NM_005413.4(SIX3):c.720G>T (p.Ala240=)	SIX3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 498484	NM_005413.4(SIX3):c.786C>A (p.Arg262=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2 +1 more	GConflicting classifications of pathogenicity
Select item 286061	NM_005413.4(SIX3):c.876C>G (p.Gly292=)	SIX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 167690	NM_005413.4(SIX3):c.942A>G (p.Ala314=)	SIX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 285308	NM_005413.4(SIX3):c.947C>T (p.Thr316Ile)	SIX3 (T316I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity