"PreventionGenetics, part of Exact Sciences"[submitter] AND "PAX6"[gen - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2078141	NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)	ELP4, PAX6 (P358L +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Aniridia 1 +2 more	GLikely benign
Select item 1625483	NM_001368894.2(PAX6):c.1236C>T (p.Ser412=)	ELP4, PAX6 (P212L +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Aniridia 1 +2 more	GBenign
Select item 258167	NM_001368894.2(PAX6):c.1215C>T (p.Thr405=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3036407	NM_001368894.2(PAX6):c.1074+140G>A	PAX6 (R391Q)	Single nucleotide variant (missense variant +1 more)	PAX6-related disorder	GUncertain significance
Select item 3043514	NM_001368894.2(PAX6):c.1074+138T>C	PAX6	Single nucleotide variant (synonymous variant +1 more)	PAX6-related disorder	GLikely benign
Select item 3037056	NM_001368894.2(PAX6):c.1074+114C>T	PAX6	Single nucleotide variant (synonymous variant +1 more)	PAX6-related disorder	GLikely benign
Select item 167416	NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1168979	NM_001368894.2(PAX6):c.959-7C>T	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +2 more	GBenign/Likely benign
Select item 258168	NM_001368894.2(PAX6):c.808-12C>T	PAX6	Single nucleotide variant (intron variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 372441	NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)	ELP4, PAX6 (R208W +9 more)	Single nucleotide variant (missense variant +1 more)	PAX6-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 3061451	NM_001368894.2(PAX6):c.609del (p.Ile204fs)	PAX6 (I123fs +8 more)	Deletion (frameshift variant +2 more)	PAX6-related disorder	GPathogenic
Select item 2922392	NM_001368894.2(PAX6):c.591G>A (p.Gly197=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +2 more	GLikely benign
Select item 771097	NM_001368894.2(PAX6):c.537G>C (p.Gly179=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Irido-corneo-trabecular dysgenesis +3 more	GLikely benign
Select item 2630880	NM_001368894.2(PAX6):c.458C>T (p.Ala153Val)	PAX6 (A139V +8 more)	Single nucleotide variant (missense variant +1 more)	PAX6-related disorder	GUncertain significance
Select item 798151	NM_001368894.2(PAX6):c.400-15_400-5del	PAX6	Microsatellite (intron variant)	PAX6-related disorder +2 more	GLikely benign
Select item 92758	NM_001368894.2(PAX6):c.399+1G>A	PAX6	Single nucleotide variant (splice donor variant +2 more)	not provided +3 more	GPathogenic
Select item 2636324	NM_001368894.2(PAX6):c.199G>A (p.Val67Met)	PAX6 (V134M +5 more)	Single nucleotide variant (missense variant +3 more)	PAX6-related disorder	GUncertain significance
Select item 3045361	NM_001368894.2(PAX6):c.173A>G (p.Asp58Gly)	PAX6 (D58G +2 more)	Single nucleotide variant (missense variant +3 more)	PAX6-related disorder	GUncertain significance
Select item 92757	NM_001368894.2(PAX6):c.130C>A (p.Arg44=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	PAX6-related disorder +3 more	GBenign/Likely benign
Select item 1217729	NM_001368894.2(PAX6):c.-118T>C	PAX6	Single nucleotide variant (5 prime UTR variant +2 more)	Aniridia 1 +3 more	GLikely benign
Select item 218438	NM_001368894.2(PAX6):c.-129+9G>A	PAX6	Single nucleotide variant (intron variant)	not provided +9 more	GBenign/Likely benign
Select item 559615	NM_001368894.2(PAX6):c.-129+1G>A	PAX6	Single nucleotide variant (splice donor variant)	PAX6-related disorder +1 more	GPathogenic

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Items: 22