"HPS6-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 880395	NM_024747.6(HPS6):c.-5G>A	HPS6, LOC130004578	Single nucleotide variant (5 prime UTR variant)	HPS6-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1898652	NM_024747.6(HPS6):c.30C>G (p.Leu10=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1452276	NM_024747.6(HPS6):c.60_64dup (p.Leu22fs)	HPS6, LOC130004578 (L22fs)	Microsatellite (frameshift variant)	HPS6-related disorder +2 more	GPathogenic
Select item 286495	NM_024747.6(HPS6):c.105T>C (p.Arg35=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	HPS6-related disorder +3 more	GBenign/Likely benign
Select item 3035200	NM_024747.6(HPS6):c.234G>T (p.Pro78=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	HPS6-related disorder	GLikely benign
Select item 282566	NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)	HPS6 (R113W)	Single nucleotide variant (missense variant)	HPS6-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2633370	NM_024747.6(HPS6):c.494T>C (p.Val165Ala)	HPS6 (V165A)	Single nucleotide variant (missense variant)	HPS6-related disorder	GUncertain significance
Select item 1561229	NM_024747.6(HPS6):c.510C>T (p.Pro170=)	HPS6	Single nucleotide variant (synonymous variant)	HPS6-related disorder +1 more	GLikely benign
Select item 1343707	NM_024747.6(HPS6):c.567T>G (p.Pro189=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 627122	NM_024747.6(HPS6):c.692C>G (p.Pro231Arg)	HPS6 (P231R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 627362	NM_024747.6(HPS6):c.706_707del (p.Ser236fs)	HPS6 (S236fs)	Microsatellite (frameshift variant)	HPS6-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2635847	NM_024747.6(HPS6):c.754del (p.Arg252fs)	HPS6 (R252fs)	Deletion (frameshift variant)	HPS6-related disorder	GLikely pathogenic
Select item 2904181	NM_024747.6(HPS6):c.838C>T (p.Leu280=)	HPS6	Single nucleotide variant (synonymous variant)	HPS6-related disorder +1 more	GLikely benign
Select item 2171684	NM_024747.6(HPS6):c.1084_1086dup (p.Gly362_Met363insGly)	HPS6	Duplication (inframe_insertion)	HPS6-related disorder +1 more	GUncertain significance
Select item 879246	NM_024747.6(HPS6):c.1152T>C (p.Phe384=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1550906	NM_024747.6(HPS6):c.1371C>T (p.Thr457=)	HPS6	Single nucleotide variant (synonymous variant)	HPS6-related disorder +1 more	GLikely benign
Select item 3008591	NM_024747.6(HPS6):c.1755G>A (p.Glu585=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 282222	NM_024747.6(HPS6):c.1779G>A (p.Pro593=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign