"HPS4-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052722	NM_022081.6(HPS4):c.*39A>G	HPS4 (K642E)	Single nucleotide variant (3 prime UTR variant +3 more)	HPS4-related disorder	GLikely benign
Select item 194428	NM_022081.6(HPS4):c.*5C>T	HPS4	Single nucleotide variant (3 prime UTR variant +3 more)	HPS4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 211152	NM_022081.6(HPS4):c.2079C>T (p.Ser693=)	HPS4 (R613W)	Single nucleotide variant (synonymous variant +3 more)	not specified +3 more	GBenign/Likely benign
Select item 289851	NM_022081.6(HPS4):c.1857G>A (p.Pro619=)	HPS4	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 341002	NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)	HPS4 (A562V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 901043	NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu)	HPS4 (P560L +2 more)	Single nucleotide variant (missense variant +1 more)	HPS4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1935376	NM_022081.6(HPS4):c.1614C>T (p.Leu538=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 281320	NM_022081.6(HPS4):c.1222G>A (p.Ala408Thr)	HPS4 (A403T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2883656	NM_022081.6(HPS4):c.1221C>T (p.Ser407=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	HPS4-related disorder +1 more	GLikely benign
Select item 341010	NM_022081.6(HPS4):c.1192A>C (p.Arg398=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1594023	NM_022081.6(HPS4):c.1177C>T (p.Pro393Ser)	HPS4 (P388S +2 more)	Single nucleotide variant (missense variant +1 more)	HPS4-related disorder +1 more	GBenign/Likely benign
Select item 903530	NM_022081.6(HPS4):c.1014C>T (p.Pro338=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	HPS4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3029587	NM_022081.6(HPS4):c.706+125A>G	HPS4 (K237R)	Single nucleotide variant (missense variant +2 more)	HPS4-related disorder	GLikely benign
Select item 3043925	NM_022081.6(HPS4):c.706+119T>C	HPS4	Single nucleotide variant (intron variant)	HPS4-related disorder	GLikely benign
Select item 708993	NM_022081.6(HPS4):c.704A>G (p.His235Arg)	HPS4 (H230R +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 3050233	NM_022081.6(HPS4):c.670-4T>G	HPS4	Single nucleotide variant (intron variant)	HPS4-related disorder	GLikely benign
Select item 1942222	NM_022081.6(HPS4):c.609C>G (p.Thr203=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 903599	NM_022081.6(HPS4):c.593G>A (p.Gly198Glu)	HPS4 (G198E +1 more)	Single nucleotide variant (missense variant +1 more)	HPS4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 281318	NM_022081.6(HPS4):c.557C>T (p.Ser186Leu)	HPS4 (S181L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2412667	NM_022081.6(HPS4):c.554G>A (p.Arg185His)	HPS4 (R185H +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 4 +1 more	GUncertain significance
Select item 1153916	NM_022081.6(HPS4):c.445A>G (p.Asn149Asp)	HPS4 (N144D +1 more)	Single nucleotide variant (missense variant +1 more)	HPS4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 666701	NM_022081.6(HPS4):c.320G>T (p.Arg107Leu)	HPS4 (R102L +1 more)	Single nucleotide variant (missense variant +1 more)	HPS4-related disorder +2 more	GLikely benign
Select item 1104274	NM_022081.6(HPS4):c.190G>A (p.Val64Ile)	HPS4 (V59I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2081142	NM_022081.6(HPS4):c.150G>A (p.Gln50=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 900002	NM_022081.6(HPS4):c.133-6C>T	HPS4	Single nucleotide variant (intron variant)	HPS4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 341024	NM_022081.6(HPS4):c.15C>T (p.Thr5=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 498641	NM_022081.6(HPS4):c.13A>G (p.Thr5Ala)	HPS4 (T5A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 27