"PreventionGenetics, part of Exact Sciences"[submitter] AND "HIP1"[gen - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035260	NM_005338.7(HIP1):c.3036T>C (p.Ala1012=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GLikely benign
Select item 3041842	NM_005338.7(HIP1):c.3027C>T (p.Tyr1009=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GLikely benign
Select item 3055297	NM_005338.7(HIP1):c.2790C>T (p.Pro930=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GBenign
Select item 3040771	NM_005338.7(HIP1):c.2559+7G>A	HIP1	Single nucleotide variant (intron variant)	HIP1-related disorder	GLikely benign
Select item 3056008	NM_005338.7(HIP1):c.2496A>G (p.Gln832=)	HIP1	Single nucleotide variant (synonymous variant +1 more)	HIP1-related disorder	GBenign
Select item 789011	NM_005338.7(HIP1):c.2465+4G>A	HIP1	Single nucleotide variant (intron variant)	HIP1-related disorder +1 more	GBenign
Select item 218671	NM_005338.7(HIP1):c.2245G>A (p.Asp749Asn)	HIP1 (D749N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3050231	NM_005338.7(HIP1):c.2004C>T (p.Ile668=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GLikely benign
Select item 769719	NM_005338.7(HIP1):c.1530A>G (p.Lys510=)	HIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 729279	NM_005338.7(HIP1):c.1523G>A (p.Arg508Gln)	HIP1 (R508Q)	Single nucleotide variant (missense variant)	HIP1-related disorder +1 more	GBenign
Select item 773742	NM_005338.7(HIP1):c.1459C>A (p.Arg487=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder +1 more	GBenign
Select item 3043058	NM_005338.7(HIP1):c.1431G>A (p.Glu477=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GLikely benign
Select item 790598	NM_005338.7(HIP1):c.788T>A (p.Met263Lys)	HIP1 (M263K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 779918	NM_005338.7(HIP1):c.605-9A>G	HIP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 790599	NM_005338.7(HIP1):c.540C>T (p.Asn180=)	HIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3059356	NM_005338.7(HIP1):c.519T>C (p.Ala173=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GBenign
Select item 3040078	NM_005338.7(HIP1):c.405T>C (p.Tyr135=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GLikely benign
Select item 735886	NM_005338.7(HIP1):c.324G>A (p.Pro108=)	HIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3038523	NM_005338.7(HIP1):c.185C>T (p.Thr62Met)	HIP1 (T28M +2 more)	Single nucleotide variant (missense variant)	HIP1-related disorder	GBenign
Select item 3059341	NM_005338.7(HIP1):c.120+9G>A	HIP1, LOC129998676	Single nucleotide variant (intron variant)	HIP1-related disorder	GBenign
Select item 720809	NM_005338.7(HIP1):c.104G>C (p.Ser35Thr)	HIP1, LOC129998676 (S35T)	Single nucleotide variant (missense variant)	HIP1-related disorder +1 more	GBenign
Select item 3038236	NM_005338.7(HIP1):c.-4C>T	HIP1, LOC129998676	Single nucleotide variant (5 prime UTR variant)	HIP1-related disorder	GBenign

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Items: 22