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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 714835	NM_003325.4(HIRA):c.2799C>T (p.His933=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder +1 more	GBenign
Select item 726549	NM_003325.4(HIRA):c.2561+9G>A	HIRA	Single nucleotide variant (intron variant)	HIRA-related disorder +1 more	GBenign
Select item 3040171	NM_003325.4(HIRA):c.2532G>A (p.Ala844=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder	GLikely benign
Select item 727503	NM_003325.4(HIRA):c.2439A>G (p.Leu813=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder +1 more	GBenign
Select item 3042367	NM_003325.4(HIRA):c.2396+8del	HIRA	Deletion (intron variant)	HIRA-related disorder	GBenign
Select item 751957	NM_003325.4(HIRA):c.2313C>T (p.Ile771=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder +1 more	GLikely benign
Select item 3046737	NM_003325.4(HIRA):c.2262A>G (p.Lys754=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder	GLikely benign
Select item 748038	NM_003325.4(HIRA):c.1794T>C (p.Leu598=)	HIRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3053062	NM_003325.4(HIRA):c.1741G>A (p.Ala581Thr)	HIRA (A581T)	Single nucleotide variant (missense variant)	HIRA-related disorder	GLikely benign
Select item 773095	NM_003325.4(HIRA):c.1614-3C>T	HIRA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 739956	NM_003325.4(HIRA):c.1539C>T (p.Gly513=)	HIRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 777553	NM_003325.4(HIRA):c.1467G>A (p.Ala489=)	HIRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 777663	NM_003325.4(HIRA):c.1392C>T (p.Leu464=)	HIRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3040266	NM_003325.4(HIRA):c.1386G>A (p.Thr462=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder	GLikely benign
Select item 715867	NM_003325.4(HIRA):c.1165G>A (p.Ala389Thr)	HIRA (A389T)	Single nucleotide variant (missense variant)	HIRA-related disorder +1 more	GBenign/Likely benign
Select item 788042	NM_003325.4(HIRA):c.1065C>G (p.Leu355=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder +1 more	GBenign
Select item 788043	NM_003325.4(HIRA):c.936+7C>G	HIRA	Single nucleotide variant (intron variant)	HIRA-related disorder +1 more	GBenign
Select item 3042950	NM_003325.4(HIRA):c.735C>T (p.Asn245=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder	GLikely benign
Select item 710905	NM_003325.4(HIRA):c.609G>A (p.Thr203=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder +1 more	GBenign/Likely benign
Select item 3047953	NM_003325.4(HIRA):c.587G>A (p.Arg196His)	HIRA (R196H)	Single nucleotide variant (missense variant)	HIRA-related disorder	GLikely benign
Select item 3042640	NM_003325.4(HIRA):c.38-12_38-10del	HIRA	Deletion (intron variant)	HIRA-related disorder	GLikely benign
Select item 1274354	NM_003325.4(HIRA):c.-21GGC[6]	HIRA	Microsatellite (5 prime UTR variant)	HIRA-related disorder +1 more	GBenign
Select item 3056979	NM_003325.4(HIRA):c.-21GGC[4]	HIRA	Microsatellite (5 prime UTR variant)	HIRA-related disorder	GLikely benign

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Items: 23