"Ambry Genetics"[submitter] AND "HIRA"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105978	NM_003325.4(HIRA):c.2839G>T (p.Val947Leu)	HIRA (V947L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589680	NM_003325.4(HIRA):c.2828C>T (p.Ala943Val)	HIRA (A943V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105977	NM_003325.4(HIRA):c.2818C>T (p.Leu940Phe)	HIRA (L940F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105976	NM_003325.4(HIRA):c.2712C>G (p.Phe904Leu)	HIRA (F904L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105975	NM_003325.4(HIRA):c.2704C>T (p.Arg902Trp)	HIRA (R902W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302751	NM_003325.4(HIRA):c.2702C>T (p.Ala901Val)	HIRA (A901V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214156	NM_003325.4(HIRA):c.2686T>C (p.Ser896Pro)	HIRA (S896P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467768	NM_003325.4(HIRA):c.2654C>T (p.Pro885Leu)	HIRA (P885L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458210	NM_003325.4(HIRA):c.2546C>T (p.Pro849Leu)	HIRA (P849L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105973	NM_003325.4(HIRA):c.2521G>A (p.Asp841Asn)	HIRA (D841N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514547	NM_003325.4(HIRA):c.2468C>T (p.Thr823Met)	HIRA (T823M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325028	NM_003325.4(HIRA):c.2374G>A (p.Ala792Thr)	HIRA (A792T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204846	NM_003325.4(HIRA):c.2359G>A (p.Val787Ile)	HIRA (V787I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105972	NM_003325.4(HIRA):c.2311A>T (p.Ile771Phe)	HIRA (I771F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105971	NM_003325.4(HIRA):c.2281T>C (p.Ser761Pro)	HIRA (S761P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226394	NM_003325.4(HIRA):c.2240T>C (p.Val747Ala)	HIRA (V747A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285558	NM_003325.4(HIRA):c.2195C>T (p.Thr732Met)	HIRA (T732M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472901	NM_003325.4(HIRA):c.2174G>A (p.Arg725Gln)	HIRA (R725Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288472	NM_003325.4(HIRA):c.2159G>A (p.Arg720His)	HIRA (R720H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384314	NM_003325.4(HIRA):c.2146G>T (p.Val716Leu)	HIRA (V716L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339816	NM_003325.4(HIRA):c.2129T>C (p.Val710Ala)	HIRA (V710A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284345	NM_003325.4(HIRA):c.2080C>A (p.Leu694Ile)	HIRA (L694I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327702	NM_003325.4(HIRA):c.1960C>T (p.Pro654Ser)	HIRA (P654S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284343	NM_003325.4(HIRA):c.1896G>C (p.Glu632Asp)	HIRA (E632D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242425	NM_003325.4(HIRA):c.1891C>T (p.Leu631Phe)	HIRA (L631F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105969	NM_003325.4(HIRA):c.1814G>A (p.Arg605Gln)	HIRA (R605Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284344	NM_003325.4(HIRA):c.1643T>C (p.Leu548Ser)	HIRA (L548S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407197	NM_003325.4(HIRA):c.1615A>G (p.Met539Val)	HIRA (M539V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615069	NM_003325.4(HIRA):c.1561C>T (p.Pro521Ser)	HIRA (P521S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596728	NM_003325.4(HIRA):c.1540G>A (p.Ala514Thr)	HIRA (A514T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399022	NM_003325.4(HIRA):c.1450C>G (p.Leu484Val)	HIRA (L484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284342	NM_003325.4(HIRA):c.1357C>T (p.Arg453Trp)	HIRA (R453W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552939	NM_003325.4(HIRA):c.1256C>T (p.Ala419Val)	HIRA (A419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294800	NM_003325.4(HIRA):c.1153A>G (p.Ile385Val)	HIRA (I385V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724031	NM_003325.4(HIRA):c.1118G>A (p.Arg373His)	HIRA (R373H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2305861	NM_003325.4(HIRA):c.849G>C (p.Lys283Asn)	HIRA (K283N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611063	NM_003325.4(HIRA):c.777G>C (p.Lys259Asn)	HIRA (K259N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601923	NM_003325.4(HIRA):c.295C>T (p.Arg99Trp)	HIRA (R99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411124	NM_003325.4(HIRA):c.241A>G (p.Ser81Gly)	HIRA (S81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284346	NM_003325.4(HIRA):c.170A>T (p.Glu57Val)	HIRA (E57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 40