HIRA[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154903	GRCh38/hg38 22q11.21(chr22:19329591-19332293)x3	HIRA	Copy number gain	See cases	GUncertain significance
Select item 150639	GRCh38/hg38 22q11.21(chr22:19329832-19332293)x3	HIRA	Copy number gain	See cases	GLikely benign
Select item 1246924	NM_003325.4(HIRA):c.*51G>A	HIRA	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3062347	GRCh38/hg38 22q11.21(chr22:19334035-19430073)	HIRA	Copy number gain	Phelan-McDermid syndrome	GUncertain significance
Select item 721166	NM_003325.4(HIRA):c.2895G>A (p.Pro965=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 738599	NM_003325.4(HIRA):c.2839G>A (p.Val947Ile)	HIRA (V947I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719054	NM_003325.4(HIRA):c.2829A>G (p.Ala943=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 714835	NM_003325.4(HIRA):c.2799C>T (p.His933=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738518	NM_003325.4(HIRA):c.2721T>C (p.Pro907=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 713436	NM_003325.4(HIRA):c.2655G>A (p.Pro885=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 750551	NM_003325.4(HIRA):c.2574T>G (p.Ser858=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726549	NM_003325.4(HIRA):c.2561+9G>A	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
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 3040171	NM_003325.4(HIRA):c.2532G>A (p.Ala844=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder	GLikely benign
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 751981	NM_003325.4(HIRA):c.2520C>T (p.Ser840=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764911	NM_003325.4(HIRA):c.2490G>A (p.Thr830=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1235925	NM_003325.4(HIRA):c.2456-117G>T	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745901	NM_003325.4(HIRA):c.2455+8A>G	HIRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727503	NM_003325.4(HIRA):c.2439A>G (p.Leu813=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1181805	NM_003325.4(HIRA):c.2397-70G>A	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042367	NM_003325.4(HIRA):c.2396+8del	HIRA	Deletion (intron variant)	HIRA-related disorder	GBenign
Select item 3349136	NM_003325.4(HIRA):c.2396+2T>G	HIRA	Single nucleotide variant (splice donor variant)	HIRA-related disorder	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 751957	NM_003325.4(HIRA):c.2313C>T (p.Ile771=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2652862	NM_003325.4(HIRA):c.2283C>T (p.Ser761=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3046737	NM_003325.4(HIRA):c.2262A>G (p.Lys754=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder	GLikely benign
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 1294749	NM_003325.4(HIRA):c.2234+24C>T	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 795945	NM_003325.4(HIRA):c.2229C>A (p.Gly743=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2652863	NM_003325.4(HIRA):c.2168G>A (p.Cys723Tyr)	HIRA (C723Y)	Single nucleotide variant (missense variant)	not provided	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 1270516	NM_003325.4(HIRA):c.2085+117A>G	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748855	NM_003325.4(HIRA):c.2085+8C>G	HIRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1253219	NM_003325.4(HIRA):c.1981-42T>C	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
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 775447	NM_003325.4(HIRA):c.1908G>A (p.Glu636=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3250912	NM_003325.4(HIRA):c.1812C>G (p.Pro604=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748038	NM_003325.4(HIRA):c.1794T>C (p.Leu598=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1271969	NM_003325.4(HIRA):c.1776-136C>G	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
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 747349	NM_003325.4(HIRA):c.1668G>C (p.Pro556=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 773095	NM_003325.4(HIRA):c.1614-3C>T	HIRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230638	NM_003325.4(HIRA):c.1613+106A>G	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
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 739956	NM_003325.4(HIRA):c.1539C>T (p.Gly513=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777553	NM_003325.4(HIRA):c.1467G>A (p.Ala489=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3345230	NM_003325.4(HIRA):c.1444A>G (p.Ile482Val)	HIRA (I482V)	Single nucleotide variant (missense variant)	HIRA-related disorder	GUncertain significance
Select item 1288983	NM_003325.4(HIRA):c.1415+91G>A	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777663	NM_003325.4(HIRA):c.1392C>T (p.Leu464=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	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 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 715867	NM_003325.4(HIRA):c.1165G>A (p.Ala389Thr)	HIRA (A389T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 provided +1 more	GConflicting classifications of pathogenicity
Select item 788042	NM_003325.4(HIRA):c.1065C>G (p.Leu355=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745585	NM_003325.4(HIRA):c.1047C>T (p.Asp349=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1257714	NM_003325.4(HIRA):c.1008-131_1008-114del	HIRA	Deletion (intron variant)	not provided	GBenign
Select item 1291789	NM_003325.4(HIRA):c.1008-159C>G	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253056	NM_003325.4(HIRA):c.937-47G>A	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179633	NM_003325.4(HIRA):c.936+69A>C	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788043	NM_003325.4(HIRA):c.936+7C>G	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
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 161612	NM_003325.4(HIRA):c.820G>A (p.Val274Met)	HIRA (V274M)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	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 3042950	NM_003325.4(HIRA):c.735C>T (p.Asn245=)	HIRA	Single nucleotide variant (synonymous variant)	HIRA-related disorder	GLikely benign
Select item 745274	NM_003325.4(HIRA):c.699T>C (p.Asp233=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710905	NM_003325.4(HIRA):c.609G>A (p.Thr203=)	HIRA	Single nucleotide variant (synonymous variant)	not provided	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 1273006	NM_003325.4(HIRA):c.494-119G>C	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 1281616	NM_003325.4(HIRA):c.100+84A>G	HIRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3233393	NM_003325.4(HIRA):c.41A>G (p.Lys14Arg)	HIRA (K14R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group T	GUncertain significance

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