histone 1, H2ag - ClinVar - NCBI

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The following term was not found in ClinVar: H2ag.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 208751	NM_004964.3(HDAC1):c.461A>G (p.Asn154Ser)	HDAC1 (N154S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3283670	NM_004964.3(HDAC1):c.495G>A (p.Lys165=)	HDAC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2543631	NM_004964.3(HDAC1):c.539G>A (p.Gly180Asp)	HDAC1 (G180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784440	NM_004964.3(HDAC1):c.564C>T (p.Tyr188=)	HDAC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716272	NM_004964.3(HDAC1):c.702C>T (p.Asp234=)	HDAC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3104549	NM_004964.3(HDAC1):c.710A>G (p.Tyr237Cys)	HDAC1 (Y237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281034	NM_004964.3(HDAC1):c.868A>T (p.Ser290Cys)	HDAC1 (S290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283671	NM_004964.3(HDAC1):c.929G>A (p.Arg310Gln)	HDAC1 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378557	NM_004964.3(HDAC1):c.1162G>A (p.Ala388Thr)	HDAC1 (A388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104545	NM_004964.3(HDAC1):c.1189G>A (p.Asp397Asn)	HDAC1 (D397N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104547	NM_004964.3(HDAC1):c.1238G>A (p.Arg413Gln)	HDAC1 (R413Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033900	NM_004964.3(HDAC1):c.1263C>T (p.Ser421=)	HDAC1	Single nucleotide variant (synonymous variant)	HDAC1-related disorder	GLikely benign
Select item 3104548	NM_004964.3(HDAC1):c.1327G>C (p.Val443Leu)	HDAC1 (V443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283669	NM_004964.3(HDAC1):c.1381G>A (p.Glu461Lys)	HDAC1 (E461K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385326	NM_004964.3(HDAC1):c.1418A>G (p.Lys473Arg)	HDAC1 (K473R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318998	NM_004964.3(HDAC1):c.1433A>T (p.Glu478Val)	HDAC1 (E478V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	BCL9, LINC00623 +213 more	Copy number gain	See cases	GPathogenic
Select item 145983	GRCh38/hg38 1p13.2-11.2(chr1:121086594-144935242)x3	FAM72B, FAM72C +42 more	Copy number gain	See cases	GPathogenic
Select item 58087	GRCh38/hg38 1p12-q21.2(chr1:121086594-144935242)x3	FAM72B, FAM72C +42 more	Copy number gain	See cases	GPathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	LOC129931352, LOC129931353 +183 more	Copy number loss	See cases	GPathogenic
Select item 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +179 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +178 more	Copy number gain	See cases	GPathogenic
Select item 146706	GRCh38/hg38 1q21.1-21.2(chr1:143515074-144625016)x1	FAM72C, H3-7 +25 more	Copy number loss	See cases	GBenign
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	LOC126805854, LOC128071544 +179 more	Copy number loss	See cases	GPathogenic
Select item 2639144	NM_001372105.2(H3-7):c.165T>C (p.Tyr55=)	H3-7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639145	NM_001372105.2(H3-7):c.12T>C (p.Thr4=)	H3-7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769529	NM_000566.4(FCGR1A):c.21G>A (p.Leu7=)	H2BC18, FCGR1A	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 790487	NM_000566.4(FCGR1A):c.114C>T (p.Thr38=)	FCGR1A, H2BC18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2493732	NM_000566.4(FCGR1A):c.190C>G (p.Gln64Glu)	FCGR1A, H2BC18 (Q41E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 14826	NM_000566.4(FCGR1A):c.274C>T (p.Arg92Ter)	FCGR1A, H2BC18 (R92* +3 more)	Single nucleotide variant (nonsense +2 more)	IGG receptor I, phagocytic, familial deficiency of	GPathogenic
Select item 3094054	NM_000566.4(FCGR1A):c.523C>T (p.Arg175Cys)	FCGR1A, H2BC18 (R176C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402945	NM_000566.4(FCGR1A):c.670C>A (p.Gln224Lys)	FCGR1A, H2BC18 (Q139K +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 691503	NM_000566.4(FCGR1A):c.736C>T (p.Gln246Ter)	FCGR1A, H2BC18 (Q246* +6 more)	Single nucleotide variant (nonsense +2 more)	Peritoneal Gliomatosis	GUncertain significance
Select item 3094055	NM_000566.4(FCGR1A):c.814C>T (p.Arg272Cys)	FCGR1A, H2BC18 (R188C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520263	NM_000566.4(FCGR1A):c.829G>C (p.Glu277Gln)	FCGR1A, H2BC18 (E193Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094056	NM_000566.4(FCGR1A):c.831G>C (p.Glu277Asp)	FCGR1A, H2BC18 (E192D +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361340	NM_000566.4(FCGR1A):c.905T>C (p.Met302Thr)	FCGR1A, H2BC18 (M193T +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279690	NM_000566.4(FCGR1A):c.906G>A (p.Met302Ile)	FCGR1A, H2BC18 (M218I +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2511294	NM_000566.4(FCGR1A):c.935C>A (p.Thr312Lys)	FCGR1A, H2BC18 (T203K +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222157	NM_000566.4(FCGR1A):c.940C>T (p.Arg314Cys)	FCGR1A, H2BC18 (R205C +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1285171	NM_000566.4(FCGR1A):c.1013T>C (p.Ile338Thr)	FCGR1A, H2BC18 (I229T +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2318316	NM_000566.4(FCGR1A):c.1021C>T (p.Leu341Phe)	FCGR1A, H2BC18 (L318F +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 734579	NM_000566.4(FCGR1A):c.1072GAA[1] (p.Glu359del)	FCGR1A, H2BC18 (E359del +8 more)	Microsatellite (inframe_indel +3 more)	not provided	GBenign
Select item 2537094	NM_000566.4(FCGR1A):c.1091G>T (p.Gly364Val)	FCGR1A, H2BC18 (G272V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531971	NM_000566.4(FCGR1A):c.1093G>T (p.Val365Leu)	FCGR1A, H2BC18 (V273L +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306575	NM_000566.4(FCGR1A):c.1105G>C (p.Glu369Gln)	FCGR1A, H2BC18 (E346Q +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3235315	NM_001024599.5(H2BC18):c.338C>A (p.Ser113Tyr)	H2BC18 (S113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235314	NM_001024599.5(H2BC18):c.145G>A (p.Val49Ile)	H2BC18 (V49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103934	NM_001123375.3(H3C13):c.370G>A (p.Asp124Asn)	H3C13 (D124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103933	NM_001123375.3(H3C13):c.329T>A (p.Leu110Gln)	H3C13, LOC129931372 (L110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103932	NM_001123375.3(H3C13):c.262T>C (p.Ser88Pro)	H3C13, LOC129931372 (S88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588885	NM_001123375.3(H3C13):c.240G>C (p.Lys80Asn)	H3C13, LOC129931372 (K80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283357	NM_001123375.3(H3C13):c.230A>T (p.Gln77Leu)	H3C13, LOC129931372 (Q77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103931	NM_001123375.3(H3C13):c.209G>A (p.Arg70Gln)	H3C13, LOC129931372 (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791809	NM_001123375.3(H3C13):c.198G>A (p.Leu66=)	H3C13, LOC129931372	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719341	NM_001123375.3(H3C13):c.174T>C (p.Ser58=)	H3C13, LOC129931372	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3283358	NM_001123375.3(H3C13):c.116C>T (p.Pro39Leu)	H3C13, LOC129931372 (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556495	NM_001123375.3(H3C13):c.67A>G (p.Thr23Ala)	H3C13, LOC129931372 (T23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 3103800	NM_003528.3(H2BC21):c.285C>G (p.Ile95Met)	H2BC21, LOC129931375 (I95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283330	NM_003528.3(H2BC21):c.226G>C (p.Gly76Arg)	H2BC21, LOC129931375 (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618853	NM_003528.3(H2BC21):c.178A>G (p.Met60Val)	H2BC21, LOC129931375 (M60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103804	NM_003528.3(H2BC21):c.94C>T (p.Arg32Cys)	H2BC21, LOC129931375 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103803	NM_003528.3(H2BC21):c.92A>G (p.Lys31Arg)	H2BC21, LOC129931375 (K31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103802	NM_003528.3(H2BC21):c.79G>T (p.Gly27Cys)	H2BC21, LOC129931375 (G27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103801	NM_003528.3(H2BC21):c.64G>C (p.Ala22Pro)	H2BC21, LOC129931375 (A22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484574	NM_003528.3(H2BC21):c.10C>G (p.Pro4Ala)	H2BC21 (P4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103723	NM_003517.3(H2AC20):c.7G>A (p.Gly3Ser)	H2AC20, LOC129931376 (G3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103722	NM_003517.3(H2AC20):c.107G>A (p.Arg36His)	H2AC20 (R36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103725	NM_175065.3(H2AC21):c.376C>T (p.Pro126Ser)	H2AC21 (P126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639146	NM_175065.3(H2AC21):c.189T>C (p.Ile63=)	H2AC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639147	NM_175065.3(H2AC21):c.186A>G (p.Glu62=)	H2AC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639148	NM_175065.3(H2AC21):c.183G>C (p.Ala61=)	H2AC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103724	NM_175065.3(H2AC21):c.146C>G (p.Pro49Arg)	H2AC21, LOC129931379 (P49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639149	NM_175065.3(H2AC21):c.138A>C (p.Ala46=)	H2AC21, LOC129931379	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639150	NM_175065.3(H2AC21):c.132C>G (p.Val44=)	H2AC21, LOC129931379	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103727	NM_175065.3(H2AC21):c.78C>G (p.Phe26Leu)	H2AC21, LOC129931379 (F26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639151	NM_175065.3(H2AC21):c.69T>C (p.Gly23=)	H2AC21, LOC129931379	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533548	NM_175065.3(H2AC21):c.65C>T (p.Ala22Val)	H2AC21, LOC129931379 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103726	NM_175065.3(H2AC21):c.38C>T (p.Ala13Val)	H2AC21, LOC129931379 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553498	NM_175065.3(H2AC21):c.32C>T (p.Ala11Val)	H2AC21, LOC129931379 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779065	NM_001366418.1(SETDB1):c.261-3T>C	SETDB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 746399	NM_001366418.1(SETDB1):c.315A>G (p.Leu105=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723281	NM_001366418.1(SETDB1):c.413-9C>T	SETDB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3067530	NM_001366418.1(SETDB1):c.427A>C (p.Arg143=)	SETDB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3067292	NM_001366418.1(SETDB1):c.447+3A>G	SETDB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2269939	NM_001366418.1(SETDB1):c.486A>C (p.Gln162His)	SETDB1 (Q162H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741008	NM_001366418.1(SETDB1):c.552C>T (p.Thr184=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740663	NM_001366418.1(SETDB1):c.651C>G (p.Thr217=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623703	NM_001366418.1(SETDB1):c.674-2A>G	SETDB1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 724032	NM_001366418.1(SETDB1):c.723A>G (p.Leu241=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298861	NM_001366418.1(SETDB1):c.779T>C (p.Val260Ala)	SETDB1 (V260A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403884	NM_001366418.1(SETDB1):c.946C>G (p.Pro316Ala)	SETDB1 (P316A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 741352	NM_001366418.1(SETDB1):c.960T>C (p.Thr320=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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