ClinVar for Gene (Select 55127) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	LGALS8, LNCATV +21 more	Duplication	not provided	GUncertain significance
Select item 3247621	NC_000001.10:g.(?_235275379)_(236899040_?)del	EDARADD, ERO1B +13 more	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3104778	NM_018072.6(HEATR1):c.973T>C (p.Cys325Arg)	HEATR1 (C325R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104777	NM_018072.6(HEATR1):c.800A>G (p.Gln267Arg)	HEATR1 (Q267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104776	NM_018072.6(HEATR1):c.706G>C (p.Asp236His)	HEATR1 (D236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104774	NM_018072.6(HEATR1):c.6383C>A (p.Thr2128Asn)	HEATR1, LGALS8 (T2128N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104772	NM_018072.6(HEATR1):c.5653G>C (p.Asp1885His)	HEATR1 (D1885H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104771	NM_018072.6(HEATR1):c.5645C>T (p.Ser1882Phe)	HEATR1 (S1882F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104770	NM_018072.6(HEATR1):c.5479A>G (p.Lys1827Glu)	HEATR1 (K1827E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104769	NM_018072.6(HEATR1):c.5306A>G (p.Glu1769Gly)	HEATR1 (E1769G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104768	NM_018072.6(HEATR1):c.5299G>A (p.Val1767Ile)	HEATR1 (V1767I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104767	NM_018072.6(HEATR1):c.4907C>A (p.Thr1636Lys)	HEATR1 (T1636K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104766	NM_018072.6(HEATR1):c.4439C>A (p.Thr1480Asn)	HEATR1 (T1480N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104765	NM_018072.6(HEATR1):c.4303G>A (p.Glu1435Lys)	HEATR1 (E1435K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104764	NM_018072.6(HEATR1):c.4096A>G (p.Ile1366Val)	HEATR1 (I1366V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104763	NM_018072.6(HEATR1):c.3618A>T (p.Arg1206Ser)	HEATR1 (R1206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104762	NM_018072.6(HEATR1):c.3274A>G (p.Thr1092Ala)	HEATR1 (T1092A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104761	NM_018072.6(HEATR1):c.3148A>G (p.Thr1050Ala)	HEATR1 (T1050A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104760	NM_018072.6(HEATR1):c.3145C>T (p.Pro1049Ser)	HEATR1 (P1049S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104759	NM_018072.6(HEATR1):c.3010C>T (p.Leu1004Phe)	HEATR1 (L1004F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104758	NM_018072.6(HEATR1):c.2915A>G (p.Tyr972Cys)	HEATR1 (Y972C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104756	NM_018072.6(HEATR1):c.2790C>T (p.Pro930=)	HEATR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3104755	NM_018072.6(HEATR1):c.2387T>G (p.Phe796Cys)	HEATR1 (F796C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104754	NM_018072.6(HEATR1):c.2357C>T (p.Ser786Leu)	HEATR1 (S786L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104753	NM_018072.6(HEATR1):c.2311T>C (p.Tyr771His)	HEATR1 (Y771H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104752	NM_018072.6(HEATR1):c.2303G>C (p.Trp768Ser)	HEATR1 (W768S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104751	NM_018072.6(HEATR1):c.2090A>G (p.Asn697Ser)	HEATR1 (N697S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104749	NM_018072.6(HEATR1):c.182C>T (p.Ser61Phe)	HEATR1 (S61F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 3063299	GRCh37/hg19 1q42.3-43(chr1:236221501-237380903)x3	ACTN2, EDARADD +8 more	Copy number gain	not specified	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2640107	NM_018072.6(HEATR1):c.1296A>G (p.Leu432=)	HEATR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640106	NM_018072.6(HEATR1):c.3237G>A (p.Pro1079=)	HEATR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640105	NM_018072.6(HEATR1):c.4888A>G (p.Asn1630Asp)	HEATR1 (N1630D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2619460	NM_018072.6(HEATR1):c.4655A>G (p.Glu1552Gly)	HEATR1 (E1552G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603862	NM_018072.6(HEATR1):c.5080A>G (p.Asn1694Asp)	HEATR1 (N1694D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599817	NM_018072.6(HEATR1):c.6172G>A (p.Asp2058Asn)	HEATR1 (D2058N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598600	NM_018072.6(HEATR1):c.2499T>G (p.Phe833Leu)	HEATR1 (F833L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597166	NM_018072.6(HEATR1):c.4919G>A (p.Arg1640His)	HEATR1 (R1640H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595413	NM_018072.6(HEATR1):c.4114G>A (p.Val1372Ile)	HEATR1 (V1372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592280	NM_018072.6(HEATR1):c.2173T>C (p.Phe725Leu)	HEATR1 (F725L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590232	NM_018072.6(HEATR1):c.6184T>C (p.Trp2062Arg)	HEATR1 (W2062R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2568847	NM_018072.6(HEATR1):c.4618C>T (p.Pro1540Ser)	HEATR1 (P1540S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553297	NM_018072.6(HEATR1):c.6152A>G (p.Gln2051Arg)	HEATR1 (Q2051R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551599	NM_018072.6(HEATR1):c.2791G>A (p.Val931Ile)	HEATR1 (V931I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551408	NM_018072.6(HEATR1):c.4339T>G (p.Trp1447Gly)	HEATR1 (W1447G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549867	NM_018072.6(HEATR1):c.944G>A (p.Ser315Asn)	HEATR1 (S315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545459	NM_018072.6(HEATR1):c.5941T>G (p.Ser1981Ala)	HEATR1 (S1981A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539467	NM_018072.6(HEATR1):c.352A>G (p.Ile118Val)	HEATR1 (I118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539465	NM_018072.6(HEATR1):c.190C>G (p.Gln64Glu)	HEATR1 (Q64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533357	NM_018072.6(HEATR1):c.5001A>T (p.Arg1667Ser)	HEATR1 (R1667S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530258	NM_018072.6(HEATR1):c.5264T>C (p.Val1755Ala)	HEATR1 (V1755A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525594	NM_018072.6(HEATR1):c.1048A>T (p.Met350Leu)	HEATR1 (M350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524918	NM_018072.6(HEATR1):c.2962A>G (p.Lys988Glu)	HEATR1 (K988E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522851	NM_018072.6(HEATR1):c.3076A>G (p.Asn1026Asp)	HEATR1 (N1026D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517316	NM_018072.6(HEATR1):c.6095G>C (p.Gly2032Ala)	HEATR1 (G2032A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515448	NM_018072.6(HEATR1):c.4733G>A (p.Arg1578His)	HEATR1 (R1578H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512107	NM_018072.6(HEATR1):c.3304A>T (p.Ile1102Phe)	HEATR1 (I1102F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492560	NM_018072.6(HEATR1):c.3485G>A (p.Arg1162Gln)	HEATR1 (R1162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492233	NM_018072.6(HEATR1):c.1646G>T (p.Ser549Ile)	HEATR1 (S549I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488378	NM_018072.6(HEATR1):c.4441A>T (p.Ile1481Phe)	HEATR1 (I1481F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473629	NM_018072.6(HEATR1):c.4849C>T (p.Arg1617Cys)	HEATR1 (R1617C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473346	NM_018072.6(HEATR1):c.3107C>G (p.Pro1036Arg)	HEATR1 (P1036R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469601	NM_018072.6(HEATR1):c.4754A>G (p.Tyr1585Cys)	HEATR1 (Y1585C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467397	NM_018072.6(HEATR1):c.5473G>A (p.Ala1825Thr)	HEATR1 (A1825T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467222	NM_018072.6(HEATR1):c.5675C>T (p.Thr1892Met)	HEATR1 (T1892M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466234	NM_018072.6(HEATR1):c.1859A>G (p.Lys620Arg)	HEATR1 (K620R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455990	NM_018072.6(HEATR1):c.3293G>A (p.Gly1098Glu)	HEATR1 (G1098E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454359	NM_018072.6(HEATR1):c.5717A>G (p.Lys1906Arg)	HEATR1 (K1906R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412127	NM_018072.6(HEATR1):c.1072A>G (p.Ile358Val)	HEATR1 (I358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411499	NM_018072.6(HEATR1):c.2653G>A (p.Val885Met)	HEATR1 (V885M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411181	NM_018072.6(HEATR1):c.3595G>A (p.Val1199Ile)	HEATR1 (V1199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411053	NM_018072.6(HEATR1):c.2905G>A (p.Asp969Asn)	HEATR1 (D969N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410819	NM_018072.6(HEATR1):c.4996A>G (p.Asn1666Asp)	HEATR1 (N1666D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408521	NM_018072.6(HEATR1):c.2786G>A (p.Ser929Asn)	HEATR1 (S929N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402003	NM_018072.6(HEATR1):c.781A>G (p.Thr261Ala)	HEATR1 (T261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394457	NM_018072.6(HEATR1):c.5779G>C (p.Asp1927His)	HEATR1 (D1927H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393836	NM_018072.6(HEATR1):c.3820C>A (p.Pro1274Thr)	HEATR1 (P1274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392613	NM_018072.6(HEATR1):c.1474G>C (p.Ala492Pro)	HEATR1 (A492P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392323	NM_018072.6(HEATR1):c.2312A>G (p.Tyr771Cys)	HEATR1 (Y771C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387256	NM_018072.6(HEATR1):c.2472C>G (p.Asp824Glu)	HEATR1 (D824E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387169	NM_018072.6(HEATR1):c.203C>T (p.Pro68Leu)	HEATR1 (P68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385720	NM_018072.6(HEATR1):c.4775A>G (p.Asn1592Ser)	HEATR1 (N1592S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379481	NM_018072.6(HEATR1):c.1127A>G (p.Lys376Arg)	HEATR1 (K376R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377560	NM_018072.6(HEATR1):c.2638C>T (p.Pro880Ser)	HEATR1 (P880S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373021	NM_018072.6(HEATR1):c.1267G>C (p.Glu423Gln)	HEATR1 (E423Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371222	NM_018072.6(HEATR1):c.5680A>G (p.Asn1894Asp)	HEATR1 (N1894D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369377	NM_018072.6(HEATR1):c.4954G>A (p.Val1652Met)	HEATR1 (V1652M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368377	NM_018072.6(HEATR1):c.4735G>A (p.Ala1579Thr)	HEATR1 (A1579T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366095	NM_018072.6(HEATR1):c.801G>T (p.Gln267His)	HEATR1 (Q267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359838	NM_018072.6(HEATR1):c.2906A>G (p.Asp969Gly)	HEATR1 (D969G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351940	NM_018072.6(HEATR1):c.3055A>G (p.Met1019Val)	HEATR1 (M1019V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351464	NM_018072.6(HEATR1):c.2903C>T (p.Ser968Leu)	HEATR1 (S968L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350953	NM_018072.6(HEATR1):c.1034C>G (p.Pro345Arg)	HEATR1 (P345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345962	NM_018072.6(HEATR1):c.3978T>G (p.Ile1326Met)	HEATR1 (I1326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345052	NM_018072.6(HEATR1):c.2368G>A (p.Val790Ile)	HEATR1 (V790I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324138	NM_018072.6(HEATR1):c.1793A>G (p.Gln598Arg)	HEATR1 (Q598R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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