HEATR1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3283754	NM_018072.6(HEATR1):c.6179C>G (p.Ser2060Cys)	HEATR1 (S2060C)	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 2553297	NM_018072.6(HEATR1):c.6152A>G (p.Gln2051Arg)	HEATR1 (Q2051R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283755	NM_018072.6(HEATR1):c.6119G>A (p.Arg2040Gln)	HEATR1 (R2040Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230518	NM_018072.6(HEATR1):c.6100G>C (p.Glu2034Gln)	HEATR1 (E2034Q)	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 3283749	NM_018072.6(HEATR1):c.6035G>A (p.Ser2012Asn)	HEATR1 (S2012N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736676	NM_018072.6(HEATR1):c.5964C>T (p.Cys1988=)	HEATR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2294621	NM_018072.6(HEATR1):c.5888C>T (p.Ala1963Val)	HEATR1 (A1963V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283752	NM_018072.6(HEATR1):c.5819C>T (p.Ala1940Val)	HEATR1 (A1940V)	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 767766	NM_018072.6(HEATR1):c.5754+6G>C	HEATR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745854	NM_018072.6(HEATR1):c.5724C>T (p.Ser1908=)	HEATR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257579	NM_018072.6(HEATR1):c.5718A>T (p.Lys1906Asn)	HEATR1 (K1906N)	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 3283770	NM_018072.6(HEATR1):c.5687T>C (p.Ile1896Thr)	HEATR1 (I1896T)	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 2467222	NM_018072.6(HEATR1):c.5675C>T (p.Thr1892Met)	HEATR1 (T1892M)	Single nucleotide variant (missense variant)	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 2467397	NM_018072.6(HEATR1):c.5473G>A (p.Ala1825Thr)	HEATR1 (A1825T)	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 2530258	NM_018072.6(HEATR1):c.5264T>C (p.Val1755Ala)	HEATR1 (V1755A)	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 2533357	NM_018072.6(HEATR1):c.5001A>T (p.Arg1667Ser)	HEATR1 (R1667S)	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 2369377	NM_018072.6(HEATR1):c.4954G>A (p.Val1652Met)	HEATR1 (V1652M)	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 3104767	NM_018072.6(HEATR1):c.4907C>A (p.Thr1636Lys)	HEATR1 (T1636K)	Single nucleotide variant (missense variant)	not specified	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 2220432	NM_018072.6(HEATR1):c.4850G>A (p.Arg1617His)	HEATR1 (R1617H)	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 2385720	NM_018072.6(HEATR1):c.4775A>G (p.Asn1592Ser)	HEATR1 (N1592S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769258	NM_018072.6(HEATR1):c.4770+7G>T	HEATR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2368377	NM_018072.6(HEATR1):c.4735G>A (p.Ala1579Thr)	HEATR1 (A1579T)	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 3283759	NM_018072.6(HEATR1):c.4670A>G (p.Tyr1557Cys)	HEATR1 (Y1557C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2568847	NM_018072.6(HEATR1):c.4618C>T (p.Pro1540Ser)	HEATR1 (P1540S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283756	NM_018072.6(HEATR1):c.4550C>T (p.Ser1517Leu)	HEATR1 (S1517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283772	NM_018072.6(HEATR1):c.4532G>A (p.Arg1511Gln)	HEATR1 (R1511Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306944	NM_018072.6(HEATR1):c.4522A>C (p.Lys1508Gln)	HEATR1 (K1508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307246	NM_018072.6(HEATR1):c.4467G>C (p.Lys1489Asn)	HEATR1 (K1489N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283764	NM_018072.6(HEATR1):c.4447A>G (p.Lys1483Glu)	HEATR1 (K1483E)	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 3104766	NM_018072.6(HEATR1):c.4439C>A (p.Thr1480Asn)	HEATR1 (T1480N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229786	NM_018072.6(HEATR1):c.4411C>A (p.Leu1471Ile)	HEATR1 (L1471I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283760	NM_018072.6(HEATR1):c.4390A>G (p.Met1464Val)	HEATR1 (M1464V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2233716	NM_018072.6(HEATR1):c.4304A>G (p.Glu1435Gly)	HEATR1 (E1435G)	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 2211720	NM_018072.6(HEATR1):c.4198G>A (p.Val1400Ile)	HEATR1 (V1400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283761	NM_018072.6(HEATR1):c.4189C>T (p.Pro1397Ser)	HEATR1 (P1397S)	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 3104764	NM_018072.6(HEATR1):c.4096A>G (p.Ile1366Val)	HEATR1 (I1366V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3283769	NM_018072.6(HEATR1):c.3965A>G (p.Asn1322Ser)	HEATR1 (N1322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283765	NM_018072.6(HEATR1):c.3963C>G (p.His1321Gln)	HEATR1 (H1321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291117	NM_018072.6(HEATR1):c.3901C>T (p.His1301Tyr)	HEATR1 (H1301Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299494	NM_018072.6(HEATR1):c.3829A>C (p.Ile1277Leu)	HEATR1 (I1277L)	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 3283758	NM_018072.6(HEATR1):c.3815A>G (p.Lys1272Arg)	HEATR1 (K1272R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780330	NM_018072.6(HEATR1):c.3798A>G (p.Leu1266=)	HEATR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3283747	NM_018072.6(HEATR1):c.3769A>G (p.Ser1257Gly)	HEATR1 (S1257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283751	NM_018072.6(HEATR1):c.3755A>G (p.Lys1252Arg)	HEATR1 (K1252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2411181	NM_018072.6(HEATR1):c.3595G>A (p.Val1199Ile)	HEATR1 (V1199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239933	NM_018072.6(HEATR1):c.3584C>T (p.Ser1195Phe)	HEATR1 (S1195F)	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 3283763	NM_018072.6(HEATR1):c.3342T>G (p.Phe1114Leu)	HEATR1 (F1114L)	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 2455990	NM_018072.6(HEATR1):c.3293G>A (p.Gly1098Glu)	HEATR1 (G1098E)	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 2640106	NM_018072.6(HEATR1):c.3237G>A (p.Pro1079=)	HEATR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2473346	NM_018072.6(HEATR1):c.3107C>G (p.Pro1036Arg)	HEATR1 (P1036R)	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 2351940	NM_018072.6(HEATR1):c.3055A>G (p.Met1019Val)	HEATR1 (M1019V)	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 2524918	NM_018072.6(HEATR1):c.2962A>G (p.Lys988Glu)	HEATR1 (K988E)	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 2359838	NM_018072.6(HEATR1):c.2906A>G (p.Asp969Gly)	HEATR1 (D969G)	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 2351464	NM_018072.6(HEATR1):c.2903C>T (p.Ser968Leu)	HEATR1 (S968L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773295	NM_018072.6(HEATR1):c.2836A>G (p.Ser946Gly)	HEATR1 (S946G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2231957	NM_018072.6(HEATR1):c.2794A>G (p.Lys932Glu)	HEATR1 (K932E)	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 3104756	NM_018072.6(HEATR1):c.2790C>T (p.Pro930=)	HEATR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2411499	NM_018072.6(HEATR1):c.2653G>A (p.Val885Met)	HEATR1 (V885M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3283771	NM_018072.6(HEATR1):c.2513A>G (p.Asn838Ser)	HEATR1 (N838S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2387256	NM_018072.6(HEATR1):c.2472C>G (p.Asp824Glu)	HEATR1 (D824E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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