HEATR6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 2237881	NM_022070.5(HEATR6):c.3467G>A (p.Gly1156Asp)	HEATR6 (G1156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469263	NM_022070.5(HEATR6):c.3352G>C (p.Asp1118His)	HEATR6 (D1118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104886	NM_022070.5(HEATR6):c.3320T>C (p.Leu1107Pro)	HEATR6 (L1107P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467740	NM_022070.5(HEATR6):c.3122G>A (p.Arg1041Gln)	HEATR6 (R1041Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104885	NM_022070.5(HEATR6):c.3089G>C (p.Arg1030Thr)	HEATR6 (R1030T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314563	NM_022070.5(HEATR6):c.3074C>T (p.Ser1025Phe)	HEATR6 (S1025F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283838	NM_022070.5(HEATR6):c.3053T>G (p.Ile1018Ser)	HEATR6 (I1018S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104884	NM_022070.5(HEATR6):c.3050G>A (p.Arg1017His)	HEATR6 (R1017H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342516	NM_022070.5(HEATR6):c.3008C>T (p.Ala1003Val)	HEATR6 (A1003V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458285	NM_022070.5(HEATR6):c.3005A>G (p.Asn1002Ser)	HEATR6 (N1002S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484481	NM_022070.5(HEATR6):c.2935G>A (p.Ala979Thr)	HEATR6 (A979T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397948	NM_022070.5(HEATR6):c.2926G>A (p.Ala976Thr)	HEATR6 (A976T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225422	NM_022070.5(HEATR6):c.2848G>T (p.Ala950Ser)	HEATR6 (A950S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546239	NM_022070.5(HEATR6):c.2845T>G (p.Phe949Val)	HEATR6 (F949V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104883	NM_022070.5(HEATR6):c.2819A>G (p.Gln940Arg)	HEATR6 (Q940R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104882	NM_022070.5(HEATR6):c.2781T>G (p.Asn927Lys)	HEATR6 (N927K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618905	NM_022070.5(HEATR6):c.2777G>A (p.Ser926Asn)	HEATR6 (S926N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591063	NM_022070.5(HEATR6):c.2743A>G (p.Ile915Val)	HEATR6 (I915V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104881	NM_022070.5(HEATR6):c.2708C>T (p.Ser903Phe)	HEATR6 (S903F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356324	NM_022070.5(HEATR6):c.2705T>C (p.Phe902Ser)	HEATR6 (F902S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312676	NM_022070.5(HEATR6):c.2684A>T (p.Asp895Val)	HEATR6 (D895V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608663	NM_022070.5(HEATR6):c.2678C>T (p.Thr893Ile)	HEATR6 (T893I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533358	NM_022070.5(HEATR6):c.2588T>C (p.Met863Thr)	HEATR6 (M863T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283836	NM_022070.5(HEATR6):c.2539C>T (p.Leu847Phe)	HEATR6 (L847F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259249	NM_022070.5(HEATR6):c.2507G>A (p.Arg836Gln)	HEATR6 (R836Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478256	NM_022070.5(HEATR6):c.2483G>A (p.Arg828His)	HEATR6 (R828H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104879	NM_022070.5(HEATR6):c.2471A>G (p.Asp824Gly)	HEATR6 (D824G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210649	NM_022070.5(HEATR6):c.2379T>G (p.Cys793Trp)	HEATR6 (C793W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491844	NM_022070.5(HEATR6):c.2360C>A (p.Thr787Asn)	HEATR6 (T787N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104876	NM_022070.5(HEATR6):c.2324C>A (p.Pro775His)	HEATR6 (P775H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410820	NM_022070.5(HEATR6):c.2320G>A (p.Gly774Ser)	HEATR6 (G774S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260353	NM_022070.5(HEATR6):c.2317A>T (p.Asn773Tyr)	HEATR6 (N773Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283839	NM_022070.5(HEATR6):c.2298G>A (p.Met766Ile)	HEATR6 (M766I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104875	NM_022070.5(HEATR6):c.2279C>T (p.Pro760Leu)	HEATR6 (P760L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353147	NM_022070.5(HEATR6):c.2258C>G (p.Ala753Gly)	HEATR6 (A753G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279038	NM_022070.5(HEATR6):c.2258C>T (p.Ala753Val)	HEATR6 (A753V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283837	NM_022070.5(HEATR6):c.2141G>A (p.Gly714Glu)	HEATR6 (G714E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596643	NM_022070.5(HEATR6):c.1964G>A (p.Arg655Gln)	HEATR6 (R655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311400	NM_022070.5(HEATR6):c.1936G>C (p.Gly646Arg)	HEATR6 (G646R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309895	NM_022070.5(HEATR6):c.1907T>C (p.Leu636Pro)	HEATR6 (L636P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357576	NM_022070.5(HEATR6):c.1873G>C (p.Asp625His)	HEATR6 (D625H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392178	NM_022070.5(HEATR6):c.1721A>G (p.Lys574Arg)	HEATR6 (K574R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104872	NM_022070.5(HEATR6):c.1717C>A (p.His573Asn)	HEATR6 (H573N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104871	NM_022070.5(HEATR6):c.1633A>G (p.Asn545Asp)	HEATR6 (N545D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274021	NM_022070.5(HEATR6):c.1621A>C (p.Lys541Gln)	HEATR6 (K541Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225288	NM_022070.5(HEATR6):c.1606G>A (p.Val536Ile)	HEATR6 (V536I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283832	NM_022070.5(HEATR6):c.1602G>C (p.Gln534His)	HEATR6 (Q534H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276884	NM_022070.5(HEATR6):c.1586C>T (p.Ala529Val)	HEATR6 (A529V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523041	NM_022070.5(HEATR6):c.1571T>G (p.Leu524Trp)	HEATR6 (L524W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496559	NM_022070.5(HEATR6):c.1550G>C (p.Arg517Thr)	HEATR6 (R517T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311231	NM_022070.5(HEATR6):c.1459G>A (p.Gly487Ser)	HEATR6 (G487S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104870	NM_022070.5(HEATR6):c.1450A>G (p.Ile484Val)	HEATR6 (I484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560206	NM_022070.5(HEATR6):c.1443A>C (p.Leu481Phe)	HEATR6 (L481F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211435	NM_022070.5(HEATR6):c.1372T>C (p.Ser458Pro)	HEATR6 (S458P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489431	NM_022070.5(HEATR6):c.1357C>T (p.Leu453Phe)	HEATR6 (L453F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489430	NM_022070.5(HEATR6):c.1356A>T (p.Glu452Asp)	HEATR6 (E452D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384903	NM_022070.5(HEATR6):c.1349C>T (p.Thr450Met)	HEATR6 (T450M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243097	NM_022070.5(HEATR6):c.1307A>G (p.Lys436Arg)	HEATR6 (K436R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207739	NM_022070.5(HEATR6):c.1268C>A (p.Ala423Asp)	HEATR6 (A423D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362565	NM_022070.5(HEATR6):c.1043C>A (p.Thr348Lys)	HEATR6 (T348K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357824	NM_022070.5(HEATR6):c.929G>A (p.Arg310Gln)	HEATR6 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551993	NM_022070.5(HEATR6):c.871C>T (p.Pro291Ser)	HEATR6 (P291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621005	NM_022070.5(HEATR6):c.848C>T (p.Thr283Met)	HEATR6 (T283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283835	NM_022070.5(HEATR6):c.844C>T (p.Pro282Ser)	HEATR6 (P282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551742	NM_022070.5(HEATR6):c.815A>G (p.His272Arg)	HEATR6 (H272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530634	NM_022070.5(HEATR6):c.790G>T (p.Ala264Ser)	HEATR6 (A264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310388	NM_022070.5(HEATR6):c.748A>G (p.Arg250Gly)	HEATR6 (R250G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245325	NM_022070.5(HEATR6):c.746G>T (p.Gly249Val)	HEATR6 (G249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293235	NM_022070.5(HEATR6):c.712G>A (p.Ala238Thr)	HEATR6 (A238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210014	NM_022070.5(HEATR6):c.712G>T (p.Ala238Ser)	HEATR6 (A238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392997	NM_022070.5(HEATR6):c.686T>C (p.Ile229Thr)	HEATR6 (I229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521860	NM_022070.5(HEATR6):c.599C>T (p.Pro200Leu)	HEATR6 (P200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283833	NM_022070.5(HEATR6):c.581T>G (p.Leu194Arg)	HEATR6 (L194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104888	NM_022070.5(HEATR6):c.542T>A (p.Val181Asp)	HEATR6 (V181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297591	NM_022070.5(HEATR6):c.510G>T (p.Lys170Asn)	HEATR6 (K170N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283834	NM_022070.5(HEATR6):c.496G>A (p.Gly166Arg)	HEATR6 (G166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321568	NM_022070.5(HEATR6):c.449A>G (p.Asn150Ser)	HEATR6 (N150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104887	NM_022070.5(HEATR6):c.389A>G (p.Gln130Arg)	HEATR6 (Q130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391265	NM_022070.5(HEATR6):c.307C>T (p.His103Tyr)	HEATR6 (H103Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274650	NM_022070.5(HEATR6):c.238G>T (p.Val80Phe)	HEATR6 (V80F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104877	NM_022070.5(HEATR6):c.232C>G (p.Leu78Val)	HEATR6 (L78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104874	NM_022070.5(HEATR6):c.197A>C (p.Glu66Ala)	HEATR6 (E66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368897	NM_022070.5(HEATR6):c.188A>T (p.Asn63Ile)	HEATR6 (N63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537962	NM_022070.5(HEATR6):c.109C>T (p.Leu37Phe)	HEATR6 (L37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104869	NM_022070.5(HEATR6):c.107G>A (p.Arg36Lys)	HEATR6 (R36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270455	NM_022070.5(HEATR6):c.5C>T (p.Ala2Val)	HEATR6 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685604	GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1	APPBP2, BCAS3 +12 more	Copy number loss	not provided	GPathogenic
Select item 1703621	GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)	APPBP2, BCAS3 +12 more	Copy number gain	Familial clubfoot due to 17q23.1q23.2 microduplication	GLikely pathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340823	GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	APPBP2, BCAS3 +13 more	Copy number loss	not provided	GPathogenic
Select item 974763	NC_000017.10:g.58076721_60362868del	APPBP2, BCAS3 +12 more	Deletion	Megacolon	GLikely pathogenic
Select item 832521	NC_000017.11:g.(?_60078696)_(60158446_?)dup	CA4, HEATR6	Duplication	not provided	GUncertain significance
Select item 815944	GRCh37/hg19 17q23.1-23.2(chr17:58111094-58359510)x3	CA4, USP32 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625757	GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614)	APPBP2, BCAS3 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 585234	GRCh37/hg19 17q23.1(chr17:58075497-58247438)x1	CA4, HEATR6	Copy number loss	not provided	Gnot provided

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