ClinVar for Gene (Select 6038) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358156	NM_001097577.3(ANG):c.-10G>T	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	ANG-related disorder	GLikely benign
Select item 3352504	NM_001097577.3(ANG):c.345A>G (p.Pro115=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	ANG-related disorder	GLikely benign
Select item 3314636	NM_002937.5(RNASE4):c.391G>A (p.Val131Ile)	EGILA, RNASE4 (V131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293963	NM_001097577.3(ANG):c.171G>A (p.Arg57=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 3220948	NM_001097577.3(ANG):c.36C>T (p.Phe12=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 3154852	NM_002937.5(RNASE4):c.431A>G (p.His144Arg)	EGILA, RNASE4 (H144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154851	NM_002937.5(RNASE4):c.334A>G (p.Thr112Ala)	EGILA, RNASE4 (T112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154850	NM_002937.5(RNASE4):c.330G>T (p.Arg110Ser)	EGILA, RNASE4 (R110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154849	NM_002937.5(RNASE4):c.104G>C (p.Arg35Pro)	EGILA, RNASE4 (R35P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3118056	NM_001097577.3(ANG):c.223C>G (p.Arg75Gly)	ANG, EGILA +1 more (R75G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3051906	NM_001097577.3(ANG):c.356G>A (p.Arg119Gln)	ANG, EGILA +1 more (R119Q)	Single nucleotide variant (missense variant +1 more)	ANG-related disorder	GUncertain significance
Select item 3030978	NM_001097577.3(ANG):c.174C>T (p.Gly58=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	ANG-related disorder	GLikely benign
Select item 2901021	NM_001097577.3(ANG):c.193G>A (p.Asp65Asn)	ANG, EGILA +1 more (D65N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892920	NM_001097577.3(ANG):c.393T>C (p.Cys131=)	RNASE4, ANG +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2862356	NM_001097577.3(ANG):c.370T>A (p.Phe124Ile)	ANG, EGILA +1 more (F124I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2806119	NM_001097577.3(ANG):c.413A>C (p.His138Pro)	ANG, EGILA +1 more (H138P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2797295	NM_001097577.3(ANG):c.436C>T (p.Arg146Cys)	ANG, EGILA +1 more (R146C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2765172	NM_001097577.3(ANG):c.117_118insCA (p.Ala40fs)	ANG, EGILA +1 more (A40fs)	Insertion (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2756332	NM_001097577.3(ANG):c.111C>T (p.His37=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2636742	NM_001097577.3(ANG):c.356G>T (p.Arg119Leu)	ANG, EGILA +1 more (R119L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2599168	NM_002937.5(RNASE4):c.389G>A (p.Arg130His)	EGILA, RNASE4 (R130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482218	NM_002937.5(RNASE4):c.244C>G (p.Arg82Gly)	EGILA, RNASE4 (R82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423882	NC_000014.8:g.(?_21161724)_(21162167_?)dup	ANG, RNASE4	Duplication	not provided	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2367488	NM_002937.5(RNASE4):c.206G>A (p.Arg69His)	EGILA, RNASE4 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322998	NM_001097577.3(ANG):c.359C>A (p.Ala120Asp)	ANG, EGILA +1 more (A120D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265845	NM_001097577.3(ANG):c.96C>A (p.His32Gln)	ANG, EGILA +1 more (H32Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2253962	NM_001097577.3(ANG):c.253A>C (p.Asn85His)	ANG, EGILA +1 more (N85H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212376	NM_001097577.3(ANG):c.129G>C (p.Gln43His)	RNASE4, ANG +1 more (Q43H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 2197000	NM_001097577.3(ANG):c.38_43dup (p.Leu14_Gly15insValLeu)	ANG, EGILA +1 more	Duplication (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 2193037	NM_001097577.3(ANG):c.105C>G (p.Thr35=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2124024	NM_001097577.3(ANG):c.418G>A (p.Asp140Asn)	EGILA, ANG +1 more (D140N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2076275	NM_001097577.3(ANG):c.345A>C (p.Pro115=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2034972	NM_001097577.3(ANG):c.333C>T (p.Ser111=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2027857	NM_001097577.3(ANG):c.200A>G (p.Asn67Ser)	ANG, EGILA +1 more (N67S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008216	NM_001097577.3(ANG):c.85A>G (p.Arg29Gly)	ANG, EGILA +1 more (R29G)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1948642	NM_001097577.3(ANG):c.379G>A (p.Val127Ile)	ANG, EGILA +1 more (V127I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945561	NM_001097577.3(ANG):c.141C>T (p.Asp47=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1930811	NM_001097577.3(ANG):c.374G>A (p.Arg125Lys)	ANG, EGILA +1 more (R125K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1786220	NM_001097577.3(ANG):c.211C>A (p.His71Asn)	ANG, EGILA +1 more (H71N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1730747	NM_001097577.3(ANG):c.113A>G (p.Tyr38Cys)	RNASE4, ANG +1 more (Y38C)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1694092	NM_001097577.3(ANG):c.133C>T (p.Arg45Trp)	ANG, EGILA +1 more (R45W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1447658	NM_001097577.3(ANG):c.434G>A (p.Arg145His)	RNASE4, ANG +1 more (R145H)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1428243	NM_001097577.3(ANG):c.170G>A (p.Arg57Gln)	ANG, EGILA +1 more (R57Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1381736	NM_001097577.3(ANG):c.110A>G (p.His37Arg)	ANG, EGILA +1 more (H37R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1366739	NM_001097577.3(ANG):c.433C>T (p.Arg145Cys)	ANG, EGILA +1 more (R145C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1344517	NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)	ANG, EGILA +1 more (G123A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 1313117	NM_001097577.3(ANG):c.199A>G (p.Asn67Asp)	ANG, EGILA +1 more (N67D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1294469	NC_000014.9:g.20694316_20694317dup	ANG, EGILA +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1288180	NM_001097577.3(ANG):c.-18-222G>C	ANG, RNASE4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286899	NM_001097577.3(ANG):c.-18-321T>G	ANG, RNASE4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269594	NM_001097577.3(ANG):c.-18-325A>G	ANG, RNASE4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256595	NM_001097577.3(ANG):c.132C>T (p.Gly44=)	EGILA, RNASE4 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1251384	NC_000014.9:g.20694317dup	ANG, EGILA +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1214917	NC_000014.9:g.20694317del	ANG, EGILA +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 1192726	NM_001097577.3(ANG):c.-18-76G>A	ANG, RNASE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 980001	GRCh37/hg19 14q11.2(chr14:21109252-21182930)x1	ANG, OR6S1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 883659	NM_001097577.3(ANG):c.368G>A (p.Gly123Glu)	ANG, EGILA +1 more (G123E)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 883658	NM_001097577.3(ANG):c.224G>A (p.Arg75His)	ANG, EGILA +1 more (R75H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 882867	NM_001097577.3(ANG):c.62C>T (p.Pro21Leu)	ANG, EGILA +1 more (P21L)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GUncertain significance
Select item 882866	NM_001097577.3(ANG):c.62C>A (p.Pro21Gln)	ANG, EGILA +1 more (P21Q)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 882865	NM_001097577.3(ANG):c.38T>C (p.Val13Ala)	ANG, EGILA +1 more (V13A)	Single nucleotide variant (non-coding transcript variant +3 more)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 882864	NM_001097577.3(ANG):c.-18-4G>A	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 881717	NM_001145.4(ANG):c.-168A>G	ANG, RNASE4	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 881316	NM_001097577.3(ANG):c.*139A>G	ANG, EGILA +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 881315	NM_001097577.3(ANG):c.*81A>C	EGILA, RNASE4 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 873274	NM_001097577.3(ANG):c.324dup (p.Gly109fs)	ANG, EGILA +1 more (G109fs)	Duplication (frameshift variant +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 807062	NM_001097577.3(ANG):c.94C>T (p.His32Tyr)	ANG, EGILA +1 more (H32Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 807061	NM_001097577.3(ANG):c.53T>A (p.Leu18Gln)	ANG, EGILA +1 more (L18Q)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 807060	NM_001097577.3(ANG):c.3G>A (p.Met1Ile)	ANG, EGILA +1 more (M1I)	Single nucleotide variant (non-coding transcript variant +4 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 804533	NM_001097577.3(ANG):c.61C>T (p.Pro21Ser)	ANG, EGILA +1 more (P21S)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 685568	GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3	ANG, APEX1 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 493139	NM_001097577.3(ANG):c.232A>G (p.Lys78Glu)	ANG, EGILA +1 more (K78E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 446824	NM_001097577.3(ANG):c.170G>C (p.Arg57Pro)	ANG, EGILA +1 more (R57P)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 312778	NM_001097577.3(ANG):c.*10C>T	ANG, EGILA +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 312777	NM_001097577.3(ANG):c.441G>A (p.Pro147=)	RNASE4, ANG +1 more	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 312776	NM_001097577.3(ANG):c.365C>T (p.Ala122Val)	ANG, EGILA +1 more (A122V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 312775	NM_001097577.3(ANG):c.363A>T (p.Thr121=)	RNASE4, ANG +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 312774	NM_001097577.3(ANG):c.250A>G (p.Lys84Glu)	ANG, EGILA +1 more (K84E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 312773	NM_001097577.3(ANG):c.99C>T (p.Phe33=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 312772	NM_001145.4(ANG):c.-19+11A>C	ANG, LOC130055270 +1 more	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 312771	NM_001145.4(ANG):c.-41T>C	ANG, LOC130055270 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 312770	NM_001145.4(ANG):c.-115G>C	ANG, RNASE4	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 257559	NM_001097577.3(ANG):c.330T>G (p.Gly110=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 253894	GRCh37/hg19 14q11.2(chr14:20978713-21575128)x3	ANG, ARHGEF40 +25 more	Copy number gain	See cases	GUncertain significance

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