RNASE4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
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 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 312771	NM_001145.4(ANG):c.-41T>C	ANG, LOC130055270 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9 +1 more	GBenign
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 1269594	NM_001097577.3(ANG):c.-18-325A>G	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 1288180	NM_001097577.3(ANG):c.-18-222G>C	ANG, RNASE4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192726	NM_001097577.3(ANG):c.-18-76G>A	ANG, RNASE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 18073	NM_001097577.3(ANG):c.107A>T (p.Gln36Leu)	ANG, EGILA +1 more (Q36L)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
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 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 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 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 18075	NM_001097577.3(ANG):c.121A>G (p.Lys41Glu)	ANG, EGILA +1 more (K41E)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18074	NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)	ANG, EGILA +1 more (K41I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 18080	NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)	ANG, EGILA +1 more (S52N)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GLikely pathogenic
Select item 18076	NM_001097577.3(ANG):c.164G>A (p.Arg55Lys)	ANG, EGILA +1 more (R55K)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
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 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 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 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 18077	NM_001097577.3(ANG):c.189C>G (p.Cys63Trp)	ANG, EGILA +1 more (C63W)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18078	NM_001097577.3(ANG):c.191A>T (p.Lys64Ile)	ANG, EGILA +1 more (K64I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
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 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 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 18079	NM_001097577.3(ANG):c.208A>G (p.Ile70Val)	ANG, EGILA +1 more (I70V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9 +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 225053	NM_001097577.3(ANG):c.406C>T (p.Pro136Ser)	RNASE4, ANG +1 more (P136S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 18081	NM_001097577.3(ANG):c.407C>T (p.Pro136Leu)	ANG, EGILA +1 more (P136L)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9 +2 more	GConflicting classifications of pathogenicity
Select item 18082	NM_001097577.3(ANG):c.409G>A (p.Val137Ile)	ANG, EGILA +1 more (V137I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
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 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 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 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 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 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 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 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 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 1294469	NC_000014.9:g.20694316_20694317dup	ANG, EGILA +1 more	Duplication (intron variant)	not provided	GBenign
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 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 2367488	NM_002937.5(RNASE4):c.206G>A (p.Arg69His)	EGILA, RNASE4 (R69H)	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 3154850	NM_002937.5(RNASE4):c.330G>T (p.Arg110Ser)	EGILA, RNASE4 (R110S)	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 2599168	NM_002937.5(RNASE4):c.389G>A (p.Arg130His)	EGILA, RNASE4 (R130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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