ClinVar for MedGen (Select 395629) - ClinVar

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Items: 42

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 8836591.	NM_001097577.3(ANG):c.368G>A (p.Gly123Glu) GRCh37: Chr14:21162091 GRCh38: Chr14:20693932	ANG, EGILA, RNASE4	G123E	Amyotrophic lateral sclerosis type 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8836582.	NM_001097577.3(ANG):c.224G>A (p.Arg75His) GRCh37: Chr14:21161947 GRCh38: Chr14:20693788	ANG, EGILA, RNASE4	R75H	not provided, Amyotrophic lateral sclerosis type 9	Uncertain significance (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8828673.	NM_001097577.3(ANG):c.62C>T (p.Pro21Leu) GRCh37: Chr14:21161785 GRCh38: Chr14:20693626	ANG, EGILA, RNASE4	P21L	Amyotrophic lateral sclerosis type 9, not provided	Uncertain significance (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8828664.	NM_001097577.3(ANG):c.62C>A (p.Pro21Gln) GRCh37: Chr14:21161785 GRCh38: Chr14:20693626	ANG, EGILA, RNASE4	P21Q	Amyotrophic lateral sclerosis type 9, not provided	Benign/Likely benign (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8828655.	NM_001097577.3(ANG):c.38T>C (p.Val13Ala) GRCh37: Chr14:21161761 GRCh38: Chr14:20693602	ANG, EGILA, RNASE4	V13A	Amyotrophic lateral sclerosis type 9	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8828646.	NM_001097577.3(ANG):c.-18-4G>A GRCh37: Chr14:21161702 GRCh38: Chr14:20693543	ANG, EGILA, RNASE4		Amyotrophic lateral sclerosis type 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8817177.	NM_002937.5(RNASE4):c.-167A>G GRCh37: Chr14:21152768 GRCh38: Chr14:20684609	ANG, RNASE4		Amyotrophic lateral sclerosis type 9	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8813168.	NM_001097577.3(ANG):c.*139A>G GRCh37: Chr14:21162306 GRCh38: Chr14:20694147	ANG, EGILA, RNASE4		Amyotrophic lateral sclerosis type 9	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8813159.	NM_001097577.3(ANG):c.*81A>C GRCh37: Chr14:21162248 GRCh38: Chr14:20694089	ANG, EGILA, RNASE4		Amyotrophic lateral sclerosis type 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88125610.	NM_001145.4(ANG):c.-542G>A GRCh37: Chr14:21152394 GRCh38: Chr14:20684235	ANG		Amyotrophic lateral sclerosis type 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 80706011.	NM_001097577.3(ANG):c.3G>A (p.Met1Ile) GRCh37: Chr14:21161726 GRCh38: Chr14:20693567	ANG, EGILA, RNASE4	M1I	ANG-related condition, Amyotrophic lateral sclerosis type 10, not provided, Amyotrophic lateral sclerosis type 9	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 31277812.	NM_001097577.3(ANG):c.*10C>T GRCh37: Chr14:21162177 GRCh38: Chr14:20694018	ANG, EGILA, RNASE4		Amyotrophic lateral sclerosis type 9	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31277713.	NM_001097577.3(ANG):c.441G>A (p.Pro147=) GRCh37: Chr14:21162164 GRCh38: Chr14:20694005	ANG, EGILA, RNASE4		Amyotrophic lateral sclerosis type 9	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31277614.	NM_001097577.3(ANG):c.365C>T (p.Ala122Val) GRCh37: Chr14:21162088 GRCh38: Chr14:20693929	ANG, EGILA, RNASE4	A122V	Amyotrophic lateral sclerosis type 9	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31277515.	NM_001097577.3(ANG):c.363A>T (p.Thr121=) GRCh37: Chr14:21162086 GRCh38: Chr14:20693927	ANG, EGILA, RNASE4		Amyotrophic lateral sclerosis type 9, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31277416.	NM_001097577.3(ANG):c.250A>G (p.Lys84Glu) GRCh37: Chr14:21161973 GRCh38: Chr14:20693814	ANG, EGILA, RNASE4	K84E	not specified, Amyotrophic lateral sclerosis type 9, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31277317.	NM_001097577.3(ANG):c.99C>T (p.Phe33=) GRCh37: Chr14:21161822 GRCh38: Chr14:20693663	RNASE4, ANG, EGILA		Amyotrophic lateral sclerosis type 9, Inborn genetic diseases, not provided	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31277218.	NM_002937.5(RNASE4):c.-18+11A>C GRCh37: Chr14:21152928 GRCh38: Chr14:20684769	ANG, LOC130055270, RNASE4		Amyotrophic lateral sclerosis type 9	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31277119.	NM_002937.5(RNASE4):c.-40T>C GRCh37: Chr14:21152895 GRCh38: Chr14:20684736	ANG, LOC130055270, RNASE4		Amyotrophic lateral sclerosis type 9	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31277020.	NM_002937.5(RNASE4):c.-114G>C GRCh37: Chr14:21152821 GRCh38: Chr14:20684662	ANG, RNASE4		Amyotrophic lateral sclerosis type 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31276921.	NM_001145.4(ANG):c.-237A>C GRCh37: Chr14:21152699 GRCh38: Chr14:20684540	ANG		Amyotrophic lateral sclerosis type 9	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31276822.	NM_001145.4(ANG):c.-332C>A GRCh37: Chr14:21152604 GRCh38: Chr14:20684445	ANG, LOC130055269		Amyotrophic lateral sclerosis type 9	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31276723.	NM_001145.4(ANG):c.-381C>T GRCh37: Chr14:21152555 GRCh38: Chr14:20684396	LOC130055269, ANG		Amyotrophic lateral sclerosis type 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31276624.	NM_001145.4(ANG):c.-383C>G GRCh37: Chr14:21152553 GRCh38: Chr14:20684394	ANG, LOC130055269		Amyotrophic lateral sclerosis type 9	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31276525.	NM_001145.4(ANG):c.-401G>T GRCh37: Chr14:21152535 GRCh38: Chr14:20684376	ANG, LOC130055269		Amyotrophic lateral sclerosis type 9	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31276426.	NM_001145.4(ANG):c.-423C>T GRCh37: Chr14:21152513 GRCh38: Chr14:20684354	ANG		Amyotrophic lateral sclerosis type 9	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31276327.	NM_001145.4(ANG):c.-524G>A GRCh37: Chr14:21152412 GRCh38: Chr14:20684253	ANG		Amyotrophic lateral sclerosis type 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31276228.	NM_001145.4(ANG):c.-530T>C GRCh37: Chr14:21152406 GRCh38: Chr14:20684247	ANG		Amyotrophic lateral sclerosis type 9	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31276129.	NM_001145.4(ANG):c.-534C>T GRCh37: Chr14:21152402 GRCh38: Chr14:20684243	ANG		Amyotrophic lateral sclerosis type 9	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31276030.	NM_001145.4(ANG):c.-579G>C GRCh37: Chr14:21152357 GRCh38: Chr14:20684198	ANG		Amyotrophic lateral sclerosis type 9	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31275931.	NM_001145.4(ANG):c.-594C>A GRCh37: Chr14:21152342 GRCh38: Chr14:20684183	ANG		Amyotrophic lateral sclerosis type 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 25755932.	NM_001097577.3(ANG):c.330T>G (p.Gly110=) GRCh37: Chr14:21162053 GRCh38: Chr14:20693894	ANG, EGILA, RNASE4		Inborn genetic diseases, Amyotrophic lateral sclerosis type 9, not specified, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1808233.	NM_001097577.3(ANG):c.409G>A (p.Val137Ile) GRCh37: Chr14:21162132 GRCh38: Chr14:20693973	ANG, EGILA, RNASE4	V137I	Amyotrophic lateral sclerosis type 9	Pathogenic (Feb 1, 2008)	no assertion criteria provided
Select item 1808134.	NM_001097577.3(ANG):c.407C>T (p.Pro136Leu) GRCh37: Chr14:21162130 GRCh38: Chr14:20693971	ANG, EGILA, RNASE4	P136L	ANG-related condition, Amyotrophic lateral sclerosis type 9	Conflicting interpretations of pathogenicity (Aug 6, 2023)	criteria provided, conflicting interpretations
Select item 1808035.	NM_001097577.3(ANG):c.155G>A (p.Ser52Asn) GRCh37: Chr14:21161878 GRCh38: Chr14:20693719	ANG, EGILA, RNASE4	S52N	Amyotrophic lateral sclerosis type 9	Likely pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 1807936.	NM_001097577.3(ANG):c.208A>G (p.Ile70Val) GRCh37: Chr14:21161931 GRCh38: Chr14:20693772	ANG, EGILA, RNASE4	I70V	not specified, not provided, Amyotrophic lateral sclerosis type 9	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 1807837.	NM_001097577.3(ANG):c.191A>T (p.Lys64Ile) GRCh37: Chr14:21161914 GRCh38: Chr14:20693755	ANG, EGILA, RNASE4	K64I	Amyotrophic lateral sclerosis type 9	Pathogenic (Apr 1, 2006)	no assertion criteria provided
Select item 1807738.	NM_001097577.3(ANG):c.189C>G (p.Cys63Trp) GRCh37: Chr14:21161912 GRCh38: Chr14:20693753	ANG, EGILA, RNASE4	C63W	Amyotrophic lateral sclerosis type 9	Pathogenic (Apr 1, 2006)	no assertion criteria provided
Select item 1807639.	NM_001097577.3(ANG):c.164G>A (p.Arg55Lys) GRCh37: Chr14:21161887 GRCh38: Chr14:20693728	ANG, EGILA, RNASE4	R55K	Amyotrophic lateral sclerosis type 9	Pathogenic (Apr 1, 2006)	no assertion criteria provided
Select item 1807540.	NM_001097577.3(ANG):c.121A>G (p.Lys41Glu) GRCh37: Chr14:21161844 GRCh38: Chr14:20693685	ANG, EGILA, RNASE4	K41E	Amyotrophic lateral sclerosis type 9	Pathogenic (Apr 1, 2006)	no assertion criteria provided
Select item 1807441.	NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) GRCh37: Chr14:21161845 GRCh38: Chr14:20693686	ANG, EGILA, RNASE4	K41I	not specified, not provided, Amyotrophic lateral sclerosis type 9	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations
Select item 1807342.	NM_001097577.3(ANG):c.107A>T (p.Gln36Leu) GRCh37: Chr14:21161830 GRCh38: Chr14:20693671	ANG, EGILA, RNASE4	Q36L	Amyotrophic lateral sclerosis type 9	Pathogenic (Apr 1, 2006)	no assertion criteria provided

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Items: 42