ClinVar for MedGen (Select 488800) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369439	NM_000824.4(GLRB):c.*1367T>C	GLRB	Single nucleotide variant	Hyperekplexia	GBenign
Select item 368951	NM_004211.4(SLC6A5):c.*206G>T	SLC6A5	Single nucleotide variant	Hyperekplexia	GLikely benign
Select item 368950	NM_004211.4(SLC6A5):c.-279A>G	SLC6A5	Single nucleotide variant	Hyperekplexia	GLikely benign
Select item 352324	NM_000171.4(GLRA1):c.-14C>T	GLRA1	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia	GLikely benign
Select item 347945	NM_000824.5(GLRB):c.*996del	GLRB	Deletion (3 prime UTR variant)	Hyperekplexia	GLikely benign
Select item 347937	NM_000824.5(GLRB):c.*467dup	GLRB	Duplication (3 prime UTR variant)	Hyperekplexia	GUncertain significance
Select item 347928	NM_000824.5(GLRB):c.1365CAA[1] (p.Asn456del)	GLRB (N456del)	Microsatellite (inframe_deletion +1 more)	Hyperekplexia 2 +1 more	GConflicting classifications of pathogenicity
Select item 304048	NM_004211.5(SLC6A5):c.*184T>C	SLC6A5	Single nucleotide variant (3 prime UTR variant)	Hyperekplexia	GUncertain significance
Select item 304047	NM_004211.5(SLC6A5):c.*161G>T	SLC6A5	Single nucleotide variant (3 prime UTR variant)	Hyperekplexia	GLikely benign
Select item 304046	NM_004211.5(SLC6A5):c.*160C>T	SLC6A5	Single nucleotide variant (3 prime UTR variant)	Hyperekplexia	GLikely benign
Select item 304045	NM_004211.5(SLC6A5):c.*122C>T	SLC6A5	Single nucleotide variant (3 prime UTR variant)	Hyperekplexia	GLikely benign
Select item 304044	NM_004211.5(SLC6A5):c.*23G>T	SLC6A5	Single nucleotide variant (3 prime UTR variant)	Hyperekplexia	GLikely benign
Select item 304043	NM_004211.5(SLC6A5):c.*3C>T	SLC6A5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 304042	NM_004211.5(SLC6A5):c.2366A>G (p.Lys789Arg)	SLC6A5 (K789R +1 more)	Single nucleotide variant (missense variant)	SLC6A5-related condition +2 more	GBenign/Likely benign
Select item 304041	NM_004211.5(SLC6A5):c.2306G>A (p.Arg769His)	SLC6A5 (R769H +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3 +1 more	GLikely benign
Select item 304040	NM_004211.5(SLC6A5):c.2299G>A (p.Gly767Arg)	SLC6A5 (G767R +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia +1 more	GBenign
Select item 304039	NM_004211.5(SLC6A5):c.2297G>A (p.Arg766His)	SLC6A5 (R766H +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia +2 more	GUncertain significance
Select item 304037	NM_004211.5(SLC6A5):c.2214T>A (p.His738Gln)	SLC6A5 (H738Q +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3 +1 more	GConflicting classifications of pathogenicity
Select item 304036	NM_004211.5(SLC6A5):c.2186T>C (p.Ile729Thr)	SLC6A5 (I729T +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia +1 more	GUncertain significance
Select item 304035	NM_004211.5(SLC6A5):c.2119T>C (p.Ser707Pro)	SLC6A5 (S707P +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia	GUncertain significance
Select item 304034	NM_004211.5(SLC6A5):c.2103G>A (p.Glu701=)	SLC6A5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 304032	NM_004211.5(SLC6A5):c.2070C>T (p.Thr690=)	SLC6A5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 304031	NM_004211.5(SLC6A5):c.2026T>G (p.Phe676Val)	SLC6A5 (F676V +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3 +1 more	GLikely benign
Select item 304030	NM_004211.5(SLC6A5):c.1863C>T (p.Ile621=)	SLC6A5	Single nucleotide variant (synonymous variant)	SLC6A5-related condition +2 more	GLikely benign
Select item 304029	NM_004211.5(SLC6A5):c.1653G>A (p.Pro551=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3 +1 more	GConflicting classifications of pathogenicity
Select item 304028	NM_004211.5(SLC6A5):c.1585A>C (p.Asn529His)	SLC6A5 (N529H +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia	GUncertain significance
Select item 304027	NM_004211.5(SLC6A5):c.1548C>T (p.Ala516=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia +2 more	GBenign/Likely benign
Select item 304025	NM_004211.5(SLC6A5):c.1496A>T (p.Tyr499Phe)	SLC6A5 (Y499F +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3 +1 more	GBenign
Select item 304024	NM_004211.5(SLC6A5):c.1413C>T (p.Ala471=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3 +1 more	GBenign/Likely benign
Select item 304023	NM_004211.5(SLC6A5):c.1387G>A (p.Asp463Asn)	SLC6A5 (D463N +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3 +2 more	GBenign
Select item 304022	NM_004211.5(SLC6A5):c.1371G>C (p.Lys457Asn)	SLC6A5 (K457N +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3 +2 more	GBenign
Select item 304021	NM_004211.5(SLC6A5):c.1288T>A (p.Tyr430Asn)	SLC6A5 (Y430N +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia	GUncertain significance
Select item 304020	NM_004211.5(SLC6A5):c.1281G>A (p.Thr427=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3 +2 more	GLikely benign
Select item 304019	NM_004211.5(SLC6A5):c.1277C>G (p.Ala426Gly)	SLC6A5 (A426G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 304018	NM_004211.5(SLC6A5):c.1230A>G (p.Ser410=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3 +2 more	GBenign
Select item 304017	NM_004211.5(SLC6A5):c.1169G>T (p.Gly390Val)	SLC6A5 (G390V +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3 +2 more	GConflicting classifications of pathogenicity
Select item 304016	NM_004211.5(SLC6A5):c.951G>A (p.Thr317=)	SLC6A5	Single nucleotide variant (synonymous variant)	SLC6A5-related condition +2 more	GBenign
Select item 304015	NM_004211.5(SLC6A5):c.950C>T (p.Thr317Met)	SLC6A5 (T317M +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3 +1 more	GLikely benign
Select item 304014	NM_004211.5(SLC6A5):c.802G>A (p.Ala268Thr)	SLC6A5 (A268T +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia	GUncertain significance
Select item 304013	NM_004211.5(SLC6A5):c.777A>G (p.Pro259=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia +2 more	GBenign
Select item 304012	NM_004211.5(SLC6A5):c.500C>A (p.Thr167Lys)	SLC6A5 (T167K)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 3 +1 more	GBenign
Select item 304011	NM_004211.5(SLC6A5):c.485C>G (p.Ala162Gly)	SLC6A5 (A162G)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia +1 more	GBenign
Select item 304010	NM_004211.5(SLC6A5):c.445G>T (p.Val149Leu)	SLC6A5 (V149L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia	GUncertain significance
Select item 304009	NM_004211.5(SLC6A5):c.395C>G (p.Ala132Gly)	SLC6A5 (A132G)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3 +1 more	GBenign
Select item 304008	NM_004211.5(SLC6A5):c.371T>C (p.Phe124Ser)	SLC6A5 (F124S)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia +1 more	GBenign
Select item 304007	NM_004211.5(SLC6A5):c.356A>G (p.His119Arg)	SLC6A5 (H119R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3 +1 more	GLikely benign
Select item 304006	NM_004211.5(SLC6A5):c.352C>T (p.Leu118=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3 +1 more	GBenign
Select item 304005	NM_004211.5(SLC6A5):c.347A>G (p.Asn116Ser)	SLC6A5 (N116S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 304004	NM_004211.5(SLC6A5):c.342C>G (p.Pro114=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 304003	NM_004211.5(SLC6A5):c.336C>T (p.Ser112=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3 +1 more	GBenign
Select item 304002	NM_004211.5(SLC6A5):c.304G>A (p.Gly102Ser)	SLC6A5 (G102S)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 3 +1 more	GBenign
Select item 304001	NM_004211.5(SLC6A5):c.266C>A (p.Ala89Glu)	SLC6A5 (A89E)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 3 +2 more	GBenign/Likely benign
Select item 304000	NM_004211.5(SLC6A5):c.150T>G (p.Arg50=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia +1 more	GLikely benign
Select item 303999	NM_004211.5(SLC6A5):c.137C>G (p.Pro46Arg)	SLC6A5 (P46R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 303998	NM_004211.5(SLC6A5):c.134C>G (p.Ala45Gly)	SLC6A5 (A45G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 303997	NM_004211.5(SLC6A5):c.96C>T (p.Pro32=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3 +1 more	GConflicting classifications of pathogenicity
Select item 303996	NM_004211.5(SLC6A5):c.95C>T (p.Pro32Leu)	SLC6A5 (P32L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3 +1 more	GLikely benign
Select item 303995	NM_004211.5(SLC6A5):c.77C>T (p.Pro26Leu)	SLC6A5 (P26L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia	GUncertain significance
Select item 303994	NM_004211.5(SLC6A5):c.59C>T (p.Ala20Val)	SLC6A5 (A20V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303992	NM_004211.5(SLC6A5):c.-2A>G	SLC6A5	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia	GUncertain significance
Select item 303991	NM_004211.5(SLC6A5):c.-33C>T	SLC6A5	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia +1 more	GBenign
Select item 303990	NM_004211.5(SLC6A5):c.-41G>T	SLC6A5	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia	GLikely benign
Select item 303989	NM_004211.4(SLC6A5):c.-82delG	SLC6A5	Deletion	Hyperekplexia	GUncertain significance
Select item 303988	NM_004211.4(SLC6A5):c.-91A>G	SLC6A5	Single nucleotide variant	Hyperekplexia	GLikely benign
Select item 303987	NM_004211.4(SLC6A5):c.-138G>A	SLC6A5	Single nucleotide variant	Hyperekplexia	GLikely benign
Select item 303986	NM_004211.4(SLC6A5):c.-176T>G	SLC6A5	Single nucleotide variant	not provided +1 more	GBenign
Select item 303985	NM_004211.4(SLC6A5):c.-181A>G	SLC6A5	Single nucleotide variant	Hyperekplexia	GLikely benign
Select item 303984	NM_004211.4(SLC6A5):c.-192C>T	SLC6A5	Single nucleotide variant	Hyperekplexia	GBenign
Select item 303983	NM_004211.4(SLC6A5):c.-239A>G	SLC6A5	Single nucleotide variant	Hyperekplexia	GLikely benign
Select item 5973	NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr)	GPHN (N10Y)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +3 more	GUncertain significance

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Items: 70