SYP[gene] and "single gene"[properties] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 283428	NM_003179.3(SYP):c.*1T>A	SYP	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1698307	NM_003179.3(SYP):c.902G>A (p.Gly301Asp)	SYP (G301D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573736	NM_003179.3(SYP):c.898T>C (p.Tyr300His)	SYP (Y300H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370590	NM_003179.3(SYP):c.889C>A (p.Gln297Lys)	SYP (Q297K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308745	NM_003179.3(SYP):c.886G>A (p.Gly296Arg)	SYP (G296R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064753	NM_003179.3(SYP):c.882C>G (p.Asp294Glu)	SYP (D294E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 368465	NM_003179.3(SYP):c.877G>A (p.Gly293Ser)	SYP (G293S)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 130532	NM_003179.3(SYP):c.869G>A (p.Gly290Glu)	SYP (G290E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 252615	NM_003179.3(SYP):c.868G>T (p.Gly290Trp)	SYP (G290W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1802096	NM_003179.3(SYP):c.853G>A (p.Gly285Ser)	SYP (G285S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987397	NM_003179.3(SYP):c.829_832del (p.Asp277fs)	SYP (D277fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1336184	NM_003179.3(SYP):c.801C>T (p.Ser267=)	SYP	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2436915	NM_003179.3(SYP):c.787G>A (p.Gly263Arg)	SYP (G263R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 1709598	NM_003179.3(SYP):c.786C>G (p.Tyr262Ter)	SYP (Y262*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 96	GUncertain significance
Select item 3340769	NM_003179.3(SYP):c.761G>A (p.Gly254Asp)	SYP (G254D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752111	NM_003179.3(SYP):c.705G>C (p.Ala235=)	SYP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 198158	NM_003179.3(SYP):c.687C>T (p.Ala229=)	SYP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1700130	NM_003179.3(SYP):c.684G>A (p.Trp228Ter)	SYP (W228*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GLikely pathogenic
Select item 743063	NM_003179.3(SYP):c.681C>A (p.Gly227=)	SYP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 9866	NM_003179.3(SYP):c.649G>C (p.Gly217Arg)	SYP (G217R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GPathogenic
Select item 1683820	NM_003179.3(SYP):c.626T>G (p.Phe209Cys)	SYP (F209C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725059	NM_003179.3(SYP):c.624C>T (p.Gly208=)	SYP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024328	NM_003179.3(SYP):c.615+2T>C	SYP	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 96	GLikely pathogenic
Select item 197750	NM_003179.3(SYP):c.612G>A (p.Ser204=)	SYP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2501541	NM_003179.3(SYP):c.611C>T (p.Ser204Leu)	SYP (S204L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3039461	NM_003179.3(SYP):c.603C>T (p.Leu201=)	SYP	Single nucleotide variant (synonymous variant)	SYP-related disorder	GLikely benign
Select item 282601	NM_003179.3(SYP):c.593C>T (p.Thr198Ile)	SYP (T198I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3336213	NM_003179.3(SYP):c.584A>G (p.Asp195Gly)	SYP (D195G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334758	NM_003179.3(SYP):c.583G>A (p.Asp195Asn)	SYP (D195N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368205	NM_003179.3(SYP):c.541C>T (p.Pro181Ser)	SYP (P181S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257553	NM_003179.3(SYP):c.533A>G (p.Lys178Arg)	SYP (K178R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030635	NM_003179.3(SYP):c.526A>G (p.Ile176Val)	SYP (I176V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 208678	NM_003179.3(SYP):c.520G>A (p.Glu174Lys)	SYP (E174K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302187	NM_003179.3(SYP):c.514G>A (p.Asp172Asn)	SYP (D172N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2660517	NM_003179.3(SYP):c.512C>T (p.Thr171Ile)	SYP (T171I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590246	NM_003179.3(SYP):c.398G>A (p.Arg133Gln)	SYP (R133Q)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder	GLikely benign
Select item 1313922	NM_003179.3(SYP):c.397C>T (p.Arg133Ter)	SYP (R133*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 2637670	NM_003179.3(SYP):c.375C>T (p.Tyr125=)	SYP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1699249	NM_003179.3(SYP):c.367G>A (p.Ala123Thr)	SYP (A123T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 2363761	NM_003179.3(SYP):c.312C>T (p.Ala104=)	SYP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GBenign
Select item 2502128	NM_003179.3(SYP):c.305C>T (p.Ser102Leu)	SYP (S102L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9863	NM_003179.3(SYP):c.274dup (p.Thr92fs)	SYP (T92fs)	Duplication (frameshift variant)	Intellectual disability, X-linked 96	GPathogenic
Select item 2581831	NM_003179.3(SYP):c.251C>G (p.Ala84Gly)	SYP (A84G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660518	NM_003179.3(SYP):c.227+83G>T	SYP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1705715	NM_003179.3(SYP):c.214G>T (p.Glu72Ter)	SYP (E72*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 96	GUncertain significance
Select item 2512291	NM_003179.3(SYP):c.184G>A (p.Glu62Lys)	SYP (E62K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 9864	NM_003179.3(SYP):c.177_178delinsGT (p.Asn59_Lys60delinsLysTer)	SYP	Indel (nonsense)	Intellectual disability, X-linked 96	GPathogenic
Select item 1722781	NM_003179.3(SYP):c.170G>C (p.Cys57Ser)	SYP (C57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025801	NM_003179.3(SYP):c.138C>T (p.Ser46=)	SYP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695869	NM_003179.3(SYP):c.121T>C (p.Phe41Leu)	SYP (F41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637777	NM_003179.3(SYP):c.109G>A (p.Ala37Thr)	SYP (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982860	NM_003179.3(SYP):c.103G>A (p.Val35Ile)	SYP (V35I)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 3361278	NM_003179.3(SYP):c.895G>C (p.Gly299Arg)	SYP (G299R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 53