"Ambry Genetics"[submitter] AND "SHH"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502791	NM_000193.4(SHH):c.*8G>T	SHH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1410816	NM_000193.4(SHH):c.1279G>A (p.Gly427Arg)	SHH (G427R)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3 +1 more	GUncertain significance
Select item 1303977	NM_000193.4(SHH):c.1210G>A (p.Gly404Arg)	SHH (G404R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2254042	NM_000193.4(SHH):c.1181G>T (p.Arg394Leu)	SHH (R394L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 281757	NM_000193.4(SHH):c.1181G>A (p.Arg394His)	SHH (R394H)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3 +2 more	GConflicting classifications of pathogenicity
Select item 1362086	NM_000193.4(SHH):c.1178C>G (p.Ala393Gly)	SHH (A393G)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, isolated, with coloboma 5 +5 more	GUncertain significance
Select item 2399269	NM_000193.4(SHH):c.1114T>C (p.Trp372Arg)	SHH (W372R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 196230	NM_000193.4(SHH):c.1078C>T (p.Leu360=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3318277	NM_000193.4(SHH):c.1075G>A (p.Val359Met)	SHH (V359M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206067	NM_000193.4(SHH):c.1073G>A (p.Arg358Gln)	SHH (R358Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560302	NM_000193.4(SHH):c.1014C>G (p.Ser338Arg)	SHH (S338R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 196228	NM_000193.4(SHH):c.897G>C (p.Leu299=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3 +3 more	GBenign
Select item 2226363	NM_000193.4(SHH):c.871T>G (p.Ser291Ala)	SHH (S291A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1355665	NM_000193.4(SHH):c.853C>G (p.Pro285Ala)	SHH (P285A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 196229	NM_000193.4(SHH):c.853C>T (p.Pro285Ser)	SHH (P285S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2233944	NM_000193.4(SHH):c.847G>C (p.Gly283Arg)	SHH (G283R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318278	NM_000193.4(SHH):c.838T>C (p.Ser280Pro)	SHH (S280P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161692	NM_000193.4(SHH):c.823G>A (p.Ala275Thr)	SHH (A275T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281061	NM_000193.4(SHH):c.766G>A (p.Glu256Lys)	SHH (E256K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161691	NM_000193.4(SHH):c.733G>A (p.Asp245Asn)	SHH (D245N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534548	NM_000193.4(SHH):c.688C>G (p.Gln230Glu)	SHH (Q230E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318276	NM_000193.4(SHH):c.622G>C (p.Glu208Gln)	SHH (E208Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161689	NM_000193.4(SHH):c.587G>A (p.Gly196Glu)	SHH (G196E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1806650	NM_000193.4(SHH):c.546C>G (p.His182Gln)	SHH (H182Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2548282	NM_000193.4(SHH):c.533A>G (p.Lys178Arg)	SHH (K178R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228606	NM_000193.4(SHH):c.388G>A (p.Glu130Lys)	SHH (E130K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241502	NM_000193.4(SHH):c.277G>A (p.Gly93Arg)	SHH (G93R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1479674	NM_000193.4(SHH):c.236A>G (p.Asn79Ser)	SHH (N79S)	Single nucleotide variant (missense variant)	Holoprosencephaly 3 +1 more	GUncertain significance
Select item 2663007	NM_000193.4(SHH):c.195G>T (p.Lys65Asn)	SHH (K65N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 983024	NM_000193.4(SHH):c.44C>G (p.Ser15Trp)	SHH (S15W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2251081	NM_000193.4(SHH):c.41C>T (p.Ser14Phe)	SHH (S14F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1949404	NM_000193.4(SHH):c.13G>C (p.Ala5Pro)	SHH (A5P)	Single nucleotide variant (missense variant)	Holoprosencephaly 3 +1 more	GUncertain significance

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Items: 32