"Eurofins Ntd Llc (ga)"[submitter] AND "SHH"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593102	NM_000193.4(SHH):c.1272G>A (p.Pro424=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	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 196231	NM_000193.4(SHH):c.1102G>A (p.Glu368Lys)	SHH (E368K)	Single nucleotide variant (missense variant +1 more)	not provided	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 282694	NM_000193.4(SHH):c.1040C>G (p.Pro347Arg)	SHH (P347R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 597652	NM_000193.4(SHH):c.1018G>T (p.Glu340Ter)	SHH (E340*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 286553	NM_000193.4(SHH):c.989C>T (p.Ala330Val)	SHH (A330V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 289691	NM_000193.4(SHH):c.972C>T (p.Asp324=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 65911	NM_000193.4(SHH):c.876G>A (p.Gly292=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 8887	NM_000193.4(SHH):c.869G>A (p.Gly290Asp)	SHH (G290D)	Single nucleotide variant (missense variant +1 more)	Schizencephaly +5 more	GBenign/Likely benign
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 595658	NM_000193.4(SHH):c.750G>A (p.Lys250=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3 +1 more	GConflicting classifications of pathogenicity
Select item 65884	NM_000193.4(SHH):c.630C>T (p.Gly210=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3 +2 more	GBenign
Select item 65877	NM_000193.4(SHH):c.570G>A (p.Ser190=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 281911	NM_000193.4(SHH):c.330C>T (p.Ala110=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596663	NM_000193.4(SHH):c.276C>A (p.Thr92=)	SHH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 193059	NM_000193.4(SHH):c.271A>G (p.Asn91Asp)	SHH (N91D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 403436	NM_000193.4(SHH):c.-125G>A	SHH	Single nucleotide variant (5 prime UTR variant)	Holoprosencephaly 3 +2 more	GBenign