C1840529[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8888	NM_000193.4(SHH):c.1270C>G (p.Pro424Ala)	SHH (P424A)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 65849	NM_000193.4(SHH):c.1212_1226del (p.Asp405_Gly409del)	SHH	Deletion (inframe_deletion +1 more)	Holoprosencephaly 3	GPathogenic
Select item 8886	NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)	SHH (A383T)	Single nucleotide variant (missense variant +1 more)	Schizencephaly +4 more	GUncertain significance
Select item 8889	NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del)	SHH	Deletion (inframe_deletion +1 more)	Holoprosencephaly 3	GPathogenic
Select item 65824	NM_000193.4(SHH):c.1005G>A (p.Val335=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GBenign
Select item 65912	NM_000193.4(SHH):c.885C>T (p.Ser295=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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)	Holoprosencephaly 3 +5 more	GBenign/Likely benign
Select item 8885	NM_000193.4(SHH):c.850G>T (p.Glu284Ter)	SHH (E284*)	Single nucleotide variant (nonsense +1 more)	Holoprosencephaly 3	GPathogenic
Select item 65904	NM_000193.4(SHH):c.825G>A (p.Ala275=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GBenign
Select item 8884	NM_000193.4(SHH):c.788_808del (p.Arg263_Ala269del)	SHH	Deletion (inframe_deletion +1 more)	Holoprosencephaly 3	GPathogenic
Select item 8893	NM_000193.4(SHH):c.766G>T (p.Glu256Ter)	SHH (E256*)	Single nucleotide variant (nonsense +1 more)	Holoprosencephaly 3	GPathogenic
Select item 65892	NM_000193.4(SHH):c.708C>A (p.Ser236Arg)	SHH (S236R)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 8883	NM_000193.4(SHH):c.676G>A (p.Ala226Thr)	SHH (A226T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 8882	NM_000193.4(SHH):c.671T>A (p.Val224Glu)	SHH (V224E)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 65887	NM_000193.4(SHH):c.664G>A (p.Asp222Asn)	SHH (D222N)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 65884	NM_000193.4(SHH):c.630C>T (p.Gly210=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 65883	NM_000193.4(SHH):c.625C>T (p.Gln209Ter)	SHH (Q209*)	Single nucleotide variant (nonsense +1 more)	Holoprosencephaly 3	GPathogenic
Select item 65879	NM_000193.4(SHH):c.585G>A (p.Ser195=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	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 65876	NM_000193.4(SHH):c.562G>C (p.Glu188Gln)	SHH (E188Q +1 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 65872	NM_000193.4(SHH):c.474C>G (p.Tyr158Ter)	SHH (Y158* +1 more)	Single nucleotide variant (nonsense +1 more)	Holoprosencephaly 3	GPathogenic
Select item 8881	NM_000193.4(SHH):c.349T>C (p.Trp117Arg)	SHH (W117R +1 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 8880	NM_000193.4(SHH):c.349T>G (p.Trp117Gly)	SHH (W117G +1 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 8896	NM_000193.4(SHH):c.345C>A (p.Asn115Lys)	SHH (N115K +1 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 8879	NM_000193.4(SHH):c.313A>T (p.Lys105Ter)	SHH (K105* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 65860	NM_000193.4(SHH):c.300G>C (p.Gln100His)	SHH (Q100H)	Single nucleotide variant (missense variant)	Holoprosencephaly 3	GPathogenic
Select item 8878	NM_000193.4(SHH):c.298C>T (p.Gln100Ter)	SHH (Q100*)	Single nucleotide variant (nonsense)	Holoprosencephaly 3	GPathogenic
Select item 8891	NM_000193.4(SHH):c.263A>T (p.Asp88Val)	SHH (D88V)	Single nucleotide variant (missense variant)	Holoprosencephaly 3	GPathogenic
Select item 8877	NM_000193.4(SHH):c.91G>A (p.Gly31Arg)	SHH (G31R)	Single nucleotide variant (missense variant)	Holoprosencephaly 3	GPathogenic
Select item 65854	NM_000193.4(SHH):c.38_45del (p.Val13fs)	SHH (V13fs)	Deletion (frameshift variant)	Holoprosencephaly 3	GPathogenic
Select item 65853	NM_000193.4(SHH):c.6_9dup (p.Leu4fs)	SHH (L4fs)	Duplication (frameshift variant)	Holoprosencephaly 3	GPathogenic
Select item 65846	c.1308C>T		Single nucleotide variant	Holoprosencephaly 3	GPathogenic

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Items: 33