NBK1530 AND genereviews[submitter] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 65505	NM_005413.4(SIX3):c.90G>T (p.Ala30=)	SIX3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 65493	NM_005413.4(SIX3):c.219C>T (p.Pro73=)	SIX3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 65500	NM_005413.4(SIX3):c.576C>T (p.Arg192=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2 +3 more	GBenign
Select item 6093	NM_005413.4(SIX3):c.676C>G (p.Leu226Val)	SIX3 (L226V)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GPathogenic
Select item 65501	NM_005413.4(SIX3):c.696_705del (p.Asn232fs)	SIX3 (N232fs)	Deletion (frameshift variant)	Holoprosencephaly 2	GPathogenic
Select item 6095	NM_005413.4(SIX3):c.749T>C (p.Val250Ala)	SIX3 (V250A)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GPathogenic
Select item 6094	NM_005413.4(SIX3):c.770G>C (p.Arg257Pro)	SIX3 (R257P)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GLikely pathogenic
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)	not provided +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)	Holoprosencephaly 3 +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 provided +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 +6 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 (intron variant +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)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +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 specified +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 specified +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)	Holoprosencephaly 3	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 66078	NM_023110.3(FGFR1):c.2174G>A (p.Cys725Tyr)	FGFR1 (C636Y +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
Select item 223246	NM_023110.3(FGFR1):c.1884T>G (p.Asn628Lys)	FGFR1 (N539K +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	Gnot provided
Select item 223245	NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr)	FGFR1 (R538T +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GConflicting classifications of pathogenicity
Select item 66080	NM_023110.3(FGFR1):c.1867G>T (p.Asp623Tyr)	FGFR1 (D530Y +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
Select item 223244	NM_023110.3(FGFR1):c.1468G>C (p.Gly490Arg)	FGFR1 (G397R +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic
Select item 223243	NM_023110.3(FGFR1):c.572T>C (p.Leu191Ser)	FGFR1 (L191S +5 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	Gnot provided
Select item 66079	NM_023110.3(FGFR1):c.494T>C (p.Leu165Ser)	FGFR1 (L165S +5 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
Select item 6637	NM_007129.4(ZIC2):c.177_178ins56	ZIC2	Insertion	Holoprosencephaly 5	GPathogenic
Select item 65487	NM_007129.5(ZIC2):c.936del (p.Lys312fs)	ZIC2 (K312fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GPathogenic
Select item 6640	NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs)	ZIC2 (E348fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GPathogenic
Select item 65492	NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs)	ZIC2 (Q364fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GPathogenic
Select item 6638	NM_007129.5(ZIC2):c.1318dup (p.Leu440fs)	ZIC2 (L440fs)	Duplication (frameshift variant)	Holoprosencephaly 5	GPathogenic
Select item 6639	NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15])	LOC110008580, ZIC2	Microsatellite	Holoprosencephaly 5	GPathogenic
Select item 65496	NM_003244.4(TGIF1):c.16+1845C>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 4	GBenign
Select item 65507	NM_003244.4(TGIF1):c.581T>G (p.Val194Gly)	TGIF1 (V174G +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GBenign
Select item 65846	c.1308C>T		Single nucleotide variant	Holoprosencephaly 3	GPathogenic
Select item 65506	SIX3:c.942G>A		Single nucleotide variant	Holoprosencephaly 2	GBenign
Select item 65504	TGIF1:c.887C>T		Single nucleotide variant	Holoprosencephaly 4	GBenign
Select item 65488	1 bp del G 7		Deletion	Holoprosencephaly 5	GPathogenic

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Items: 58