C0079541[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062107	NM_001377229.1(DISP1):c.1916C>T (p.Thr639Ile)	DISP1 (T32I +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331001	NM_001374353.1(GLI2):c.81_82del	GLI2	Deletion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331009	NM_001374353.1(GLI2):c.1147_1148del	GLI2	Deletion (3 prime UTR variant)	Holoprosencephaly sequence	GLikely benign
Select item 331011	NM_001374353.1(GLI2):c.1330_1331insCTACAC	GLI2	Insertion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331010	NM_001374353.1(GLI2):c.*1330CA[4]	GLI2	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331016	NM_001374353.1(GLI2):c.*1333AC[26]	GLI2	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331015	NM_001374353.1(GLI2):c.*1333AC[25]	GLI2	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331014	NM_001374353.1(GLI2):c.*1333AC[24]	GLI2	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331013	NM_001374353.1(GLI2):c.*1333AC[23]	GLI2	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331019	NM_001374353.1(GLI2):c.*1333AC[19]	GLI2	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331018	NM_001374353.1(GLI2):c.*1333AC[20]	GLI2	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331017	NM_001374353.1(GLI2):c.*1333AC[21]	GLI2	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331023	NM_001374353.1(GLI2):c.1376_1379dup	GLI2	Duplication (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331022	NM_001374353.1(GLI2):c.1376_1377insACCCCC	GLI2	Insertion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331021	NM_001374353.1(GLI2):c.1376_1377insACCC	GLI2	Insertion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331020	NM_001374353.1(GLI2):c.1376_1377insACACCCC	GLI2	Insertion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 331029	NM_001374353.1(GLI2):c.1837_1840dup	GLI2	Duplication (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GConflicting classifications of pathogenicity
Select item 362270	NM_001369769.2(KIFC2):c.*377C>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GBenign
Select item 362271	NM_001369769.2(KIFC2):c.*398G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909137	NM_001369769.2(KIFC2):c.*413C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909138	NM_001369769.2(KIFC2):c.*419C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909979	NM_001369769.2(KIFC2):c.*426C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909980	NM_001369769.2(KIFC2):c.*467G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909981	NM_001369769.2(KIFC2):c.*495G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909982	NM_001369769.2(KIFC2):c.*527G>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362272	NM_001369769.2(KIFC2):c.*538G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GBenign
Select item 362273	NM_001369769.2(KIFC2):c.612_614del	FOXH1, KIFC2	Deletion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909983	NM_001369769.2(KIFC2):c.*616C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GLikely benign
Select item 362274	NM_001369769.2(KIFC2):c.*677G>C	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909984	NM_001369769.2(KIFC2):c.*761T>C	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362275	NM_001369769.2(KIFC2):c.*775C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362276	NM_001369769.2(KIFC2):c.*794G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GBenign
Select item 362277	NM_003923.3(FOXH1):c.*23C>T	FOXH1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GLikely benign
Select item 910871	NM_003923.3(FOXH1):c.*21C>A	FOXH1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 259199	NM_003923.3(FOXH1):c.*20A>G	FOXH1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +2 more	GBenign
Select item 137397	NM_003923.3(FOXH1):c.1077G>A (p.Leu359=)	FOXH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 458508	NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly)	FOXH1 (D350G)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 696087	NM_003923.3(FOXH1):c.1023C>T (p.Tyr341=)	FOXH1	Single nucleotide variant (synonymous variant)	FOXH1-related condition +1 more	GBenign/Likely benign
Select item 281145	NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu)	FOXH1 (D328E)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GBenign/Likely benign
Select item 912093	NM_003923.3(FOXH1):c.965G>T (p.Gly322Val)	FOXH1 (G322V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 362278	NM_003923.3(FOXH1):c.933G>C (p.Trp311Cys)	FOXH1 (W311C)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 912094	NM_003923.3(FOXH1):c.812C>T (p.Ala271Val)	FOXH1 (A271V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362279	NM_003923.3(FOXH1):c.785G>T (p.Gly262Val)	FOXH1 (G262V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 196370	NM_003923.3(FOXH1):c.783T>C (p.Pro261=)	FOXH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 912095	NM_003923.3(FOXH1):c.776C>T (p.Ala259Val)	FOXH1 (A259V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 219981	NM_003923.3(FOXH1):c.771C>A (p.Gly257=)	FOXH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 137396	NM_003923.3(FOXH1):c.771C>T (p.Gly257=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +1 more	GBenign
Select item 632518	NM_003923.3(FOXH1):c.700C>T (p.Gln234Ter)	FOXH1 (Q234*)	Single nucleotide variant (nonsense)	Holoprosencephaly sequence	GUncertain significance
Select item 362280	NM_003923.3(FOXH1):c.577C>A (p.Pro193Thr)	FOXH1 (P193T)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 700942	NM_003923.3(FOXH1):c.487C>T (p.Pro163Ser)	FOXH1 (P163S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GLikely benign
Select item 908088	NM_003923.3(FOXH1):c.478C>G (p.Pro160Ala)	FOXH1 (P160A)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 137395	NM_003923.3(FOXH1):c.450C>T (p.His150=)	FOXH1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 362281	NM_003923.3(FOXH1):c.442G>A (p.Val148Met)	FOXH1 (V148M)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 908089	NM_003923.3(FOXH1):c.406G>T (p.Ala136Ser)	FOXH1 (A136S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 362282	NM_003923.3(FOXH1):c.389G>A (p.Arg130His)	FOXH1 (R130H)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 577331	NM_003923.3(FOXH1):c.386G>A (p.Arg129Gln)	FOXH1 (R129Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 196368	NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser)	FOXH1 (T125S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 137394	NM_003923.3(FOXH1):c.363G>C (p.Arg121=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +1 more	GBenign
Select item 239585	NM_003923.3(FOXH1):c.361C>A (p.Arg121=)	FOXH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 94385	NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr)	FOXH1 (S113T)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +2 more	GBenign/Likely benign
Select item 362283	NM_003923.3(FOXH1):c.260C>G (p.Ser87Cys)	FOXH1 (S87C)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 910041	NM_003923.3(FOXH1):c.224A>G (p.Glu75Gly)	FOXH1 (E75G)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GConflicting classifications of pathogenicity
Select item 910936	NM_003923.3(FOXH1):c.182G>A (p.Arg61His)	FOXH1 (R61H)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 910937	NM_003923.3(FOXH1):c.81G>A (p.Arg27=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GUncertain significance
Select item 259200	NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu)	FOXH1 (S16L)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +2 more	GConflicting classifications of pathogenicity
Select item 910938	NM_003923.3(FOXH1):c.44A>T (p.Glu15Val)	FOXH1 (E15V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 215825	NM_003923.3(FOXH1):c.15C>T (p.Ser5=)	FOXH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910939	NM_003923.3(FOXH1):c.-27C>A	FOXH1	Single nucleotide variant (5 prime UTR variant)	Holoprosencephaly sequence	GBenign
Select item 910940	NM_003923.3(FOXH1):c.-53G>A	FOXH1	Single nucleotide variant (5 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362284	NM_003923.3(FOXH1):c.-54C>T	FOXH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 362285	NM_003923.2(FOXH1):c.-140delC	FOXH1	Deletion	Holoprosencephaly sequence	GUncertain significance
Select item 362286	NM_003923.2(FOXH1):c.-206C>T	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 912158	NM_003923.2(FOXH1):c.-275G>T	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 362287	NM_003923.2(FOXH1):c.-280G>A	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 912160	NM_003923.2(FOXH1):c.-307G>A	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GBenign
Select item 912159	NM_003923.2(FOXH1):c.-307G>C	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 362288	NM_003923.2(FOXH1):c.-314T>G	FOXH1	Single nucleotide variant	not provided +1 more	GBenign
Select item 362289	NM_003923.2(FOXH1):c.-333T>C	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GBenign
Select item 912161	NM_003923.2(FOXH1):c.-337G>A	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 362290	NM_003923.2(FOXH1):c.-446T>C	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 362291	NM_003923.2(FOXH1):c.-506G>A	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 908151	NM_003923.2(FOXH1):c.-527C>T	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 908152	NM_003923.2(FOXH1):c.-543C>T	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 367624	NM_000264.5(PTCH1):c.*2988TTGT[1]	PTCH1	Microsatellite (3 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GLikely benign
Select item 367626	NM_000264.5(PTCH1):c.*2288dup	PTCH1	Duplication (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 367633	NM_000264.5(PTCH1):c.*1893GT[4]	PTCH1	Microsatellite (3 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GLikely benign
Select item 367637	NM_000264.5(PTCH1):c.*1866TG[12]	PTCH1	Microsatellite (3 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 367636	NM_000264.5(PTCH1):c.*1866TG[10]	PTCH1	Microsatellite (3 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GLikely benign
Select item 367655	NM_000264.5(PTCH1):c.748_749insACTT	PTCH1	Insertion (3 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GLikely benign
Select item 367654	NM_000264.5(PTCH1):c.748_749insATTT	PTCH1	Insertion (3 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GLikely benign
Select item 367656	NM_000264.5(PTCH1):c.*664dup	PTCH1	Duplication (3 prime UTR variant +1 more)	Holoprosencephaly sequence +2 more	GBenign
Select item 8224	NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	PTCH1 (T1052M +4 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 7 +5 more	GConflicting classifications of pathogenicity
Select item 367667	NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 367671	NM_000264.5(PTCH1):c.1602+15_1602+17del	PTCH1	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 300284	NM_018055.5(NODAL):c.*887C>T	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300285	NM_018055.5(NODAL):c.*886G>A	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GBenign
Select item 300286	NM_018055.5(NODAL):c.*836G>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 879350	NM_018055.5(NODAL):c.*829T>G	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 879351	NM_018055.5(NODAL):c.*820G>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 300287	NM_018055.5(NODAL):c.*747dup	NODAL	Duplication (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance

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