C2677434[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 313335	NM_001202.6(BMP4):c.*272A>G	BMP4	Single nucleotide variant (3 prime UTR variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GUncertain significance
Select item 883475	NM_001202.6(BMP4):c.*254A>T	BMP4	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 11	GUncertain significance
Select item 313336	NM_001202.6(BMP4):c.*251C>T	BMP4	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft +2 more	GConflicting classifications of pathogenicity
Select item 313345	NM_001202.6(BMP4):c.*149G>A	BMP4	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 313346	NM_001202.6(BMP4):c.*148A>T	BMP4	Single nucleotide variant (3 prime UTR variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GBenign/Likely benign
Select item 313347	NM_001202.6(BMP4):c.*143A>T	BMP4	Single nucleotide variant (3 prime UTR variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GUncertain significance
Select item 313348	NM_001202.6(BMP4):c.*131A>T	BMP4	Single nucleotide variant (3 prime UTR variant)	Syndromic Microphthalmia, Dominant +2 more	GUncertain significance
Select item 313349	NM_001202.6(BMP4):c.*88C>T	BMP4	Single nucleotide variant (3 prime UTR variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +3 more	GBenign/Likely benign
Select item 313350	NM_001202.6(BMP4):c.*35C>G	BMP4	Single nucleotide variant (3 prime UTR variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GUncertain significance
Select item 881587	NM_001202.6(BMP4):c.*31T>A	BMP4	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 11 +1 more	GConflicting classifications of pathogenicity
Select item 881588	NM_001202.6(BMP4):c.*28A>T	BMP4	Single nucleotide variant (3 prime UTR variant)	Microphthalmia with brain and digit anomalies +1 more	GBenign/Likely benign
Select item 17704	NM_001202.6(BMP4):c.860G>A (p.Arg287His)	BMP4 (R287H +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +2 more	GBenign/Likely benign
Select item 882739	NM_001202.6(BMP4):c.753T>C (p.His251=)	BMP4	Single nucleotide variant (synonymous variant)	BMP4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 497489	NM_001202.6(BMP4):c.676C>T (p.Arg226Trp)	BMP4 (R226W +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +3 more	GConflicting classifications of pathogenicity
Select item 882740	NM_001202.6(BMP4):c.673A>G (p.Thr225Ala)	BMP4 (T272A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 197190	NM_001202.6(BMP4):c.455T>C (p.Val152Ala)	BMP4 (V152A +2 more)	Single nucleotide variant (missense variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +4 more	GBenign/Likely benign
Select item 313351	NM_001202.6(BMP4):c.370+12C>T	BMP4	Single nucleotide variant (intron variant)	Syndromic Microphthalmia, Dominant +2 more	GUncertain significance
Select item 29618	NM_001202.6(BMP4):c.362A>G (p.His121Arg)	BMP4 (H121R +2 more)	Single nucleotide variant (missense variant)	BMP4-related condition +3 more	GConflicting classifications of pathogenicity
Select item 767320	NM_001202.6(BMP4):c.345C>T (p.Asn115=)	BMP4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 883532	NM_001202.6(BMP4):c.305C>T (p.Thr102Ile)	BMP4 (T102I +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GConflicting classifications of pathogenicity
Select item 883533	NM_001202.6(BMP4):c.291G>A (p.Glu97=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11	GUncertain significance
Select item 313352	NM_001202.6(BMP4):c.288A>G (p.Glu96=)	BMP4	Single nucleotide variant (synonymous variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GUncertain significance
Select item 17703	NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)	BMP4 (S91C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 707581	NM_001202.6(BMP4):c.228T>A (p.Ser76Arg)	BMP4 (S123R +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GBenign
Select item 313353	NM_001202.6(BMP4):c.224A>G (p.Lys75Arg)	BMP4 (K75R +2 more)	Single nucleotide variant (missense variant)	Syndromic Microphthalmia, Dominant +4 more	GUncertain significance
Select item 313354	NM_001202.6(BMP4):c.215A>G (p.Gln72Arg)	BMP4 (Q72R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 881629	NM_001202.6(BMP4):c.124G>C (p.Ala42Pro)	BMP4 (A42P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 468357	NM_001202.6(BMP4):c.76T>C (p.Leu26=)	BMP4	Single nucleotide variant (synonymous variant +1 more)	Orofacial cleft 11 +2 more	GConflicting classifications of pathogenicity
Select item 313355	NM_001202.6(BMP4):c.-146T>C	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GBenign/Likely benign
Select item 881630	NM_001202.6(BMP4):c.-155G>A	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Microphthalmia with brain and digit anomalies +1 more	GBenign/Likely benign
Select item 882793	NM_001202.6(BMP4):c.-251C>G	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 11	GUncertain significance
Select item 882794	NM_001202.6(BMP4):c.-329T>C	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 11	GUncertain significance
Select item 313356	NM_001202.6(BMP4):c.-342G>A	BMP4, LOC109433677 (R21K)	Single nucleotide variant (5 prime UTR variant +1 more)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GUncertain significance

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Items: 33