C2676772[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359962	NM_005522.5(HOXA1):c.436C>A (p.His146Asn)	HOXA1, HOXA2 (H146N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 369585	NM_005522.5(HOXA1):c.218G>A (p.Arg73His)	HOXA1, HOXA2 (R73H)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GBenign
Select item 369584	NM_005522.5(HOXA1):c.216_218del (p.Arg73del)	HOXA1, HOXA2 (R73del)	Deletion (inframe_deletion)	Bilateral microtia-deafness-cleft palate syndrome	GLikely benign
Select item 359966	NM_005522.5(HOXA1):c.213C>T (p.His71=)	HOXA1, HOXA2	Single nucleotide variant (synonymous variant)	HOXA1-related condition +4 more	GBenign/Likely benign
Select item 910349	NM_006735.2(HOXA2):c.*385C>T	HOXA2	Single nucleotide variant	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359972	NM_006735.4(HOXA2):c.*357T>C	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 910350	NM_006735.4(HOXA2):c.*338T>C	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359973	NM_006735.4(HOXA2):c.*316T>C	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GBenign
Select item 359974	NM_006735.4(HOXA2):c.*214C>A	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359975	NM_006735.4(HOXA2):c.*210A>T	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 910351	NM_006735.4(HOXA2):c.*209T>C	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 910352	NM_006735.4(HOXA2):c.*193G>C	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359976	NM_006735.4(HOXA2):c.*166A>G	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359977	NM_006735.4(HOXA2):c.*108C>T	HOXA1, HOXA2	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes +2 more	GLikely benign
Select item 911560	NM_006735.4(HOXA2):c.*65T>C	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359978	NM_006735.4(HOXA2):c.*30A>G	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 911561	NM_006735.4(HOXA2):c.1065A>G (p.Ser355=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359979	NM_006735.4(HOXA2):c.1005G>A (p.Gln335=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 911562	NM_006735.4(HOXA2):c.979G>A (p.Val327Ile)	HOXA2 (V327I)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 911563	NM_006735.4(HOXA2):c.970G>A (p.Asp324Asn)	HOXA2 (D324N)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359980	NM_006735.4(HOXA2):c.807C>A (p.Ser269=)	HOXA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 908609	NM_006735.4(HOXA2):c.707C>A (p.Ala236Asp)	HOXA2 (A236D)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 70654	NM_006735.4(HOXA2):c.519G>A (p.Arg173=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359981	NM_006735.4(HOXA2):c.420C>T (p.Gly140=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359982	NM_006735.4(HOXA2):c.394T>A (p.Ser132Thr)	HOXA2 (S132T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 359983	NM_006735.4(HOXA2):c.389A>G (p.Lys130Arg)	HOXA2 (K130R)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 908610	NM_006735.4(HOXA2):c.352A>G (p.Thr118Ala)	HOXA2 (T118A)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 908611	NM_006735.4(HOXA2):c.338C>T (p.Ala113Val)	HOXA2 (A113V)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 909466	NM_006735.4(HOXA2):c.333G>A (p.Pro111=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 909467	NM_006735.4(HOXA2):c.201C>T (p.His67=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 909468	NM_006735.4(HOXA2):c.80C>G (p.Pro27Arg)	HOXA2 (P27R)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 909469	NM_006735.4(HOXA2):c.15T>A (p.Phe5Leu)	HOXA2 (F5L)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 909470	NM_006735.4(HOXA2):c.-18G>A	HOXA2	Single nucleotide variant (5 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359984	NM_006735.4(HOXA2):c.-57C>T	HOXA2	Single nucleotide variant (5 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359985	NM_006735.4(HOXA2):c.-58C>G	HOXA2	Single nucleotide variant (5 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GLikely benign
Select item 359986	NM_006735.4(HOXA2):c.-136A>G	HOXA2	Single nucleotide variant (5 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359987	NM_006735.4(HOXA2):c.-140T>C	HOXA2	Single nucleotide variant (5 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359988	NM_006735.3(HOXA2):c.-193T>C	HOXA2	Single nucleotide variant	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359989	NM_006735.3(HOXA2):c.-215T>C	HOXA2	Single nucleotide variant	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance

ClinVar

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Items: 39