"OFD1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631346	NM_003611.3(OFD1):c.38T>G (p.Val13Gly)	LOC126863212, OFD1 (V13G)	Single nucleotide variant (missense variant +1 more)	OFD1-related disorder	GUncertain significance
Select item 1504241	NM_003611.3(OFD1):c.59G>A (p.Arg20His)	LOC126863212, OFD1 (R20H)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +2 more	GUncertain significance
Select item 1354994	NM_003611.3(OFD1):c.112-4C>G	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 288538	NM_003611.3(OFD1):c.276T>C (p.Ser92=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	OFD1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3031535	NM_003611.3(OFD1):c.442G>C (p.Ala148Pro)	OFD1 (A148P +1 more)	Single nucleotide variant (missense variant)	OFD1-related disorder	GLikely pathogenic
Select item 1562604	NM_003611.3(OFD1):c.451C>T (p.His151Tyr)	OFD1 (H11Y +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GBenign/Likely benign
Select item 703554	NM_003611.3(OFD1):c.567G>A (p.Gln189=)	OFD1	Single nucleotide variant (synonymous variant)	OFD1-related disorder +3 more	GBenign/Likely benign
Select item 1643141	NM_003611.3(OFD1):c.781G>A (p.Val261Ile)	OFD1 (V121I +1 more)	Single nucleotide variant (missense variant)	OFD1-related disorder +2 more	GBenign/Likely benign
Select item 588792	NM_003611.3(OFD1):c.858G>A (p.Arg286=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +4 more	GBenign/Likely benign
Select item 586193	NM_003611.3(OFD1):c.919G>A (p.Val307Ile)	OFD1 (V307I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3046869	NM_003611.3(OFD1):c.934T>C (p.Leu312=)	OFD1	Single nucleotide variant (synonymous variant)	OFD1-related disorder	GLikely benign
Select item 2080476	NM_003611.3(OFD1):c.935+8A>T	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 3053928	NM_003611.3(OFD1):c.935+688G>A	OFD1	Single nucleotide variant (intron variant)	OFD1-related disorder	GLikely benign
Select item 193661	NM_003611.3(OFD1):c.936-2A>G	OFD1	Single nucleotide variant (splice acceptor variant +1 more)	Congenital anomaly of kidney and urinary tract +4 more	GConflicting classifications of pathogenicity
Select item 1106239	NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)	OFD1 (E199K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 977597	NM_003611.3(OFD1):c.1111G>A (p.Asp371Asn)	OFD1 (D231N +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 2631653	NM_003611.3(OFD1):c.1268_1272del (p.Gln423fs)	OFD1 (Q383fs +2 more)	Microsatellite (frameshift variant)	OFD1-related disorder	GPathogenic
Select item 188156	NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)	OFD1 (K432E +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +8 more	GBenign/Likely benign
Select item 994698	NM_003611.3(OFD1):c.1347A>G (p.Ala449=)	OFD1	Single nucleotide variant (synonymous variant)	OFD1-related disorder +6 more	GLikely benign
Select item 2189202	NM_003611.3(OFD1):c.1412G>C (p.Arg471Pro)	OFD1 (R431P +2 more)	Single nucleotide variant (missense variant)	OFD1-related disorder +2 more	GUncertain significance
Select item 159466	NM_003611.3(OFD1):c.1654+8A>G	OFD1	Single nucleotide variant (intron variant)	OFD1-related disorder +4 more	GBenign/Likely benign
Select item 2632591	NM_003611.3(OFD1):c.1702C>T (p.Arg568Cys)	OFD1 (R428C +2 more)	Single nucleotide variant (missense variant)	OFD1-related disorder	GUncertain significance
Select item 2628493	NM_003611.3(OFD1):c.1706C>G (p.Ser569Cys)	OFD1 (S429C +2 more)	Single nucleotide variant (missense variant)	OFD1-related disorder	GUncertain significance
Select item 412878	NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser)	OFD1 (N577S +2 more)	Single nucleotide variant (missense variant)	OFD1-related disorder +4 more	GBenign/Likely benign
Select item 1580880	NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala)	OFD1 (T473A +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 546295	NM_003611.3(OFD1):c.1861C>T (p.Pro621Ser)	OFD1 (P621S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1246944	NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)	OFD1 (T566I +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 2573506	NM_003611.3(OFD1):c.2119C>T (p.Leu707Phe)	OFD1 (L567F +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2938846	NM_003611.3(OFD1):c.2238C>T (p.Leu746=)	OFD1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 3061138	NM_003611.3(OFD1):c.2239G>C (p.Glu747Gln)	OFD1 (E607Q +2 more)	Single nucleotide variant (missense variant)	OFD1-related disorder	GUncertain significance
Select item 515870	NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly)	OFD1 (R800G +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +4 more	GBenign/Likely benign
Select item 1168272	NM_003611.3(OFD1):c.2488+14_2488+19del	OFD1	Deletion (intron variant)	Orofaciodigital syndrome I +5 more	GBenign/Likely benign
Select item 1956498	NM_003611.3(OFD1):c.2508G>A (p.Arg836=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +2 more	GConflicting classifications of pathogenicity
Select item 2573505	NM_003611.3(OFD1):c.2758-2A>T	OFD1	Single nucleotide variant (splice acceptor variant)	OFD1-related disorder +1 more	GUncertain significance

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Items: 34