ClinVar for MedGen (Select 905199) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242255	NM_014822.4(SEC24D):c.958C>T (p.Pro320Ser)	SEC24D (P320S +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GLikely pathogenic
Select item 2807323	NM_014822.4(SEC24D):c.2093-14T>C	SEC24D	Single nucleotide variant (intron variant)	Cole-Carpenter syndrome 2 +1 more	GLikely benign
Select item 2664324	NM_014822.4(SEC24D):c.1724G>C (p.Gly575Ala)	SEC24D (G575A +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GLikely pathogenic
Select item 2664317	NM_014822.4(SEC24D):c.1055T>A (p.Leu352Ter)	SEC24D (L352* +1 more)	Single nucleotide variant (nonsense)	Cole-Carpenter syndrome 2	GLikely pathogenic
Select item 2435799	NM_014822.4(SEC24D):c.719G>A (p.Gly240Glu)	SEC24D (G240E +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GUncertain significance
Select item 2435798	NM_014822.4(SEC24D):c.1261T>C (p.Ser421Pro)	SEC24D (S421P +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GUncertain significance
Select item 1315221	NM_014822.4(SEC24D):c.1790A>T (p.Asp597Val)	SEC24D (D597V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1303509	NM_014822.4(SEC24D):c.1422-9dup	SEC24D	Duplication (intron variant)	Cole-Carpenter syndrome 2 +1 more	GBenign
Select item 1283265	NM_014822.4(SEC24D):c.2959-15dup	SEC24D	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1274573	NM_014822.4(SEC24D):c.913+49C>T	SEC24D	Single nucleotide variant (intron variant)	Cole-Carpenter syndrome 2 +1 more	GBenign
Select item 1242512	NM_014822.4(SEC24D):c.673+8G>A	SEC24D	Single nucleotide variant (intron variant)	Cole-Carpenter syndrome 2 +1 more	GBenign
Select item 1215219	NM_014822.4(SEC24D):c.2959-16G>T	SEC24D	Single nucleotide variant (intron variant)	Cole-Carpenter syndrome 2 +1 more	GBenign/Likely benign
Select item 1080663	NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met)	SEC24D (T894M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1032642	NM_014822.4(SEC24D):c.1614-10T>A	SEC24D	Single nucleotide variant (intron variant)	Cole-Carpenter syndrome 2	GUncertain significance
Select item 802085	NM_014822.4(SEC24D):c.483T>G (p.Pro161=)	SEC24D	Single nucleotide variant (synonymous variant)	Cole-Carpenter syndrome 2 +1 more	GBenign
Select item 787174	NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe)	SEC24D (L526F +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2 +1 more	GBenign/Likely benign
Select item 773159	NM_014822.4(SEC24D):c.125T>C (p.Met42Thr)	SEC24D (M42T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 771145	NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly)	SEC24D (A218G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 733430	NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr)	SEC24D (N713T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 713096	NM_014822.4(SEC24D):c.2536A>G (p.Met846Val)	SEC24D (M846V +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2 +1 more	GBenign/Likely benign
Select item 638184	NM_014822.4(SEC24D):c.1450C>T (p.Arg484Ter)	SEC24D (R484* +1 more)	Single nucleotide variant (nonsense)	Cole-Carpenter syndrome 2	GPathogenic
Select item 638183	NM_014822.4(SEC24D):c.875C>T (p.Pro292Leu)	SEC24D (P292L +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GPathogenic
Select item 638182	NM_014822.4(SEC24D):c.938G>A (p.Arg313His)	SEC24D (R313H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638181	NM_014822.4(SEC24D):c.2842T>C (p.Ser948Pro)	SEC24D (S948P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638180	NM_014822.4(SEC24D):c.2723G>A (p.Cys908Tyr)	SEC24D (C908Y +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GPathogenic
Select item 638179	NM_014822.4(SEC24D):c.2496G>T (p.Gln832His)	SEC24D (Q832H +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GPathogenic
Select item 638178	NM_014822.4(SEC24D):c.113dup (p.Thr39fs)	SEC24D (T39fs)	Duplication (frameshift variant)	Cole-Carpenter syndrome 2	GPathogenic
Select item 445346	NM_014822.4(SEC24D):c.1042-6C>G	SEC24D	Single nucleotide variant (intron variant)	SEC24D-related disorder +2 more	GBenign/Likely benign
Select item 189341	NM_014822.4(SEC24D):c.2933A>C (p.Gln978Pro)	SEC24D (Q978P +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GPathogenic
Select item 189340	NM_014822.4(SEC24D):c.613C>T (p.Gln205Ter)	SEC24D (Q205*)	Single nucleotide variant (nonsense)	Cole-Carpenter syndrome 2	GPathogenic
Select item 189339	NM_014822.4(SEC24D):c.3044C>T (p.Ser1015Phe)	SEC24D (S1015F +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 31