ClinVar for MedGen (Select 1648330) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258090	NM_032271.3(TRAF7):c.1746+2dup	TRAF7	Duplication (splice donor variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 3254922	NM_032271.3(TRAF7):c.1999G>C (p.Val667Leu)	TRAF7 (V667L)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 3242003	NM_032271.3(TRAF7):c.178C>T (p.Pro60Ser)	TRAF7 (P60S)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 3068405	NM_032271.3(TRAF7):c.943_944delinsGG (p.Leu315Gly)	TRAF7 (L315G)	Indel (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 3065374	NM_032271.3(TRAF7):c.1331C>T (p.Ala444Val)	TRAF7 (A444V)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2663925	NM_032271.3(TRAF7):c.1958G>T (p.Arg653Leu)	TRAF7 (R653L)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GPathogenic
Select item 2585281	NM_032271.3(TRAF7):c.487G>A (p.Val163Met)	TRAF7 (V163M)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2437225	NM_032271.3(TRAF7):c.1787C>T (p.Thr596Met)	TRAF7 (T596M)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2437224	NM_032271.3(TRAF7):c.584C>T (p.Ala195Val)	TRAF7 (A195V)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2437223	NM_032271.3(TRAF7):c.1660G>A (p.Val554Ile)	TRAF7 (V554I)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2431621	NM_032271.3(TRAF7):c.1567G>T (p.Val523Leu)	TRAF7 (V523L)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 1707473	NM_032271.3(TRAF7):c.1112G>A (p.Arg371Gln)	TRAF7 (R371Q)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GLikely pathogenic
Select item 1700055	NM_032271.3(TRAF7):c.1919T>C (p.Leu640Pro)	TRAF7 (L640P)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay +1 more	GConflicting classifications of pathogenicity
Select item 1699445	NM_032271.3(TRAF7):c.1135+7A>G	TRAF7	Single nucleotide variant (intron variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 1698784	NM_032271.3(TRAF7):c.1783C>G (p.Leu595Val)	TRAF7 (L595V)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GLikely pathogenic
Select item 1679307	NM_032271.3(TRAF7):c.1798G>A (p.Gly600Ser)	TRAF7 (G600S)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GConflicting classifications of pathogenicity
Select item 1342342	NM_032271.3(TRAF7):c.1014C>T (p.Asp338=)	TRAF7	Single nucleotide variant (synonymous variant)	Cardiac, facial, and digital anomalies with developmental delay +1 more	GConflicting classifications of pathogenicity
Select item 1203798	NM_032271.3(TRAF7):c.1673C>T (p.Ser558Phe)	TRAF7 (S558F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1030022	NM_032271.3(TRAF7):c.1347-1G>C	TRAF7	Single nucleotide variant (splice acceptor variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 1030021	NM_032271.3(TRAF7):c.1063C>T (p.Arg355Trp)	TRAF7 (R355W)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 987902	NM_032271.3(TRAF7):c.1886G>A (p.Ser629Asn)	TRAF7 (S629N)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GLikely pathogenic
Select item 973071	NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp)	TRAF7 (R524W)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay +1 more	GPathogenic/Likely pathogenic
Select item 828026	NM_032271.3(TRAF7):c.1510G>C (p.Asp504His)	TRAF7 (D504H)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 587688	NM_032271.3(TRAF7):c.1111C>G (p.Arg371Gly)	TRAF7 (R371G)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GPathogenic
Select item 587687	NM_032271.3(TRAF7):c.1036A>G (p.Lys346Glu)	TRAF7 (K346E)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GPathogenic
Select item 587686	NM_032271.3(TRAF7):c.1801A>G (p.Thr601Ala)	TRAF7 (T601A)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GPathogenic
Select item 587685	NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)	TRAF7 (R655Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity

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Items: 27