ClinVar for MedGen (Select 1648330) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome +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)	not provided +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 24