ClinVar for MedGen (Select 1784655) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570671	NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)	CSNK1E, TPTEP2-CSNK1E (R178C)	Single nucleotide variant (missense variant)	Seizure +11 more	GUncertain significance
Select item 1064670	NM_017619.4(RNPC3):c.624+1G>T	RNPC3	Single nucleotide variant (splice donor variant)	Decreased response to growth hormone stimulation test	GPathogenic
Select item 1064669	NM_017619.4(RNPC3):c.613C>T (p.Arg205Ter)	RNPC3 (R205*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 892519	NM_000515.5(GH1):c.328C>G (p.Gln110Glu)	GH-LCR, GH1 (Q110E +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 892518	NM_000515.5(GH1):c.350A>G (p.Gln117Arg)	GH-LCR, GH1 (Q102R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 892517	NM_000515.5(GH1):c.352T>C (p.Phe118Leu)	GH-LCR, GH1 (F118L +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 892516	NM_000515.5(GH1):c.363T>C (p.Ser121=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test +1 more	GConflicting classifications of pathogenicity
Select item 891386	NM_000515.5(GH1):c.-47A>G	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 891385	NM_000515.5(GH1):c.-40C>T	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 891384	NM_000515.5(GH1):c.-38A>C	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 891326	NM_000515.5(GH1):c.457A>G (p.Arg153Gly)	GH-LCR, GH1 (R113G +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 891325	NM_000515.5(GH1):c.468T>C (p.Asp156=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test +1 more	GConflicting classifications of pathogenicity
Select item 891324	NM_000515.5(GH1):c.470G>A (p.Gly157Asp)	GH-LCR, GH1 (G142D +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 891323	NM_000515.5(GH1):c.535G>C (p.Asp179His)	GH-LCR, GH1 (D139H +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test +1 more	GUncertain significance
Select item 891322	NM_000515.5(GH1):c.559G>A (p.Gly187Arg)	GH-LCR, GH1 (G172R +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 889838	NM_000515.5(GH1):c.21G>A (p.Thr7=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 889837	NM_000515.5(GH1):c.55C>T (p.Pro19Ser)	GH-LCR, GH1 (P19S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889836	NM_000515.5(GH1):c.84A>G (p.Pro28=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 889835	NM_000515.5(GH1):c.115G>A (p.Ala39Thr)	GH-LCR, GH1 (A39T)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 889834	NM_000515.5(GH1):c.124C>T (p.Arg42Cys)	GH-LCR, GH1 (R42C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 889781	NM_000515.5(GH1):c.561G>A (p.Gly187=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 889157	NM_000515.5(GH1):c.164A>G (p.Gln55Arg)	GH-LCR, GH1 (Q55R)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 889156	NM_000515.5(GH1):c.171+6C>T	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889155	NM_000515.5(GH1):c.246G>C (p.Glu82Asp)	GH-LCR, GH1 (E67D +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated growth hormone deficiency type IB +1 more	GUncertain significance
Select item 889154	NM_000515.5(GH1):c.291+14T>G	GH-LCR, GH1	Single nucleotide variant (intron variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 873019	NM_173685.4(NSMCE2):c.465T>G (p.Asp155Glu)	NSMCE2 (D155E)	Single nucleotide variant (missense variant +1 more)	Microcephaly +4 more	GUncertain significance
Select item 703573	NM_000515.5(GH1):c.546A>G (p.Leu182=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test +1 more	GConflicting classifications of pathogenicity
Select item 701921	NM_000515.5(GH1):c.447G>A (p.Thr149=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test +1 more	GBenign/Likely benign
Select item 598615	NM_000515.5(GH1):c.597C>G (p.Val199=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 595591	NM_000515.5(GH1):c.15C>T (p.Ser5=)	GH1, GH-LCR	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test +1 more	GConflicting classifications of pathogenicity
Select item 587367	NM_017619.4(RNPC3):c.1420C>A (p.Pro474Thr)	RNPC3 (P474T)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5 +1 more	GPathogenic
Select item 559395	Single allele	CEP85L, PLN	Duplication	Ebstein anomaly +2 more	GUncertain significance
Select item 324462	NM_000515.5(GH1):c.-60G>C	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 324461	NM_000515.5(GH1):c.-27G>T	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 324460	NM_000515.5(GH1):c.-4T>G	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 324459	NM_000515.5(GH1):c.16C>A (p.Arg6=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 324458	NM_000515.5(GH1):c.66A>G (p.Gln22=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 324457	NM_000515.5(GH1):c.127G>A (p.Ala43Thr)	GH-LCR, GH1 (A43T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 324456	NM_000515.5(GH1):c.134G>A (p.Arg45His)	GH-LCR, GH1 (R45H)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test +1 more	GUncertain significance
Select item 324455	NM_000515.5(GH1):c.291+8G>T	GH-LCR, GH1	Single nucleotide variant (intron variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 324454	NM_000515.5(GH1):c.292-15G>A	GH1, GH-LCR	Single nucleotide variant (intron variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 324452	NM_000515.5(GH1):c.456+12G>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	Decreased response to growth hormone stimulation test +1 more	GConflicting classifications of pathogenicity
Select item 324451	NM_000515.5(GH1):c.478C>T (p.Arg160Trp)	GH-LCR, GH1 (R160W +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test +1 more	GUncertain significance
Select item 324450	NM_000515.5(GH1):c.563T>C (p.Leu188Pro)	GH-LCR, GH1 (L188P +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 289503	NM_000515.5(GH1):c.7A>G (p.Thr3Ala)	GH-LCR, GH1 (T3A)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 284727	NM_000515.5(GH1):c.116C>T (p.Ala39Val)	GH-LCR, GH1 (A39V)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 279598	NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	ADNP (R730*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 267836	46;XY;t(1;6)(q23;q13)dn		Translocation	Gastrostomy tube feeding in infancy +12 more	GUncertain significance
Select item 197151	NM_000515.5(GH1):c.406G>A (p.Val136Ile)	GH-LCR, GH1 (V136I +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test +2 more	GConflicting classifications of pathogenicity
Select item 197150	NM_000515.5(GH1):c.387C>T (p.Tyr129=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test +1 more	GConflicting classifications of pathogenicity
Select item 195080	NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)	GH-LCR, GH1 (F51Y)	Single nucleotide variant (missense variant)	Autosomal dominant isolated somatotropin deficiency +3 more	GBenign/Likely benign
Select item 195079	NM_000515.5(GH1):c.150C>A (p.Ala50=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity

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Items: 52