ClinVar for MedGen (Select 90986) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234046	NM_000515.5(GH1):c.47_55del (p.Leu16_Leu18del)	GH-LCR, GH1	Deletion (inframe_deletion)	Ateleiotic dwarfism	GUncertain significance
Select item 2431647	NC_000017.11:g.(63914995_63921260)del	GH1	Deletion	Ateleiotic dwarfism	GPathogenic
Select item 1723212	NM_000515.5(GH1):c.11-8C>T	CSHL1, GH1 +1 more	Single nucleotide variant (intron variant)	Ateleiotic dwarfism +1 more	GConflicting classifications of pathogenicity
Select item 1635025	NM_000515.5(GH1):c.456+19G>T	GH-LCR, GH1	Single nucleotide variant (intron variant)	Ateleiotic dwarfism +4 more	GBenign/Likely benign
Select item 1033063	NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu)	GH-LCR, GH1 (P63L)	Indel (missense variant +1 more)	Ateleiotic dwarfism	GUncertain significance
Select item 1030836	NM_000515.5(GH1):c.588G>A (p.Met196Ile)	GH-LCR, GH1 (M156I +2 more)	Single nucleotide variant (missense variant)	Ateleiotic dwarfism	GUncertain significance
Select item 982612	NM_000515.5(GH1):c.502A>T (p.Thr168Ser)	GH-LCR, GH1 (T128S +2 more)	Single nucleotide variant (missense variant)	Ateleiotic dwarfism +1 more	GUncertain significance
Select item 431860	NM_000515.5(GH1):c.217A>G (p.Asn73Asp)	GH-LCR, GH1 (N73D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 143932	NM_001080449.3(DNA2):c.3114+6del	DNA2	Deletion (intron variant)	Ateleiotic dwarfism +1 more	GPathogenic/Likely pathogenic
Select item 127250	NM_014171.6(CRIPT):c.141del (p.Phe47fs)	CRIPT (F47fs)	Deletion (frameshift variant)	Ateleiotic dwarfism +1 more	GPathogenic
Select item 127249	NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs)	CRIPT (A45fs)	Insertion (frameshift variant)	Rothmund-Thomson syndrome, type 3 +1 more	GPathogenic
Select item 127246	NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)	XRCC4 (W43R)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GPathogenic/Likely pathogenic
Select item 127241	NM_000059.4(BRCA2):c.9152del (p.Pro3051fs)	BRCA2 (P3051fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37062	NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)	POC1A (R81* +1 more)	Single nucleotide variant (nonsense)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome +1 more	GPathogenic
Select item 15970	NM_000515.5(GH1):c.291+1G>A	GH-LCR, GH1	Single nucleotide variant (intron variant +1 more)	Autosomal dominant isolated somatotropin deficiency +5 more	GPathogenic
Select item 15966	NM_000515.5(GH1):c.456+1G>C	GH-LCR, GH1	Single nucleotide variant (splice donor variant)	Ateleiotic dwarfism	GUncertain significance
Select item 15965	NM_000515.5(GH1):c.52del (p.Leu18fs)	GH-LCR, GH1 (L18fs)	Deletion (frameshift variant)	Ateleiotic dwarfism	GPathogenic
Select item 15964	GH1, 6.7-KB DEL	GH1	Deletion	Ateleiotic dwarfism	GPathogenic
Select item 15963	NM_000515.5(GH1):c.59G>A (p.Trp20Ter)	GH-LCR, GH1 (W20*)	Single nucleotide variant (nonsense)	Ateleiotic dwarfism	GPathogenic
Select item 15962	NM_000515.5(GH1):c.245_246del (p.Glu82fs)	GH-LCR, GH1 (E67fs +1 more)	Microsatellite (frameshift variant +1 more)	Ateleiotic dwarfism	GPathogenic

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Items: 23