ClinVar for MedGen (Select 934712) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377694	NM_031307.4(PUS3):c.1225C>T (p.Arg409Cys)	HYLS1, PUS3 (R201C +1 more)	Single nucleotide variant (missense variant +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GUncertain significance
Select item 2682259	NM_031307.4(PUS3):c.438_442del (p.Asn146fs)	HYLS1, PUS3 (N146fs)	Deletion (frameshift variant +2 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GPathogenic
Select item 2063628	NM_031307.4(PUS3):c.476G>A (p.Arg159His)	HYLS1, PUS3 (R159H)	Single nucleotide variant (5 prime UTR variant +2 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome +1 more	GUncertain significance
Select item 1802568	NM_031307.4(PUS3):c.[497G>A;896T>G]	PUS3, HYLS1 (R166Q +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GUncertain significance
Select item 1447306	NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys)	HYLS1, PUS3 (Y71C)	Single nucleotide variant (missense variant +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome +1 more	GPathogenic
Select item 1324973	NM_031307.4(PUS3):c.17_18del (p.Thr6fs)	HYLS1, PUS3 (T6fs)	Microsatellite (frameshift variant +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GLikely pathogenic
Select item 1168503	NM_031307.4(PUS3):c.7T>G (p.Tyr3Asp)	HYLS1, PUS3 (Y3D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1168502	NM_031307.4(PUS3):c.136G>T (p.Ala46Ser)	HYLS1, PUS3 (A46S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1168501	NM_031307.4(PUS3):c.1380G>C (p.Glu460Asp)	HYLS1, PUS3 (E252D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 931751	NM_031307.4(PUS3):c.366_367del (p.Ala123fs)	HYLS1, PUS3 (A123fs)	Deletion (frameshift variant +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GPathogenic/Likely pathogenic
Select item 931750	NM_031307.4(PUS3):c.1082T>A (p.Met361Lys)	PUS3, HYLS1 (M153K +1 more)	Single nucleotide variant (missense variant +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GUncertain significance
Select item 930377	NM_031307.4(PUS3):c.1048C>T (p.Gln350Ter)	HYLS1, PUS3 (Q350* +1 more)	Single nucleotide variant (nonsense +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GLikely pathogenic
Select item 692029	NM_031307.4(PUS3):c.1A>G (p.Met1Val)	HYLS1, PUS3 (M1V)	Single nucleotide variant (missense variant +2 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome +1 more	GPathogenic/Likely pathogenic
Select item 632594	NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)	PUS3, HYLS1 (R166Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome +1 more	GUncertain significance
Select item 632593	NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)	HYLS1, PUS3 (R193Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 619235	NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs)	PUS3, HYLS1 (S394fs +1 more)	Microsatellite (frameshift variant +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GLikely pathogenic
Select item 253169	NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)	HYLS1, PUS3 (R435* +1 more)	Single nucleotide variant (nonsense +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GPathogenic