ClinVar for MedGen (Select 1778926) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3572969	NM_012262.4(HS2ST1):c.95_100del (p.Gln32_Lys33del)	HS2ST1	Deletion	Neurofacioskeletal syndrome with or without renal agenesis	GLikely pathogenic
Select item 3062229	NM_012262.4(HS2ST1):c.251C>T (p.Thr84Met)	HS2ST1 (T84M)	Single nucleotide variant (missense variant)	Neurofacioskeletal syndrome with or without renal agenesis	GUncertain significance
Select item 2585672	NM_012262.4(HS2ST1):c.364-19A>G	HS2ST1	Single nucleotide variant (intron variant)	Neurofacioskeletal syndrome with or without renal agenesis	GBenign
Select item 997414	NM_012262.4(HS2ST1):c.567A>C (p.Arg189Ser)	HS2ST1 (R189S)	Single nucleotide variant (missense variant)	Neurofacioskeletal syndrome with or without renal agenesis	GPathogenic
Select item 997413	NM_012262.4(HS2ST1):c.59_62delinsGAA (p.Phe20_Ala21delinsTer)	HS2ST1	Indel (nonsense)	Neurofacioskeletal syndrome with or without renal agenesis	GPathogenic
Select item 997412	NM_012262.4(HS2ST1):c.493G>T (p.Asp165Tyr)	HS2ST1 (D165Y)	Single nucleotide variant (missense variant)	Neurofacioskeletal syndrome with or without renal agenesis	GPathogenic
Select item 707157	NM_012262.4(HS2ST1):c.364-8C>T	HS2ST1	Single nucleotide variant (intron variant)	Neurofacioskeletal syndrome with or without renal agenesis +1 more	GBenign

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