"See cases"[Disease/phenotype] AND "Hadassah Hebrew University Medical - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627107	NM_014398.4(LAMP3):c.862G>A (p.Gly288Arg)	LAMP3 (G288R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2627108	NM_001202438.2(EDRF1):c.2140C>T (p.Arg714Ter)	EDRF1 (R680* +1 more)	Single nucleotide variant (nonsense +1 more)	See cases	GUncertain significance
Select item 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	Global developmental delay +5 more	GPathogenic/Likely pathogenic
Select item 1301850	NM_080704.4(TRPV1):c.993C>G (p.Asn331Lys)	TRPV1 (N331K)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2627106	NM_001033002.4(RPAIN):c.490-6T>C	RPAIN	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2627105	NM_021078.3(KAT2A):c.2032_2055del (p.Leu678_Gln685del)	KAT2A	Deletion (inframe_deletion)	See cases	GLikely pathogenic
Select item 120	NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	CBS (I278T +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +6 more	GPathogenic

ClinVar