ClinVar for MedGen (Select 19310) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334403	NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu)	ATP2B1 (V793L +2 more)	Single nucleotide variant (missense variant)	Hypocalcemia +4 more	GLikely pathogenic
Select item 1334402	NM_001366521.1(ATP2B1):c.3060+2T>G	ATP2B1	Single nucleotide variant (splice donor variant)	Hypocalcemia +4 more	GLikely pathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 981739	NM_003091.4(SNRPB):c.560-1G>T	SNRPB	Single nucleotide variant (splice acceptor variant)	Isolated Pierre-Robin syndrome +1 more	GLikely pathogenic
Select item 562231	Single allele	ACADVL, ACAP1 +25 more	Duplication	Bilateral conductive hearing impairment +3 more	GLikely pathogenic
Select item 559503	GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4	SLC25A12, DLX1 +5 more	Copy number gain	Isolated Pierre-Robin syndrome +3 more	GUncertain significance
Select item 268156	NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)	EBF3 (R163Q)	Single nucleotide variant (missense variant)	Global developmental delay +8 more	GPathogenic
Select item 268030	46;XY;t(10;17)(p13;q23)dn		Translocation	Isolated Pierre-Robin syndrome +13 more	GUncertain significance
Select item 267909	46;XX;t(6;7;17)(p23;p22;q25)pat		Translocation	Isolated Pierre-Robin syndrome	GUncertain significance
Select item 267878	46;XX;t(1;13)(p36.1;q12.1)dn		Translocation	Isolated Pierre-Robin syndrome +1 more	GUncertain significance
Select item 267851	46;XX;ins(5;6)(p13;p24p25)dn		Translocation	Isolated Pierre-Robin syndrome +14 more	GPathogenic
Select item 267836	46;XY;t(1;6)(q23;q13)dn		Translocation	Gastrostomy tube feeding in infancy +12 more	GUncertain significance
Select item 252670	NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys)	TNNT3 (R223C +8 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 218934	t(12;19)(q24.21;q12)	MED13L	Translocation	Hypertelorism +13 more	GPathogenic