ClinVar for MedGen (Select 108279) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1330178	GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1	FBXO25, USP17L4 +22 more	Copy number loss	Single transverse palmar crease +6 more	GPathogenic
Select item 598973	NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	WFS1 (Q667*)	Single nucleotide variant (nonsense)	Feeding difficulties +20 more	GPathogenic/Likely pathogenic
Select item 598972	NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)	KIF1A (H917Y +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +22 more	GUncertain significance
Select item 598971	NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	CHN1 (A223T +3 more)	Single nucleotide variant (missense variant +1 more)	Feeding difficulties +19 more	GLikely pathogenic
Select item 598953	NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)	QARS1 (Y477C +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +12 more	GConflicting classifications of pathogenicity
Select item 598952	NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	QARS1 (R378C +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +14 more	GConflicting classifications of pathogenicity
Select item 374163	NM_152564.5(VPS13B):c.4545del (p.Ser1516fs)	VPS13B (S1516fs +1 more)	Deletion (frameshift variant)	Small hand +9 more	GPathogenic
Select item 56635	NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)	VPS13B (Q3772* +1 more)	Single nucleotide variant (nonsense)	Short stature +10 more	GPathogenic