ClinVar for MedGen (Select 396291) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3585054	NM_000523.4(HOXD13):c.1007C>G (p.Ser336Cys)	HOXD13 (S336C)	Single nucleotide variant (missense variant)	Syndactyly type 5 +4 more	GUncertain significance
Select item 3338640	NM_000316.3(PTH1R):c.1405G>A (p.Glu469Lys)	PTH1R (E469K)	Single nucleotide variant (missense variant)	Brachydactyly type E1	GLikely pathogenic
Select item 1392506	NM_000523.4(HOXD13):c.170C>T (p.Ala57Val)	HOXD13 (A57V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1350734	NM_000523.4(HOXD13):c.202G>C (p.Ala68Pro)	HOXD13 (A68P)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1323061	NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup)	HOXD13	Duplication (inframe_insertion)	Inborn genetic diseases +5 more	GPathogenic
Select item 689765	NM_000523.4(HOXD13):c.744_747del (p.Gln248fs)	HOXD13 (Q248fs)	Deletion (frameshift variant)	Brachydactyly type E1 +3 more	GPathogenic
Select item 493303	NM_000523.4(HOXD13):c.296C>G (p.Pro99Arg)	HOXD13 (P99R)	Single nucleotide variant (missense variant)	Brachydactyly type E1 +5 more	GUncertain significance
Select item 374019	NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	HOXD13 (R274*)	Single nucleotide variant (nonsense)	Oligospermia +13 more	GPathogenic/Likely pathogenic
Select item 242978	GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3	GMDS, DUSP22 +16 more	Copy number gain	Brachydactyly type E1	GPathogenic
Select item 193107	NM_000523.4(HOXD13):c.204G>A (p.Ala68=)	HOXD13	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 14872	NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp)	HOXD13 (R306W)	Single nucleotide variant (missense variant)	Brachydactyly type E1 +1 more	GPathogenic/Likely pathogenic