Related gene-specific medical variations for Gene (Select 51611) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3085491	NM_015958.3(DPH5):c.97G>T (p.Ala33Ser)	DPH5, LOC126805809 (A33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085490	NM_015958.3(DPH5):c.817C>A (p.Pro273Thr)	DPH5, SLC30A7 (P273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085489	NM_015958.3(DPH5):c.685G>A (p.Asp229Asn)	DPH5, SLC30A7 (D229N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085488	NM_015958.3(DPH5):c.540G>T (p.Lys180Asn)	DPH5, SLC30A7 (K180N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085487	NM_015958.3(DPH5):c.40G>A (p.Asp14Asn)	DPH5, LOC126805809 (D14N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614423	NM_015958.3(DPH5):c.769G>A (p.Gly257Ser)	DPH5, SLC30A7 (G257S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568916	NM_015958.3(DPH5):c.797T>C (p.Met266Thr)	DPH5, SLC30A7 (M265T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395574	NM_015958.3(DPH5):c.791T>G (p.Met264Arg)	DPH5, SLC30A7 (M263R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380434	NM_015958.3(DPH5):c.706A>C (p.Thr236Pro)	DPH5, SLC30A7 (T236P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299016	NM_015958.3(DPH5):c.686A>C (p.Asp229Ala)	DPH5, SLC30A7 (D229A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708533	NM_015958.3(DPH5):c.619C>T (p.Arg207Ter)	DPH5, SLC30A7	Single nucleotide variant (nonsense)	DPH5-related diphthamide-deficiency syndrome +1 more	GPathogenic
Select item 1708532	NM_015958.3(DPH5):c.779A>G (p.His260Arg)	DPH5, SLC30A7 (H260R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	GPathogenic/Likely pathogenic