Related gene-specific medical variations for Gene (Select 148867) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2967387	NM_133496.5(SLC30A7):c.42C>G (p.Pro14=)	LOC129931031, SLC30A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719996	NM_133496.5(SLC30A7):c.7C>A (p.Pro3Thr)	LOC129931031, SLC30A7 (P3T)	Single nucleotide variant (missense variant)	not provided	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 2544705	NM_133496.5(SLC30A7):c.82T>G (p.Ser28Ala)	LOC129931032, SLC30A7 (S28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523813	NM_133496.5(SLC30A7):c.71G>A (p.Gly24Asp)	LOC129931031, SLC30A7 (G24D)	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 2349873	NM_133496.5(SLC30A7):c.38C>T (p.Pro13Leu)	LOC129931031, SLC30A7 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307258	NM_133496.5(SLC30A7):c.89T>C (p.Leu30Pro)	LOC129931032, SLC30A7 (L30P)	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 1960141	NM_133496.5(SLC30A7):c.80+6G>C	LOC129931031, SLC30A7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1711192	NM_133496.5(SLC30A7):c.21dup (p.Asp8fs)	LOC129931031, SLC30A7 (D8fs)	Duplication (frameshift variant)	Decreased testicular size	GLikely pathogenic
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