ClinVar for Gene (Select 51611) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 30

	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 3085486	NM_015958.3(DPH5):c.299A>T (p.Lys100Met)	DPH5 (K100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085485	NM_015958.3(DPH5):c.180A>T (p.Glu60Asp)	DPH5 (E60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2693364	NM_015958.3(DPH5):c.172A>G (p.Arg58Gly)	DPH5 (R58G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685532	GRCh37/hg19 1p21.2(chr1:101386745-101479579)x1	SLC30A7, DPH5	Copy number loss	not provided	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	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 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	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 2225970	NM_015958.3(DPH5):c.310C>A (p.Pro104Thr)	DPH5 (P104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708534	NM_015958.3(DPH5):c.329A>G (p.Asn110Ser)	DPH5 (N110S)	Single nucleotide variant (missense variant)	DPH5-related diphthamide-deficiency syndrome +1 more	GPathogenic
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
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	not provided	GUncertain significance
Select item 992749	Single allele	AMY1B, AMY1C +10 more	Deletion	Seizure	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 30