51611[geneid] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 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 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 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 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 3085488	NM_015958.3(DPH5):c.540G>T (p.Lys180Asn)	DPH5, SLC30A7 (K180N)	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 2225970	NM_015958.3(DPH5):c.310C>A (p.Pro104Thr)	DPH5 (P104T)	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 3085491	NM_015958.3(DPH5):c.97G>T (p.Ala33Ser)	DPH5, LOC126805809 (A33S)	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 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 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	GUncertain significance
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	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +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

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Items: 30