19306[HGNC] - ClinVar

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Items: 62

	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 2719996	NM_133496.5(SLC30A7):c.7C>A (p.Pro3Thr)	LOC129931031, SLC30A7 (P3T)	Single nucleotide variant (missense 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 2349873	NM_133496.5(SLC30A7):c.38C>T (p.Pro13Leu)	LOC129931031, SLC30A7 (P13L)	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 2523813	NM_133496.5(SLC30A7):c.71G>A (p.Gly24Asp)	LOC129931031, SLC30A7 (G24D)	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 2544705	NM_133496.5(SLC30A7):c.82T>G (p.Ser28Ala)	LOC129931032, SLC30A7 (S28A)	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 3016915	NM_133496.5(SLC30A7):c.172T>A (p.Trp58Arg)	SLC30A7 (W58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319522	NM_133496.5(SLC30A7):c.278A>G (p.Asn93Ser)	SLC30A7 (N93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533780	NM_133496.5(SLC30A7):c.356C>A (p.Ala119Asp)	SLC30A7 (A119D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332451	NM_133496.5(SLC30A7):c.409C>T (p.His137Tyr)	SLC30A7 (H137Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392491	NM_133496.5(SLC30A7):c.460A>G (p.Ile154Val)	SLC30A7 (I154V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467730	NM_133496.5(SLC30A7):c.461T>C (p.Ile154Thr)	SLC30A7 (I154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375382	NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser)	SLC30A7 (H164S)	Indel (missense variant)	Joubert syndrome 1	GPathogenic
Select item 1629882	NM_133496.5(SLC30A7):c.506G>A (p.Gly169Asp)	SLC30A7 (G169D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3164261	NM_133496.5(SLC30A7):c.515A>G (p.His172Arg)	SLC30A7 (H172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314628	NM_133496.5(SLC30A7):c.547C>G (p.Leu183Val)	SLC30A7 (L183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1465500	NM_133496.5(SLC30A7):c.556G>A (p.Ala186Thr)	SLC30A7 (A186T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3164262	NM_133496.5(SLC30A7):c.565C>G (p.His189Asp)	SLC30A7 (H189D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1523769	NM_133496.5(SLC30A7):c.566A>G (p.His189Arg)	SLC30A7 (H189R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2178805	NM_133496.5(SLC30A7):c.647A>G (p.His216Arg)	SLC30A7 (H216R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1946911	NM_133496.5(SLC30A7):c.653A>G (p.His218Arg)	SLC30A7 (H218R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2378627	NM_133496.5(SLC30A7):c.662C>T (p.Pro221Leu)	SLC30A7 (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1624871	NM_133496.5(SLC30A7):c.663G>A (p.Pro221=)	SLC30A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264395	NM_133496.5(SLC30A7):c.696G>C (p.Gln232His)	SLC30A7 (Q232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1512283	NM_133496.5(SLC30A7):c.721A>G (p.Ile241Val)	SLC30A7 (I241V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662156	NM_133496.5(SLC30A7):c.765C>T (p.Ala255=)	SLC30A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081554	NM_133496.5(SLC30A7):c.785G>A (p.Gly262Asp)	SLC30A7 (G262D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3319524	NM_133496.5(SLC30A7):c.791T>A (p.Met264Lys)	SLC30A7 (M264K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2893057	NM_133496.5(SLC30A7):c.826A>G (p.Ile276Val)	SLC30A7 (I276V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711193	NM_133496.5(SLC30A7):c.842+15T>C	SLC30A7	Single nucleotide variant (intron variant)	Testicular atrophy	GLikely pathogenic
Select item 1944235	NM_133496.5(SLC30A7):c.910A>G (p.Ser304Gly)	SLC30A7 (S304G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483628	NM_133496.5(SLC30A7):c.912T>C (p.Ser304=)	SLC30A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3164263	NM_133496.5(SLC30A7):c.923G>A (p.Cys308Tyr)	SLC30A7 (C308Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164264	NM_133496.5(SLC30A7):c.929A>G (p.Gln310Arg)	SLC30A7 (Q310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459758	NM_133496.5(SLC30A7):c.1066C>A (p.His356Asn)	SLC30A7 (H356N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491236	NM_133496.5(SLC30A7):c.1084G>A (p.Ala362Thr)	SLC30A7 (A362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319523	NM_133496.5(SLC30A7):c.1121C>A (p.Ala374Glu)	SLC30A7 (A374E)	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 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 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: 62