JPT1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 3112520	NM_016185.4(JPT1):c.*91G>C	JPT1 (L179F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112519	NM_016185.4(JPT1):c.*3C>T	JPT1 (S150F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112518	NM_016185.4(JPT1):c.407C>T (p.Ala136Val)	JPT1 (A136V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546485	NM_016185.4(JPT1):c.345C>T (p.Ser115=)	JPT1 (A109V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559084	NM_016185.4(JPT1):c.322G>T (p.Val108Leu)	JPT1 (C109F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112517	NM_016185.4(JPT1):c.292C>A (p.Leu98Met)	JPT1, LOC126862639 (L52M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112516	NM_016185.4(JPT1):c.277G>A (p.Gly93Arg)	JPT1, LOC126862639 (G47R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112515	NM_016185.4(JPT1):c.269C>G (p.Ala90Gly)	JPT1, LOC126862639 (A44G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287257	NM_016185.4(JPT1):c.263C>T (p.Ser88Phe)	JPT1, LOC126862639 (S42F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112513	NM_016185.4(JPT1):c.211A>G (p.Ser71Gly)	JPT1, LOC126862639 (S25G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458595	NM_016185.4(JPT1):c.188C>T (p.Ala63Val)	JPT1, LOC126862639 (A63V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537616	NM_016185.4(JPT1):c.140T>C (p.Met47Thr)	JPT1, LOC126862639 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525617	NM_016185.4(JPT1):c.65G>A (p.Arg22Gln)	JPT1, LOC126862639 (R22Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 1526586	GRCh37/hg19 17q25.1(chr17:73049227-73533226)	ARMC7, CASKIN2 +14 more	Copy number loss	not specified	GUncertain significance
Select item 1340452	GRCh37/hg19 17q25.1(chr17:73045938-73310951)x3	ARMC7, GGA3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815951	GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3	ARMC7, ATP5PD +15 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564472	GRCh37/hg19 17q25.1(chr17:73057756-73429731)x3	ARMC7, GGA3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564471	GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3	ARMC7, ATP5PD +13 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 493579	GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	ARMC7, ATP5PD +20 more	Copy number gain	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 32