PRSS16[gene] - ClinVar

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

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 3219817	NM_005865.4(PRSS16):c.7G>A (p.Val3Ile)	PRSS16 (V3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219812	NM_005865.4(PRSS16):c.17C>T (p.Ala6Val)	PRSS16 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219816	NM_005865.4(PRSS16):c.71C>T (p.Ala24Val)	PRSS16 (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382375	NM_005865.4(PRSS16):c.86G>A (p.Arg29His)	PRSS16 (R29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293264	NM_005865.4(PRSS16):c.269G>C (p.Gly90Ala)	PRSS16 (G90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310669	NM_005865.4(PRSS16):c.292C>T (p.His98Tyr)	PRSS16 (H98Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219813	NM_005865.4(PRSS16):c.397T>A (p.Phe133Ile)	PRSS16 (F133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347170	NM_005865.4(PRSS16):c.413T>C (p.Ile138Thr)	PRSS16 (I138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228866	NM_005865.4(PRSS16):c.428T>C (p.Leu143Pro)	PRSS16 (L143P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320544	NM_005865.4(PRSS16):c.473C>T (p.Ala158Val)	PRSS16 (A158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327866	NM_005865.4(PRSS16):c.550G>A (p.Gly184Ser)	LOC129996095, PRSS16 (G184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219814	NM_005865.4(PRSS16):c.595C>A (p.Pro199Thr)	PRSS16 (P199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518342	NM_005865.4(PRSS16):c.638G>A (p.Arg213Gln)	PRSS16 (R213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455591	NM_005865.4(PRSS16):c.690G>A (p.Met230Ile)	LOC129996097, PRSS16 (M230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299994	NM_005865.4(PRSS16):c.704G>A (p.Gly235Asp)	LOC129996097, PRSS16 (G235D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219815	NM_005865.4(PRSS16):c.707G>T (p.Gly236Val)	PRSS16, LOC129996097 (G236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275020	NM_005865.4(PRSS16):c.718T>A (p.Cys240Ser)	PRSS16 (C240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535581	NM_005865.4(PRSS16):c.721C>G (p.Arg241Gly)	PRSS16 (R241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309214	NM_005865.4(PRSS16):c.728C>T (p.Ala243Val)	PRSS16 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349371	NM_005865.4(PRSS16):c.787G>T (p.Ala263Ser)	PRSS16 (A263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289990	NM_005865.4(PRSS16):c.800C>T (p.Thr267Met)	PRSS16 (T267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283080	NM_005865.4(PRSS16):c.914C>T (p.Pro305Leu)	PRSS16 (P305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495671	NM_005865.4(PRSS16):c.1027G>A (p.Gly343Ser)	PRSS16 (G343S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219811	NM_005865.4(PRSS16):c.1059G>T (p.Glu353Asp)	PRSS16 (E353D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280712	NM_005865.4(PRSS16):c.1112G>A (p.Arg371Gln)	PRSS16 (R371Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284012	NM_005865.4(PRSS16):c.1216C>A (p.Leu406Ile)	PRSS16 (L406I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510830	NM_005865.4(PRSS16):c.1267G>T (p.Ala423Ser)	PRSS16 (A423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334467	NM_005865.4(PRSS16):c.1339G>T (p.Asp447Tyr)	PRSS16 (D447Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485412	NM_005865.4(PRSS16):c.1369G>C (p.Ala457Pro)	PRSS16 (A457P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455552	NM_005865.4(PRSS16):c.1369G>T (p.Ala457Ser)	PRSS16 (A457S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770923	NM_005865.4(PRSS16):c.1520_1534del (p.Glu507_Lys511del)	PRSS16	Deletion (inframe_deletion)	not provided	GBenign
Select item 686587	GRCh37/hg19 6p22.1(chr6:27209501-27432468)x1	POM121L2, PRSS16 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563170	GRCh37/hg19 6p22.1(chr6:27166564-27432468)x3	ZNF184, ZNF391 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563169	GRCh37/hg19 6p22.2-22.1(chr6:26928203-27344831)x3	H2BC11, H2AC11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	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

Search results

Items: 39